WORLDSymposium strives to recognize important achievements in therapy for lysosomal diseases for treatments attaining regulatory approval. In recognition of achieving major milestones, WORLDSymposium reviews potential recipients for the New Treatment Award in 2024. This award honors “new treatments” that are viewed as providing value to patients with lysosomal diseases, and general acceptance as evidenced by approval by the U.S. Food and Drug Administration, European Medicines Agency, and other regulatory authorities.
The 2024 WORLDSymposium New Treatment Awards was presented to 3 outstanding new therapies:
Cipaglucosidase alfa (Pombiliti®), an enzyme replacement therapy (ERT) designed to deliver active GAA enzyme directly to the muscle cells for effective uptake, and miglustat (Opfolda®), the first and only oral enzyme stabilizer designed for late-onset Pompe disease (LOPD). This two-component therapy provided clinical data meriting approval by the European Commission (EC), the Medicines and Healthcare products Regulatory Agency (MHRA) of the United Kingdom (U.K.), and the U.S. Food and Drug Administration (FDA) as the first for adults with late-onset Pompe disease (LOPD). (Amicus Therapeutics)
Pegunigalsidase alfa-iwxj (Elfabrio®) which provided clinical data meriting approval by the European Commission (EC) and the U.S. Food and Drug Administration (FDA) as an enzyme replacement therapy (ERT) that has been shown to work safely and effectively in adults with Fabry disease. (Chiesi Global Rare Diseases)
Velmanase alfa-tycv (Lamzede®) which provided clinical data meriting approval by the U.S. Food and Drug Administration (FDA) as the first U.S. enzyme replacement therapy (ERT) approved for the treatment of non-central nervous system manifestations of alpha-mannosidosis (AM) in adult and pediatric patients. (Chiesi Global Rare Diseases)
The WORLDSymposium 2024 New Treatment Awards was presented on Thursday, February 8, 2024, at 7:45 AM PST, followed by a full day of Contemporary Forum abstract presentations.
WORLDSymposium™ 2024 Keynote Speaker
Peter Marks, MD, PhD Returns as Keynote Speaker on Wednesday, February 7, 2024
WORLDSymposium was excited to announce the return of Peter Marks, MD, PhD, to present a keynote address on Wednesday, February 7, 2024. Dr. Marks has been a featured speaker at WORLDSymposium several times in the past 4 years, emphasizing the importance of collaborations between all stakeholders on a global basis including the US FDA, and providing important updates on the FDA’s role in rare disease research.
Dr. Marks is the director of the Center for Biologics Evaluation and Research (CBER) at the U.S. Food and Drug Administration (FDA). The center is responsible for assuring the safety and effectiveness of biological products, including vaccines, allergenic products, blood and blood products, and cellular, tissue, and gene therapies. Dr. Marks and center staff are committed to facilitating the development of biological products and providing oversight throughout the product life cycle.
Dr. Marks received his graduate degree in cell and molecular biology and his medical degree at New York University. Following this, he completed an Internal Medicine residency and Hematology/Medical Oncology fellowship at Brigham and Women’s Hospital in Boston, where he subsequently joined the attending staff as a clinician-scientist and eventually served as Clinical Director of Hematology.
He then moved on to work for several years in the pharmaceutical industry on the clinical development of hematology and oncology products prior to returning to academic medicine at Yale University where he led the Adult Leukemia Service and served as Chief Clinical Officer of Smilow Cancer Hospital. He joined the FDA in 2012 as Deputy Center Director for CBER and became Center Director in 2016. Dr. Marks is board certified in internal medicine, hematology and medical oncology, and is a Fellow of the American College of Physicians.
Dr. Marks is a renowned speaker and expert in numerous areas, including the current issues facing gene therapy research not only in the United States, but also from a global perspective. In addition, in his role at the FDA, he is integrally involved in the development and approval process for COVID-19 vaccines. In 2022, he became a Member of the National Academy of Medicine, one of the highest honors in the fields of health, science and medicine.
No one wanted to miss Dr. Marks Keynote Address: Accelerating the Pace of Progress in Gene Therapy, Wednesday, February 7, 2024 at 7:30 AM PST, at the 20th Annual WORLDSymposium in San Diego, California.
Alan Finglas to Receive 2024 Patient Advocate Leader (PAL) Award
Congratulations to Alan Finglas, the recipient of the WORLDSymposium 2024 Patient Advocate Leader (PAL) Award. After reviewing numerous nominations, and considering many amazing individuals, the WORLDSymposium 2024 Awards Committee selected Alan as the recipient of the 2024 PAL Award.
Alan and his wife Michelle founded MSD Action Foundation & SavingDylan.com in March 2015 along with family and friends, just 5 months after their first born, Dylan, was diagnosed with multiple sulfatase deficiency (MSD). At that time, there was no dedicated charity pursuing research on MSD anywhere in the world. Alan is known for his sheer determination, practical mindset, fundraising abilities, strategic planning, his ability to help secure grants, and being able to discover and foster collaborations. The charity has no employees and Alan’s position is 100% voluntary with zero expenses or travel bursaries.
Alan has played a vital role in changing the previous dynamic in MSD research from simply expanding knowledge, to pursuing therapeutic approaches. Alan guided the foundation to fund 14 translational research projects and he is actively collaborating closely with several other MSD research projects. Alan was key in securing over €500K in additional funding from the Health Research Board, Ireland, in co-funding for international research on MSD. Alan has helped to find MSD patients around the world, promote natural history studies on MSD, discover and validate new biomarkers on MSD, create new animal models, produce new MSD cell lines, and fund multiple drug screening approaches and new drug development approaches.
Alan brought experts together in 2017 for the 1st MSD conference which resulted in consensus clinical care guidelines for MSD being published. These guidelines are deemed to be a gold standard of care for MSD patients. Alan encouraged families in a number of countries, to create charities with similar goals to the MSD Action Foundation to promote and support research on MSD. Alan initiated an effort to apply for a dedicated ICD10-CM code for MSD, which was approved and updated in late 2018. Since 2018, Alan has been on the steering committee, the patient board and the lysosomal sub-network of MetabERN, which is the European Reference Network for inherited metabolic disorders. Alan received a Global Genes ‘Rare Champion of Hope’ award in conjunction with Genetic Disorders UK in London in 2017.
Alan was the key player in establishing a collaboration with AbbVie in relation to a small molecule drug repurposing effort. This collaboration has secured EU funding and involves REMEDI4ALL, Fraunhofer ITMP, University Medical Center Göttingen and EATRIS with assistance from AbbVie, with the goal to move to clinical trials on MSD patients in 2024.
Alan has collaborated with Steven Gray’s MSD AAV9 gene therapy program, The Jackson Laboratory, United MSD Foundation and clinical collaborators since 2018 (funded by United MSD Foundation). The Bespoke Gene Therapy Consortium via the Foundation for the National Institutes of Health (FNIH) awarded funding in May 2023 to further develop this gene therapy program and conduct an MSD clinical trial, and Alan will be a collaborator with the entire team for this clinical trial.
Alan is a husband and father to two boys. Alan is a Carpenter/Joiner for over 25 years, and has worked on set construction and with the shooting crew on a number of movies and TV series. He has brought his problem-solving skills and his extraordinary attention to detail to the lysosomal field. Alan acknowledges that the impact he has made on MSD has only been possible with the help of excellent collaborators and dedicated patient families around the world.
The 2024 Patient Advocate Leader Award will be presented at 7:30 AM PST on Tuesday, February 6, 2024, at the 20th annual WORLDSymposium in San Diego, California.
2024 WORLDSymposium Young Investigator Awards Announced
Yuki Shiro, Esteban Gonzalez, Edina Poletto, Lena Marie Westermann, Tomas Baldwin, Sarah Hurt, Vi Pham, Betul Celik, Irene Serrano Gonzalo
Congratulations to the ten individuals selected who received the 20th Annual WORLDSymposium Young Investigator Award. The award is a partial scholarship towards attendance at WORLDSymposium. 81 investigators-in-training submitted an application for the award, and the review process was difficult due to the excellent caliber of all the applications. WORLDSymposium would like to congratulate all of the applicants for their hard work. The following individuals received the WORLDSymposium Young Investigator Award at the 20th Annual Scientific Meeting on Tuesday, February 6, at 7:30 AM PST
Tomas Baldwin, University College London, London, United Kingdom
Betul Celik, University of Delaware, Wilmington, DE, United States
Esteban Gonzalez, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil
Sarah Hurt, Washington University St. Louis, Saint Louis, MO, United States
Vi Pham, University of Pennsylvania, Philadelphia, PA, United States
Luisa Pimentel Vera, Stanford University, Stanford, CA, United States
Edina Poletto, Stanford University, Stanford, CA, United States
Irene Serrano Gonzalo, Fundación Española Para el Estudio y Terapéutica de la Enfermedad de Gaucher y Otras Lisosomales, Zaragoza, Spain
Yuki Shiro, Tokushima University, Tokushima, Japan
Lena Marie Westermann, University Medical Center Hamburg-Eppendorf, Hamburg, Germany
3rd Annual Robert J. Gorlin Symposium
Beyond the Blood Brain Barrier: Strategies for Treating the CNS
Course Director: Jeanine R. Jarnes, PharmD, MSc, BCOP, BCPS February 6, 2024 5:15 – 7:30 PM
The Annual Robert J. Gorlin Symposium honors the work of Robert James Gorlin, DDS, PhD. Dr. Gorlin was a geneticist, maxillofacial pathologist, and academician at the University of Minnesota School of Dentistry. Spanning over 50 years, his groundbreaking research in genetic disorders of the head and neck revolutionized the understanding of the morphology of lysosomal diseases and many other genetic disorders.
Overview
Each year, WORLDSymposium identifies an unmet need, or critical topic for presentation and discussion in the Annual Robert J. Gorlin Symposium. For 2024, this 2.25-hour non-CE session discussed current approaches for treating the central nervous system in lysosomal diseases. Presentations included an overview of current and future approaches for treating the central nervous system, and address challenges in identifying and implementing meaningful outcome measures for evaluating efficacy of central nervous system therapies.
The short-term mission of this session was to provide a broad, sweeping overview (“10,000-foot view”, or possibly even 30,000-foot view) of the current landscape for treating the central nervous system in lysosomal diseases, thereby giving a broad general impression of the current status of CNS treatments.
The long-term mission of this session was to set the stage for future, regularly-held meetings or workshops on this very topic. These future meetings will be designed for more in-depth coverage of key components, as well as generating white papers and creating a platform that will provide ongoing updates, and consensus-based levels of evidence.
Preliminary Agenda
Tuesday, February 6, 2024 (5:15 – 7:30 PM)
5:15 PM
Welcome (Jeanine R. Jarnes)
5:17 PM
Introduction (Robert G. Thorne)
5:20 PM
Overcoming challenges in quantifying developmental change for clinical trials (Elsa G. Shapiro)
5:30 PM
Crossing the blood-brain barrier with in utero enzyme replacement therapy for lysosomal diseases (Tippi MacKenzie)
5:40 PM
Intracerebroventricular infusion strategy for the delivery of cerliponase alfa to the central nervous system (Guillermo Seratti)
5:50 PM
Venglustat and the Brain (Mario Aguiar)
6:00 PM
Intra-cisterna magna administration of AAV gene therapy for neurodegenerative disorders (Samiah Al-Zaidy)
6:10 PM
JCR Pharmaceuticals tailored Approaches for Treating the Central Nervous System Signs and Symptoms in neuronopathic Lysosomal Diseases (Mathias Schmidt)
6:20 PM
Connecting the dots: Use of early biomarkers to predict longer term functional outcomes (Heather Lau)
6:30 PM
Fabry in the CNS? (Biliana Veleva-Rotse)
6:40 PM
Intracisternal administration of investigational AAV9 gene therapies to target the central nervous system in pediatric lysosomal disorders (Laura Pisani)
6:50 PM
Physiologic determinants of treatment efficacy for neuropathic lysosomal storage disorders: Key considerations in going across or bypassing the blood-brain barrier (Robert G. Thorne)
7:00 PM
Q & A
7:30 PM
Adjourn
Course Director: Jeanine R. Jarnes, PharmD, MSc, BCOP, BCPS Assistant Professor, Department of Pediatrics Pharmacotherapy for Inherited Metabolic Diseases Advanced Therapies Department College of Pharmacy, Experimental and Clinical Pharmacology University of Minnesota Minneapolis, MN, United States
Co-Chairs: Robert G. Thorne, PhD Denali Fellow Head, Denali Postdoc Program Denali Therapeutics, South San Francisco, CA Adjunct Associate Professor, Department of Pharmaceutics University of Minnesota-Twin Cities, Minneapolis, MN President, International Brain Barriers Society, Editorial Board Member, Fluids & Barriers of the CNS
Elsa G. Shapiro, PhD, ABPP Professor of Pediatrics and Neurology, Division of Pediatric Behavioral Neuroscience University of Minnesota, Minneapolis, MN Managing Partner at Shapiro Neuropsychology Consulting, LLC
Faculty
Tippi MacKenzie Professor of Surgery Division of Pediatric Surgery UCSF School of Medicine University of California, San Francisco
Guillermo Seratti Medical Director BioMarin Pharmaceutical Inc.
Mario Aguiar Venglustat Medical Lead Global Medical Affairs, Rare Diseases Sanofi
Samiah Al-Zaidy Vice President, Clinical Development PassageBio
Mathias Schmidt Vice President, Clinical Development, Global Business Strategy and Business Development JCR Pharmaceuticals
Heather Lau Executive Director, Global Clinical Development Ultragenyx
Biliana Veleva-Rotse Amicus Global Medical Director and Medicines Lead for Fabry Amicus Therapeutics
Laura Pisani Senior Medical Director, Clinical Development REGENXBIO
Thank you to the sponsors for this session
Elsa Shapiro, PhD to Receive the 2024 Roscoe O. Brady Award
Elsa Shapiro, PhD, retired in 2014 as Professor of Pediatrics and Neurology in the Division of Pediatric Behavioral Neuroscience at the University of Minnesota, but remains on the faculty. Dr. Shapiro is now leading a consulting partnership assisting pharmaceutical companies and other research institutions in the development of protocols and endpoints for natural history and clinical trials in patients with rare diseases.
Dr. Shapiro received her PhD in Psychology from the University of Minnesota and completed her internship and post-doctoral training at National Children’s Medical Center in Washington DC. She obtained an A.B.P.P from the American Board of Examiners in Professional Psychology. Prior to coming to the University of Minnesota in 1974, she held academic appointments at George Washington University and the University of California, Davis.
Dr. Shapiro founded and directed the Section of Pediatric Neuropsychology at the University of Minnesota, and started a well-recognized training program for post-doctoral fellows. In this capacity, she also held faculty and teaching appointments in the Institute of Child Development and the Department of Psychology, and was a founding member of the Center for Neurobehavioral Development.
Dr. Shapiro is known for research in neurobehavioral and neuroimaging manifestations of genetic neurodegenerative disorders. She developed methods of longitudinal assessment of neurocognitive functions, delineated the neurocognitive phenotypes of several genetic disorders, studied the relationships between quantitative neuroimaging and neuropsychology in treated and untreated children, and examined the characteristics of dementia in children with neurodegenerative diseases. She has more than 125 peer-reviewed publications and invited chapters. Recently, she was the co-Principal Investigator of the NIH-supported Lysosomal Disease Network, and Principal Investigator of Longitudinal Studies of Brain Structure and Function in the Mucopolysaccharidoses, until 2014. Her publications encompass neurocognitive, neurobehavioral, and neuroimaging profiles, development of new measures, natural history reports, and treatment effects in neurodegenerative disorders.
Congratulations to Dr. Shapiro from the entire WORLDSymposium audience! The 2024 Roscoe O. Brady Award was presented on Monday, February 5, at 7:30 AM PST, followed by a scientific presentation by Dr. Shapiro.
WORLDSymposium 2024 Poster Sessions
Last year, over 450 scientific abstracts were presented at eight separate poster sessions. These sessions are an excellent opportunity to see, hear and discuss specific research topics directly with the abstract authors. Although the ePoster content will be available to registered attendees throughout WORLDSymposium 2024 via the Mobile App, the opportunity for live Q&A with the presenters is limited to their assigned live poster sessions.
All abstracts received by the 2024 deadline were considered for platform presentation and inclusion in the special lysosomes issue of Molecular Genetics and Metabolism (MGM) which was published in February 2024. Poster acceptance notifications were emailed to the first author of the submitted abstract on or around November 15, 2023. Assigned poster numbers are available on the 2024 poster listing.
Due to publication deadlines, late-breaking abstracts are published in the program materials, and are not published in Molecular Genetics and Metabolism (MGM). Late-Breaking Poster acceptance notifications were emailed to the first author of the submitted abstract on or around December 15, 2023.
2024: Posters will be presented in four (4) Sessions
The poster sessions provide an excellent opportunity to discuss concepts, share knowledge, and exchange ideas with abstract authors and other WORLDSymposium participants. Authors who accepted a poster presentation were assigned to present their abstract during one of four Live (in-person) sessions in the Exhibit Hall, based on the final abstract category for each abstract. Poster presenters were required to be in attendance at their poster for their assigned timeframe.
In addition to a printed poster for the live meeting presentation, all poster presenters were required to submit an electronic version of their poster, which was available to attendees throughout WORLDSymposium 2024 in the Mobile App. Details on both the printed poster and ePoster requirements were emailed to the first author within the acceptance email. An ePoster submission link was sent to all first authors approximately one month prior to the start of WORLDSymposium 2024.
All registered attendees had access to the posters and ePosters which began at 3:00 PM PST, on Monday, February 5, 2024. The printed posters were displayed on poster board kiosks in the Exhibit Hall, during Exhibit hours at WORLDSymposium and remained available throughout WORLDSymposium 2024. ePosters were available on the WORLDSymposium Mobile App and the On Demand program until March 14, 2024.
All posters will be in the Exhibit Hall in the Seaport Ballroom:
Basic Science Abstracts will be presented on Monday, February 5 from 3:00-5:00 PMPST
Translational Research Abstracts will be presented on Tuesday, February 6 from 3:00-5:00 PMPST
Clinical Applications Abstracts will be presented on Wednesday, February 7 from 3:00-5:00 PMPST
Contemporary Forum Abstracts will be presented on Thursday, February 8 from 3:00-5:00 PMPST
*** Late-Breaking Science Posters (poster numbers starting with an LB) were divided between Monday, Tuesday and Thursday.
Basic Science
Poster Session I
Monday, February 5
3:00-5:00 PM
Translational Research
Poster Session II
Tuesday, February 6
3:00-5:00 PM
Clinical Applications
Poster Session III
Wednesday, February 7
3:00-5:00 PM
Contemporary Forum
Poster Session IV
Thursday, February 8
3:00-5:00 PM
Any poster numbers not listed were not presented as the author was unable to attend the conference.
2024 DIAMOND EXHIBITORS
Amicus Therapeutics
Amicus Therapeutics is a global, patient-dedicated biotechnology company focused on discovering, developing, and delivering novel high-quality medicines for people living with rare diseases. With extraordinary patient focus, Amicus Therapeutics is committed to advancing and expanding a pipeline of cutting-edge, first- or best-in-class medicines for rare diseases.
Sanofi
We are an innovative global healthcare company, driven by one purpose: we chase the miracles of science to improve people’s lives. Our team, across some 100 countries, is dedicated to transforming the practice of medicine by working to turn the impossible into the possible.
2024 PLATINUM EXHIBITORS
Chiesi Global Rare Diseases
Chiesi Global Rare Diseases is a business unit of the Chiesi Group established in February 2020 and focuses on research and development of treatments for rare and ultra-rare disorders. The unit is also a dedicated partner with global leaders to patient advocacy, research and patient care.
JCR Pharmaceuticals Co., Ltd.
JCR Pharmaceuticals Co., Ltd. (TSE 4552) is a global specialty pharmaceuticals company that is redefining expectations and expanding possibilities for people with rare and genetic diseases worldwide. We continue to build upon our 47-year legacy in Japan while expanding our global footprint into the US, Europe, and Latin America. We improve patients’ lives by leveraging our expertise in manufacturing and R&D to advance medicine. Our core values – reliability, confidence, and persistence – benefit all our stakeholders, including employees, partners, and patients. Together we soar.
Takeda Pharmaceutical Company Limited
Takeda is a global, values-based, R&D-driven biopharmaceutical leader headquartered in Japan, committed to discover and deliver life-transforming treatments, guided by our commitment to patients, our people and the planet. Takeda focuses its R&D efforts on four therapeutic areas: Oncology, Rare Genetic and Hematology, Neuroscience, and Gastroenterology (GI). We also make targeted R&D investments in Plasma-Derived Therapies and Vaccines.
2024 GOLD EXHIBITORS
Astellas Gene Therapies
Astellas Gene Therapies is an Astellas Center of Excellence developing genetic medicines with the potential to deliver transformative value for patients. Based on an innovative scientific approach and industry leading internal manufacturing capability and expertise, we are currently exploring various gene therapy modalities, including gene replacement. We are based in San Francisco, California with manufacturing and laboratory facilities in South San Francisco, California and Sanford, North Carolina.
Denali Therapeutics
Denali is a biotechnology company developing drug candidates engineered to cross the blood-brain barrier (BBB) for neurodegenerative diseases. We are committed to advancing new potential treatments for lysosomal disorders that affect the brain, starting with DNL310, our investigational IV enzyme replacement therapy for Hunter syndrome (MPS II).
Orchard Therapeutics
At Orchard Therapeutics, our vision is to end the devastation caused by genetic and other severe diseases. We aim to do this by discovering, developing and commercializing new treatments that tap into the curative potential of hematopoietic stem cell (HSC) gene therapy.
2024 EXHIBITORS
Amgen Rare Disease
Amgen is committed to unlocking the potential of biology for patients suffering from serious illnesses by discovering, developing, manufacturing and delivering innovative human therapeutics. A biotechnology pioneer since 1980, Amgen has reached millions of patients around the world and is developing a pipeline of medicines with breakaway potential.
ARCHIMEDlife
ARCHIMEDlife is an innovative and dynamic Medical Laboratory providing high quality, specialized diagnostic services for Rare Diseases, located in Vienna, Austria. The company is committed to helping physicians and their patients avoid diagnostic odysseys by delivering leading-edge, rapid services. More than 20,000 physicians in 80 countries have trusted in ARCHIMEDlife.
Azafaros B.V.
Azafaros is a clinical-stage biotech start-up, founded in 2018 by experienced industry professionals and scientists. We aspire to address rare genetic lysosomal storage disorders through a pipeline of oral small molecules with disease-modifying capability. Based on discoveries from Leiden University and Amsterdam University Medical Center in the Netherlands, Azafaros’ initial objective is to develop a potential disease-modifying therapy for GM1 and GM2 gangliosidoses and Niemann Pick C.
BioMarin Pharmaceutical Inc.
BioMarin is a world leader in developing and commercializing innovative therapies for rare diseases driven by genetic causes. With a 20-year history, BioMarin remains steadfast to its original mission—to bring new treatments to market that will make a big impact on small patient populations.
Greenwood Genetic Center
The Greenwood Genetic Center is a nonprofit institute organized to provide clinical genetic services, diagnostic laboratory testing, educational programs and resources, and research in the field of medical genetics.
Immusoft Corporation
Immusoft is developing a cutting-edge approach to the sustained delivery of protein therapeutics using a patient’s own cells. The approach is called Immune System Programming (ISP™). ISP entails collecting a type of the patient’s immune cells, called B cells. In response to immune stimulation, B cells can turn into a biofactory state known as a plasma cell.
Inozyme
Inozyme Pharma is a global leader in developing therapies for rare mineralization disorders.
Lysosomal & Rare Disorders Research & Treatment Center (LDRTC)
The Lysosomal & Rare Disorders Research & Treatment Center was founded in 2013 by Dr. Ozlem Goker-Alpan with a vision to provide high-quality care for individuals with lysosomal storage diseases and other rare genetic disorders.
Mirum Pharmaceuticals
Mirum Pharmaceuticals are committed to developing safe and effective therapies for people with rare diseases. Ultimately, we want to help patients and their families experience a bright future.
Multicare Pharma
Multicare Pharmaceuticals is a company dedicated to importing, exporting, and licensing innovative medicines to serve patients facing rare or complex diseases in Brazil. In addition to its work with rare diseases, the company also develops projects for foreign companies, whether or not installed in Brazil, that need a customized services platform with the objective of obtaining an effective participation in the national pharmaceutical market.
Passage Bio
Passage Bio (Nasdaq: PASG) is a clinical-stage genetic medicines company on a mission to provide life-transforming therapies for patients with CNS diseases with limited or no approved treatment options. Our portfolio spans pediatric and adult CNS indications, and we are currently advancing clinical programs in GM1 gangliosidosis and frontotemporal dementia and our preclinical pipeline, including programs in amyotrophic lateral sclerosis and Huntington’s disease.
Pearson Clinical Assessment
Pearson offers a breadth of assessments to help educators assess a student’s understanding, evaluate learning needs, check progress, and personalize an education path to college and career readiness.
QPS LLC
QPS is an award winning global CRO providing discovery, preclinical and clinical drug development services since 1995. Our mission is to accelerate pharmaceutical breakthroughs across the globe by delivering custom-built research services in Toxicology, DMPK, Neuropharmacology, Preclinical and Clinical Drug Development. QPS is known for quality, standards & technical expertise.
Ultragenyx
Ultragenyx is a biopharmaceutical company committed to bringing novel therapies to patients for the treatment of serious rare and ultra-rare genetic diseases. The company has built a diverse portfolio of approved medicines and treatment candidates aimed at addressing diseases with high unmet medical need and clear biology, for which there are typically no approved therapies treating the underlying disease.
Worldwide Clinical Trials
Worldwide Clinical Trials (Worldwide) is a leading full-service global contract research organization (CRO) that works in partnership with biotechnology and pharmaceutical companies to create customized solutions that advance new medications – from discovery to reality.
Zevra Therapeutics
Zevra Therapeutics is a rare disease company melding science, data, and patient need to create transformational therapies for diseases with limited or no treatment options. With unique, data-driven clinical, regulatory, and commercialization strategies, the Company is overcoming complex drug development challenges to bring much-needed therapies to patients.
2024 PATIENT ADVOCATE SHOWCASE
Cure Sanfilippo Foundation
Cure Sanfilippo Foundation is a 501c3 nonprofit with a mission to advocate for and fund research directed toward a cure or treatment options for children with Sanfilippo syndrome.
Gaucher Community Alliance
The GCA’s mission is to help those affected with all types of Gaucher disease live their fullest lives possible. We support patients and their families through peer-to-peer support and education, advocacy, patient and family resources, and networking. We hope to ensure that no families shall face this disease alone.
Global Genes
Global Genes is dedicated to eliminating the burdens and challenges of rare diseases for patients and families. In pursuit of our mission, we connect, empower, and inspire the rare disease community to become more effective on their own behalf — activating innovation, build capacity and drive progress across rare diseases.
International Niemann Pick Disease Alliance
The International Niemann Pick Disease Alliance (INPDA) is a global network of non-profit organisations, supporting persons affected by Niemann Pick diseases (NPD). The alliance was formed in 2009 to provide a forum for patient groups and professionals working in the field of NPD.
International Sanfilippo Syndrome Alliance
The International Sanfilippo Syndrome Alliance is a global collaboration committed to the rapid delivery of benefits and solutions for individuals with Sanfilippo syndrome and their families. The founding members of the Alliance are eleven organisations from ten countries who are working together on research initiatives and advocacy to create a stronger, united voice focused on Sanfilippo syndrome.
Living in the Light of Rare Diseases
Living in the Light™ is a patient advocacy initiative producing unique and engaging photo, video and written content that educates the biotech industry and medical communities about the realities of rare and chronic diseases, and the profound effect they have on families and daily life.
MLD Foundation
MLD Foundation has been serving families with Metachromatic Leukodystrophy for over 22 years. Our mission is we C.A.R.E.® – facilitating Compassion for families, increasing Awareness, influencing Research, and promoting Education about MLD. Besides helping families we are currently working to make MLD newborn screening a reality along with access/reimbursement.
National MPS Society
The National MPS Society exists to cure, support, and advocate for MPS and ML.
National Organization for Rare Disorders
NORD’s mission is to drive public policy, accelerate research and improve care for people living with rare diseases.
National Tay-Sachs & Allied Diseases Assoc. (NTSAD)
NTSAD leads the worldwide fight to treat and cure Tay-Sachs, Canavan, GM1, and Sandhoff diseases by driving research, forging collaboration, and fostering community. Supporting families is the center of everything we do.
Pompe Support Network
We are run by, and for, members of the Pompe community. As members of the UK LSD Collaborative and the International Pompe Association, we Influence research into safe, effective and affordable therapies, advocate for access to therapies and medical devices, share experiences and projects to improve physical and mental wellbeing.
The Assistance Fund
The Assistance Fund (TAF) is an independent charitable patient assistance organization that helps patients and families facing high medical out-of-pocket costs by providing financial assistance for their copayments, coinsurance, deductibles, and other health-related expenses. We currently manage nearly 90 disease programs, each of which covers all FDA-approved treatment for the disease named in the program.
United MSD Foundation
Founded in 2016, United MSD Foundation is a registered 501(c)(3) nonprofit serving an international community of Multiple Sulfatase Deficiency families, researchers, and care providers. We exist to bring awareness to MSD, fund research toward treatment, and support families through education, resources, and community.
2024 Satellite Symposia Schedule
Monday, February 5, 2024, 6:15 AM – 7:15 AM Patient-engagement in a New Digital World, from Diagnostics to Holistic Care Sponsored by Sanofi Click Here to Download Informational PDF
Monday, February 5, 2024, 11:45 AM – 12:45 PM Unraveling the Enigma: Overcoming Challenges in ASMD Diagnosis and Management in the Real World Sponsored by Sanofi Click Here to Download Informational PDF
Monday, February 5, 2024, 11:45 AM – 12:45 PM Momentum, Leadership & Diagnosis Changing the paradigm for metachromatic leukodystrophy (MLD) Sponsored by Orchard Therapeutics Click Here to Download Informational PDF
Tuesday, February 6, 2024, 6:15 AM – 7:15 AM Optimizing Outcomes in Late-Onset Pompe Disease: Integrating New Therapies, Whole-person Markers of Disease Monitoring, and Shared Decision-making into Practice CE Satellite Symposium Accredited provider: AKH Inc., Advancing Knowledge in Healthcare Jointly provided by AKH Inc., Advancing Knowledge in Healthcare and Catalyst Medical Education, LLC Supported by an unrestricted educational grant from Amicus Therapeutics, Inc. Click Here to Download Informational PDF
Tuesday, February 6, 2024, 6:15 AM – 7:15 AM Fact or Fiction: The Facts on Treatment for Families with Fabry Disease Sponsored by Sanofi Click Here to Download Informational PDF
Tuesday, February 6, 2024, 11:45 AM – 12:45 PM Gaucher Disease: The Evolving Big Picture Part I: Unmet Needs and Redefining the GD Spectrum CE Satellite Symposium Accredited provider: Postgraduate Institute for Medicine (PIM) Jointly provided by PIM and Saterdalen & Associates, LLC Supported by an independent educational grant from Takeda Pharmaceuticals U.S.A., Inc. Click Here to Download Informational PDF
Wednesday, February 7, 2024, 6:15 AM – 7:15 AM Advancing our knowledge of Galafold® (migalastat) treatment and monitoring strategies Sponsored by Amicus Therapeutics Click Here to Download Informational PDF
Wednesday, February 7, 2024, 6:15 AM – 7:15 AM Recognizing the Multisystemic Aspects of Pompe Disease and the Potential of Gene Therapy: A Conversation Sponsored by Astellas Gene Therapies Click Here to Download Informational PDF
Wednesday, February 7, 2024, 11:45 AM – 12:45 PM Gaucher Disease: The Evolving Big Picture Part II: Gaucher Disease Across the Lifespan CE Satellite Symposium Accredited provider: Postgraduate Institute for Medicine (PIM) Jointly provided by PIM and Saterdalen & Associates, LLC Supported by an independent educational grant from Takeda Pharmaceuticals U.S.A., Inc. Click Here to Download Informational PDF
Wednesday, February 7, 2024, 11:45 AM – 12:45 PM Moving forward together: Exploring a new treatment approach in LOPD Sponsored by Amicus Therapeutics Click Here to Download Informational PDF
Wednesday, February 7, 2024, 5:15 PM – 6:15 PM Perspectives on the Management of Fabry Disease Sponsored by Chiesi Global Rare Diseases Click Here to Download Informational PDF
Wednesday, February 7, 2024, 5:15 PM – 6:15 PM From Prevailing to Pioneering: Current and Emerging Biomarkers in Neurodegenerative Lysosomal Diseases Sponsored by Denali Therapeutics Click Here to Download Informational PDF
Thursday, February 8, 2024, 6:15 AM – 7:15 AM A Focus on Bone Manifestations in Gaucher Disease Type 1 Patients Sponsored by Sanofi Click Here to Download Informational PDF
Thursday, February 8, 2024, 6:15 AM – 7:15 AM Patient Spotlight: Alpha-mannosidosis Sponsored by Chiesi Global Rare Diseases Click Here to Download Informational PDF
Thursday, February 8, 2024, 11:45 AM – 12:45 PM Integrating New Evidence in Fabry Disease Monitoring and Management Sponsored by Sanofi This satellite is open only to registered attendees from outside the United States. International participants only. Click Here to Download Informational PDF
Thursday, February 8, 2024, 11:45 AM – 12:45 PM Neonatal Screening for lysosomal disorders: it is now time for clinical guidance CE Satellite Symposium Accredited provider: American Academy of CME, Inc. Jointly provided by American Academy of CME, Inc., Lysosomal & Rare Disorders Research & Treatment Center (LDRTC), and CheckRare CE Supported by educational grants from Chiesi and Takeda Pharmaceuticals. Click Here to Download Informational PDF
Thursday, February 8, 2024, 5:15 PM – 6:15 PM Unlocking the power of the patient voice Holistic care for patients with Fabry disease and alpha-mannosidosis Sponsored by Chiesi Global Rare Diseases Click Here to Download Informational PDF
Thursday, February 8, 2024, 5:15 PM – 6:15 PM The Rare Disease Ecosystem at a Crossroads: Is There a Need for Convergence in the Use of Evidence for Decision-making in Health Care? Sponsored by Sanofi Click Here to Download Informational PDF
2024 Catalyst Award
Merriam-Webster defines a catalyst as: “an agent that provokes or speeds significant change or action.”
The inaugural 2023 WORLDSymposium “Be The Catalyst” encouraged all attendees to be catalysts and spark change. In 2024, “Be The Catalyst” came back and even better!
In 2024, WORLDSymposium presented the first “Catalyst” award to Zachary Thomas, who was nominated in recognition of his efforts to instigate and expedite changes to newborn screening in Alabama.
Zachary Thomas is an Alabama teen and incredible rare disease policy advocate, born with MPS I, with a delayed diagnosis due to lack of newborn screening for MPS I in Alabama. As a result of Zachary’s efforts, The Zachary Thomas Newborn Screening Act was introduced to the Alabama state legislature in February 2024, with the goal of adding MPS I to the Alabama RUSP for Newborn Screening.
Many attended WORLDSymposium at the 2024 Be The Catalyst at 6:00 PM PST on Sunday, February 4, 2024, at the Manchester Grand Hyatt in San Diego, California, where Zachary was presented with the 2024 WORLDSymposium Catalyst Award.
WORLDSymposium™ 2024 Preliminary Program on Lysosomal Diseases
On Sunday afternoon, WORLDSymposium presented an exciting new program: The Patient Voice: Is Anyone Listening? The goal of this 2-hour non-CE session was to enhance awareness of the importance of listening to what therapy outcomes and unmet needs are most important to patients and their families, and incorporating those outcomes into clinical trial design and post-trial marketing follow-up.
Following the Patient Voice session, and celebrating 20 Years of WORLDSymposium, the 2nd Annual “Be the Catalyst” event, made possible by generous support from Sanofi, was an exciting event, open to all WORLDSymposium participants. This event provided opportunities to participate in all of the fun scheduled group photos, reconnect with colleagues, make new connections, establish new relationships, welcome new attendees, and celebrate the achievements of past and present WORLDSymposium Award Recipients.
After the presentation of the Innovation Award, the formal scientific sessions of WORLDSymposium 2024 officially began with presentations on laboratory research for lysosomal disease. Presentations during the Basic Science sessions were designed to improve our understanding or prediction of the phenomena involved in lysosomal pathology at a molecular, cellular, and animal model level in order to forwardly think about diagnosis and treatment of lysosomal conditions. These Basic Science sessions are always innovative and present the latest findings in the field. Download the WORLDSymposium 2024 program (PDF 200KB).
Basic Science
Co-Chairs: Lalitha Belur, Greg Grabowski, Michael Przybilla
Caitlin Calhoun CHOC Children’s Research Institute Orange, CA, United States
Functional efficacy of transplanted, iPSC-derived, human neural stem cells in the brains of MPS I mice
Bryce Binstadt University of Minnesota Minneapolis, MN, United States
Identification of inflammatory cells in dilated ascending aortas of IDUA-deficient (MPS I) mice
Esteban Alberto Gonzalez Universidade Federal do Rio Grande do Sul Porto Alegre, Brazil
Losartan treatment in mucopolysaccharidosis type I mice: Beneficial effects on aortic structure and pathways insights *2024 Young Investigator Award Recipient
Gabrielle Dineck Iop Hospital de Clínicas de Porto Alegre Porto Alegre, Brazil
Biomarker distribution in tissues of MPS I mice: Measurement of disease-specific oligosaccharides by LC-MS/MS
Irene Serrano Gonzalo Fundación Española Para el Estudio y Terapéutica de la Enfermedad de Gaucher y Otras Lisosomales Zaragoza, Spain
Bone involvement in Gaucher disease: Can miRNAs determine or predict the severity degree? *2024 Young Investigator Award Recipient
Francyne Kubaski Greenwood Genetic Center Greenwood, SC, United States
Sensitivity and specificity of serum oligosaccharide analysis for the diagnosis and treatment monitoring of patients with alpha-mannosidosis
Maria Fuller SA Pathology North Adelaide, Australia
A multiplex lipid platform improves the laboratory diagnosis of the sphingolipidoses
Sarah Young Duke University School of Medicine Durham, NC, United States
Measurement of glycosaminoglycans in the amniotic fluid of fetuses with mucopolysaccharidoses treated in a phase I clinical trial by in utero enzyme replacement therapy
Moderated Q&A
Serrano Gonzalo, Kubaski, Fuller, Young
2:00 PM
Jerry Fuad Harb Children’s Hospital of Orange County Orange, CA, United States
Exploring Pompe disease: Insights into the natural history of novel Gaac.1826dupA knock-in murine model
Chloe L. Christensen Children’s Hospital of Orange County Orange, CA, United States
Restoration of acid-alpha glucosidase expression and function through efficient adenine base editing of Pompe disease variants
Shih-hsin Kan CHOC Children’s Research Institute Orange, CA, United States
Improvement of hypertrophic cardiomyopathy in Gaac.1826dupA knock-in murine model with neonatal gene therapy
Patricia Lam Abigail Wexner Research Institute at Nationwide Children’s Hospital Columbus, OH, United States
Liver-directed AAV gene therapy corrects disease symptoms in a murine model of lysosomal acid lipase deficiency
Bartholomew A. Pederson Ball State University Muncie, IN, United States
A novel siRNA targeting and delivery platform inhibits glycogen synthesis and reduces glycogen levels in skeletal and cardiac muscle in a mouse model of Pompe disease
Luisa Natalia Pimentel Vera Stanford University Stanford, CA, United States
Genome-edited hematopoietic stem cells as a curative approach for Gaucher disease type 1 *2024 Young Investigator Award Recipient
Edina Poletto Stanford University Stanford, CA, United States
Clinical development of autologous genome-edited hematopoietic stem cells to treat mucopolysaccharidosis type I *2024 Young Investigator Award Recipient
Allisandra Rha Children’s Hospital of Orange County Orange, CA, United States
Prime editing corrects the Gaac.1935C> A pathogenic variant in infantile-onset Pompe disease mouse myoblasts
Sandra Vranic University of Manchester Manchester, United Kingdom
Graphene flakes for enhanced delivery of the enzyme to the lysosomes of patient-derived fibroblasts: Bio-persistence and kinetics of substrate degradation
Tomas Baldwin University College London London, United Kingdom
The development and application of a rapid and more informative test for autoantibodies to enzyme replacement therapies in Fabry disease *2024 Young Investigator Award Recipient
Sarah Hurt Washington University St. Louis Saint Louis, MO, United States
Anti-IDUA IgG alters cortical bone structure of mucopolysaccaridosis type I mice treated with intravenous enzyme replacement therapy *2024 Young Investigator Award Recipient
Lena Marie Westermann University Medical Center Hamburg-Eppendorf Hamburg, Germany
Analysis of drug-specific antibody response against cerliponase alfa in CLN2 patients by applying a novel two-step assay *2024 Young Investigator Award Recipient
Moderated Q&A
Vranic, Baldwin, Hurt, Westermann
2:00 PM
Logan M. Glasstetter National Institutes of Health Bethesda, MD, United States
A novel quantitative high-throughput screening assay identifies small-molecule therapeutic candidates for Gaucher and Parkinson disease
Dietrich Matern Mayo Clinic Rochester, MN, United States
Newborn screening for Krabbe disease: Status quo and recommendations for improvements
Delaney E. Wilton University of Minnesota Minneapolis, MN, United States
Is time growth? The impact of early initiation and duration of enzyme replacement therapy on growth in Hurler syndrome
Fabiano O. Poswar Hospital de Clínicas de Porto Alegre Porto Alegre, Brazil
Safety and tolerability of losartan for the treatment of cardiovascular manifestations in mucopolysaccharidoses types IVA and VI
Beyond the Blood Brain Barrier: Strategies for Treating the CNS
5:15 PM
Jeanine R. Jarnes University of Minnesota Minneapolis, MN, United States
Welcome
5:17 PM
Robert G. Thorne Denali Therapeutics
Introduction
5:20 PM
Elsa G. Shapiro University of Minnesota Minneapolis, MN, United States
Overcoming challenges in quantifying developmental change for clinical trials
5:30 PM
Tippi MacKenzie University of California San Francisco, CA, United States
Crossing the blood-brain barrier with in utero enzyme replacement therapy for lysosomal diseases
5:40 PM
Guillermo Seratti BioMarin Pharmaceutical Inc.
Intracerebroventricular infusion strategy for the delivery of cerliponase alfa to the central nervous system
5:50 PM
Mario Aguiar Sanofi
Venglustat and the Brain
6:00 PM
Samiah Al-Zaidy PassageBio
Intra-cisterna magna administration of AAV gene therapy for neurodegenerative disorders
6:10 PM
Mathias Schmidt JCR Pharmaceuticals
JCR Pharmaceuticals tailored Approaches for Treating the Central Nervous System Signs and Symptoms in neuronopathic Lysosomal Diseases
6:20 PM
Heather Lau Ultragenyx
Connecting the dots: Use of early biomarkers to predict longer term functional outcomes
6:30 PM
Biliana Veleva-Rotse Amicus Therapeutics
Fabry in the CNS?
6:40 PM
Laura Pisani REGENXBIO
Intracisternal administration of investigational AAV9 gene therapies to target the central nervous system in pediatric lysosomal disorders
6:50 PM
Robert G. Thorne Denali Therapeutics
Physiologic determinants of treatment efficacy for neuropathic lysosomal storage disorders: Key considerations in going across or bypassing the blood-brain barrier
7:00 PM
Q & A
7:30 PM
Adjourn
Wednesday began with a keynote address from Dr. Peter Marks: “Accelerating the Pace of Progress in Gene Therapy.” Following Dr. Marks’s address, the presentations shifted to Clinical Applications, including abstracts on Clinical Trials for Registration. Abstracts presented in this category had a US FDA Investigational New Drug (IND) application for a phase I-III clinical trial or hold an EMA Investigational Medicinal Product Dossier (IMPD) or equivalent. Clinical Outcomes abstracts also were presented. Download the WORLDSymposium 2024 program (PDF 200KB).
Clinical Applications
Co-Chairs: Marc Patterson, Lynda Polgreen, Filippo Vairo
Peter Marks Center for Biologics Evaluation and Research US Food & Drug Administration (FDA) Silver Spring, MD, United States
Keynote Address: Accelerating the Pace of Progress in Gene Therapy
8:00 AM
Robert J. Hopkin Cincinnati Children’s Hospital Medical Center Cincinnati, OH, United States
Isaralgagene civaparvovec (ST-920) gene therapy in adults with Fabry disease: Updated results from an ongoing phase 1/2 study (STAAR)
Simon Jones St. Mary’s Hospital Manchester, United Kingdom
Clinical outcomes and sustained biochemical engraftment following ex-vivo autologous stem cell gene therapy for mucopolysaccharidosis type IIIA
Francesca Fumagalli IRCCS San Raffaele Hospital Milan, Italy
Atidarsagene autotemcel (autologous hematopoietic stem cell gene therapy) preserves cognitive and motor development in early-onset metachromatic leukodystrophy with up to 12 years follow-up
Paul Harmatz UCSF Benioff Children’s Hospital Oakland, CA, United States
CAMPSIITE™ phase I/II/III: An interim clinical study update of RGX-121, an investigational gene therapy for the treatment of neuronopathic mucopolysaccharidosis type II (MPS II)
Moderated Q&A
Hopkin, Jones, Fumagalli, Harmatz
9:00 AM
Angela Schulz University Medical Center Hamburg-Eppendorf Hamburg, Germany
Cerliponase alfa for the treatment of CLN2 disease in a patient cohort including children under 3 years of age
Joseph Muenzer University of North Carolina Chapel Hill School of Medicine Chapel Hill, NC, United States
Interim analysis of a phase 1/2 study of weekly intravenous DNL310 (brain-penetrant enzyme replacement therapy) in mucopolysaccharidosis type II
Yoshikatsu Eto Institute of Neurological Disease Kawasaki City, Japan
Integrated long-term efficacy and safety data on enzyme replacement therapy with pabinafusp alfa for neuronopathic mucopolysaccharidosis type II (MPS II): Updated clinical data from Japan and Brazil
Nathalie Guffon Hôpital Femme Mère Enfant Lyon, France
Long‑term efficacy of velmanase alfa treatment in patients with alpha‑mannosidosis: Pooled data from two extension studies (up to 12 years of therapy)
Armaan Saith Yale University School of Medicine New Haven, CT, USA
Digenic disorders in patients with Gaucher disease: Implications for clinical management and study of modifier genes
Arunabha Ghosh St. Mary’s Hospital Manchester, United Kingdom
Safety and preliminary efficacy of LYS-GM101 gene therapy in patients with GM1 gangliosidosis: Results of a phase I/II open-label clinical trial
Precilla D’Souza National Human Genome Research Institute, National Institutes of Health Bethesda, MD, United States
Intravenous delivery of AAV9-GLB1 gene therapy for GM1 gangliosidosis: An interim analysis
Carolina Fischinger Moura de Souza Hospital de Clínicas de Porto Alegre Porto Alegre, Brazil
Interim results from the first-in-human intracisternal dosing of RGX-181 investigational AAV9 gene therapy in a child with late infantile neuronal ceroid lipofuscinosis type 2 (CLN2)
Erin Huggins Duke University Durham, NC, United States
Experience with enzyme replacement therapy in children with late-onset Pompe disease diagnosed via newborn screening in the United States
Suresh Vijay Birmingham Children’s Hospital Birmingham, United Kingdom
Survival achieved in infants with rapidly progressive LAL-D via sebelipase alfa ERT: Results from the International LAL-D Registry
Roberto Giugliani Federal University of Rio Grande do Sul Porto Alegre, Brazil
Efficacy and safety data (52-week) from a phase 1/2 trial and extension study of JR-171 (lepunafusp alfa) used in enzyme replacement therapy for patients with MPS I
Motomichi Kosuga National Center for Child Health and Development Tokyo, Japan
Efficacy and safety of combination of HSCT & ICV ERT for neuropathic mucopolysaccharidosis type II
Moderated Q&A
Huggins, Vijay, Giugliani, Kosuga
2:00 PM
Manisha Balwani Icahn School of Medicine at Mount Sinai New York, NY, United States
Age-specific risk of Parkinson disease and Parkinsonian syndrome in patients with Gaucher disease type 1: Real-world evidence from the International Collaborative Gaucher Group Gaucher Registry
Caroline Aimee Hastings UCSF Benioff Children’s Hospital Oakland Oakland, CA, United States
Transport®NPC: open phase 3 global trial of intravenous hydroxy-propyl-beta-cyclodextrin in patients with Niemann-Pick disease type C1 (NPC1)
Troy Lund University of Minnesota Minneapolis, MN, United States
Changes in CSF GAG after intravenous enzyme replacement therapy
Antonio Pisani University Federico II Naples, Italy
Clinical outcomes in patients switching from agalsidase beta to migalastat: A Fabry Registry analysis
The fourth research day of the meeting began with the New Treatment Award. Then, for the fifth year, the Contemporary Forum allowed for presentation of scientific abstracts — Basic, Translational, and Clinical — submitted by industry first-author researchers. Although the first three days of WORLDSymposium were accredited and approved for CE credit, Commercial Interests were not eligible for ACCME accreditation. The Contemporary Forum allows commercial interests to present their work to the WORLDSymposium audience, in this non-CE session, while being held to all the same standards as the ACCME accredited sessions and scored for merit and interest by the same Program Committee. Download the WORLDSymposium 2024 program (PDF 200KB).
Contemporary Forum
Co-Chairs: PJ Brooks, Nishitha Pillai, Uma Ramaswami
Christina Ohnsman REGENXBIO Inc. Rockville, MD, United States
RGX-381: Interim results from the first-in-human clinical trial of an investigational gene therapy for the treatment of ocular manifestations of CLN2 Batten disease
Shyam Ramachandran Sanofi Waltham, MA, United States
AAV-ARSA mediated gene replacement for the treatment of metachromatic leukodystrophy
Kathleen E. Meyer Sangamo Therapeutics Brisbane, CA, United States
A 3-month gene therapy single-dose IV administration pharmacology and safety study with ST-920 (isaralgagene civaparvovec) for Fabry disease in mice
Michael R. DiGruccio M6P Therapeutics St. Louis, MO, United States
Hyperactive GlcNAc-1-Phosphotransferase (S1S3 PTase) dramatically increases M6P levels on lysosomal enzymes for substantially improved receptor binding and cellular uptake
Moderated Q&A
Ohnsman, Ramachandran, Meyer, DiGruccio
9:00 AM
Dongkyu Jin Novel Pharma Inc Seoul, Republic of Korea
A phase III clinical trial of GC1111 as an enzyme replacement therapy in previously untreated mucopolysaccharidosis type II (Hunter syndrome) patients: A double-blind, randomized, active-controlled (part 1) and open-labeled, historical placebo-controlled (part 2) study
Franklin Johnson Amicus Therapeutics, Inc. Princeton, NJ, United States
Trial in progress: An open-label study (AT1001-025) to evaluate the safety and pharmacokinetics of migalastat in patients with Fabry disease and amenable GLA variants and severe renal impairment or end-stage renal disease treated with hemodialysis
Taylor Fields IntraBio Oxford, United Kingdom
Results of a phase III, randomized, placebo-controlled crossover trial with N-acetyl-L-leucine for Niemann-Pick disease type C
Tarekegn Gerberhiwot University of Birmingham Birmingham, United Kingdom
Investigating the role of miglustat in the management of a patient with Tangier disease: An n-of-1 study with alternating periods of intervention and control
Stuart Gaffney Chiesi Global Rare Diseases Glasgow, United Kingdom
Medical education needs to improve diagnosis of Fabry disease in the UK
Ashley Volz BioMarin Pharmaceutical Inc. Novato, CA, United States
Skeletal dysplasia gene panel with integrated enzyme follow-up for the diagnosis of lysosomal disorders: MPS IVA case series
Vanessa Rangel Miller Ultragenyx Pharmaceutical Inc. Novato, CA, United States
Parallel biochemical and genetic testing informs a timely and accurate diagnosis of MPS VII: Findings from 5 years of sponsored testing programs
Raymond Y. Wang Children’s Hospital of Orange County Orange, CA, United States
First in-human, intracisternal dosing of RGX-111, an investigational AAV gene therapy, for a 21-month-old child with mucopolysaccharidosis type I (MPS I): 3.5 year follow-up
R. Scott McIvor Immusoft Corporation Seattle, WA, United States
First-in-human clinical trial of genetically engineered B cells: Application to the treatment of mucopolysaccharidosis type I
Shababa T. Masoud Denali Therapeutics South San Francisco, CA, United States
ETV:SGSH, a brain-penetrant enzyme transport vehicle for SGSH, improves lysosomal and microglial morphology, degeneration and cognitive behavior in MPS IIIA mice
Atsushi Imakiire JCR Pharmaceuticals Co., Ltd. Kobe, Japan
Recovery of retinal function in MPS II mice by treatment with pabinafusp alfa
Monika Musial-Siwek Be Biopharma Cambridge, MA, United States
Development of an ex vivo precision gene engineered B cell medicine that produces highly active and sustained levels of acid sphingomyelinase for the treatment of Neimann-Pick disease
Moderated Q&A
McIvor, Masoud, Imakiire, Musial-Siwek
2:00 PM
Dustin Armstrong Parasail LLC Quincy, MA, United States
A clinical candidate (VAL-1221) capable of treating multiple glycogen storage diseases including Lafora and other neurological polyglucosan disorders
Arjan van der Flier Sanofi Cambridge, MA, United States
Anti-human-TfR-GAA efficiently clears CNS and muscle glycogen in a translatable hTfR-KI/Pompe disease mouse model
Christian Argueta Takeda Pharmaceuticals Americas, Inc. Cambridge, MA, United States
Baseline levels of neurofilament light chain in the cerebrospinal fluid correlate with clinical outcomes in patients with MPS II from a phase 2/3 clinical trial (NCT02055118) and extension study (NCT02412787) of intrathecal idursulfase
Michael H. Gelb University of Washington Seattle, WA, United States
Second-tier glycosaminoglycan analysis in dried blood spots by the endogenous non-reducing end method provides the best approach for reducing false positives in newborn screening of all sub-types of mucopolysaccharidoses
Toward bringing the most recent research to the platform of WORLDSymposium 2024, after the late-breaking abstract submissions closed on December 1, 2023, selected late-breaking abstracts were identified by the Program Committee as being suitable for platform presentation. In order to provide access to the “hot-off-the-presses” content from these researchers, late-breaking abstracts were reviewed and scored, and the top-scoring abstracts were selected for presentation during the 2024 meeting. Download the WORLDSymposium 2024 program (PDF 200KB).
Late-Breaking Science
Co-Chairs: Rebecca Ahrens-Nicklas, Elizabeth Braunlin, Roberto Giugliani
8:00 AM
Krystyna Rytel National Institutes of Health Bethesda, MD, United States
Multi-omic analysis of iPSC-derived neurons from pairs of siblings with Gaucher disease discordant for Parkinson disease
Beatriz Guzman Gain Therapeutics Lugano, Switzerland
GT-02287, a clinical stage GCase enhancer, displays neuroprotection and restores motor function in preclinical models of Parkinson disease following delayed administration
Ewa Ziólkowska Washington University School of Medicine in St. Louis St. Louis, MO, United States
Gene therapy treats the neuromuscular consequences of CLN3 deficiency in mice
Xiangli Zhao Yale University School of Medicine New Haven, CT, United States
Blockage of C5a/C5aR1 signaling neutralizes the aggravating effects of progranulin deficiency in Gaucher disease
Moderated Q&A
Rytel, Guzman, Ziólkowska, Zhao
9:00 AM
Mark Sands Washington University School of Medicine St. Louis, MO, United States
Haploinsufficiency of lysosomal enzymes and Alzheimer’s disease
Shunji Tomatsu Nemours Children’s Health Wilmington, DE, United States
Preclinical studies of AAV vectors with tissue-specific, tandem, and ubiquitous promoters for mucopolysaccharidosis type IVA mice
John Mitchell McGill University Health Centre Montreal, QC, Canada
Co-developing The Canadian MPS Registry: A longitudinal rare disease patient registry
Petra Oliva ARCHIMEDlife Vienna, Austria
Results of prospective newborn screening for metachromatic leukodystrophy in Germany and Austria
Moderated Q&A
Sands, Tomatsu, Mitchell, Oliva
10:00 AM
Break
10:15 AM
Heather Lau Ultragenyx Pharmaceutical Inc Novato, CA, United States
Reduction of heparan sulfate (HS) exposure in cerebrospinal fluid (CSF) correlates with improved long-term cognitive function in patients with mucopolysaccharidosis type IIIA (MPS IIIA) following treatment with UX111 gene therapy
Maria Escolar Forge Biologics Grove City, OH, United States
Reklaim, a novel phase IB clinical trial of FBX101 (AAVrh10.galc) intravenously administered after UCBT for the treatment of infantile Krabbe disease
Mark Thomas Royal Perth Hospital Perth, Australia
Phase 1/2 clinical trial evaluating 4D-310 in adults with Fabry disease cardiomyopathy: Interim analysis of cardiac and safety outcomes in patients with 10-32 months of follow-up
Maria Acosta National Human Genome Research Institute Bethesda, MD, United States
Gains in neuronal tracks in GM1 gangliosidosis patients following intravenous gene therapy. Differential tractography a robust outcome measure for neurodegenerative disease
Moderated Q&A
Lau, Escolar, Thomas, Acosta
11:15 AM
WORLDSymposium 2024 Adjourns
2nd Annual Robert J. Gorlin Symposium
Precision Medicine: A multidisciplinary approach
Program Chair: Jeanine R. Jarnes, PharmD February 21, 2024 2:00 – 3:30 PM Eastern Standard Time (EST)
The Robert J. Gorlin Symposium honors the work of Robert James Gorlin, DDS, PhD. Dr. Gorlin was a geneticist, maxillofacial pathologist, and academician at the University of Minnesota School of Dentistry. His groundbreaking research in genetic disorders of the head and neck, spanning over 50 years, revolutionized the understanding of the morphology of lysosomal diseases and many other genetic disorders. The 2nd Annual Robert J. Gorlin Symposium will focus on precision medicine in lysosomal diseases.
Overview
The goal of this 90 minute symposium held at WORLDSymposium 2023 will be to address the tremendous opportunity for Precision Medicine in lysosomal diseases. Over the past decade there has been much discussion about “Precision Medicine” and its use for many different diseases, including lysosomal disorders. Although it is not a new concept, more and more researchers and clinicians are recognizing that precision medicine must guide the path forward for patients with lysosomal diseases. At its core, the goal of precision medicine is to customize the treatment plan for a specific individual. This precision approach attempts to utilize expanded genotyping to guide clinicians to determine which treatments will most benefit a specific patient. In lysosomal disorders, the genotype and phenotype of the individual patient are particularly important. Clinicians must keep all of this in mind, along with environmental, geographic and cultural influences. The hope is for all patients with lysosomal disorders to be able to benefit from targeted diagnosis, prevention, and treatment plans. This symposium will tap into the resources of a multidisciplinary panel to provide a comprehensive approach to precision medicine going forward. The session will discuss the history of precision medicine, the role of pharmacogenetics and pharmacogenomics, the status of precision medicine with case examples for several lysosomal diseases, and how to implement precision medicine programs for lysosomal diseases. The session will conclude with a panel discussion and audience Q&A.
Preliminary Agenda
Tuesday, February 21, 2023 (2:00 – 3:30 PM)
1:45 PM
Doors Open and Participant Seating
2:00 PM
Welcome and Introduction of Speakers (Jeanine R. Jarnes)
2:05 PM
Overview of Precision Medicine (Jeanine R. Jarnes)
2:15 PM
Case Studies of Multi-Omic Approach for the Diagnosis of Lysosomal Diseases (Filippo Pinto e Vairo)
2:35 PM
NIH-Funded Resources: ClinGen and ClinVar (Jennifer Goldstein)
2:55 PM
Implementation of Pharmacogenomics Programs within Clinical Settings (Jeanine R. Jarnes)
3:10 PM
Panel Discussion and Audience Q&A
3:30 PM
Adjourn
Learning Objectives
At the conclusion of one or more of the proposed activities, participants will be better able to:
Review the definition of precision medicine, identifying opportunities to impact lysosomal disease diagnosis and treatment.
Delineate new analytical methods, multi-omic data analysis, and translational research to identify a diagnosis in patients for whom other testing was not sufficient to return a genetic diagnosis.
Discuss the role of the NIH ClinGen and ClinVar central databases, including the classification of pathogenicity and the resources available to clinicians.
Identify steps to implement pharmacogenomics and precision medicine programs within clinical settings.
Target Audience
This activity is intended for healthcare professionals involved in the screening, diagnosis, management, and treatment of lysosomal diseases affecting both children and adults, with research and clinically relevant information geared specifically to the following professionals:
Medical and clinical geneticists; genetic counselors; pediatricians; neurologists; psychologists; nurse practitioners; physician assistants; registered nurses; and all medical practitioners who are providing comprehensive diagnostic, management, and counseling services for patients with, or at risk for, lysosomal diseases.
Laboratory directors and technicians involved in genetic testing.
Researchers involved in lysosomal disorders and treatments.
Clinical, laboratory and research trainees of genetics and all biomedical sciences with a focus on lysosomal diseases.
Any healthcare and public health professionals who have an interest in medical and clinical genetics and genomics in the area of lysosomal diseases.
Advocates for patients with lysosomal diseases and their families.
Chair: Jeanine R. Jarnes, PharmD, BCOP, BCPS Assistant Professor, Department of Pediatrics Pharmacotherapy for Inherited Metabolic Diseases Advanced Therapies Department College of Pharmacy, Experimental and Clinical Pharmacology University of Minnesota Minneapolis, MN, USA
Faculty: Filippo Pinto e Vairo, MD, PhD Associate Consultant, Department of Clinical Genomics, Center for Individualized Medicine Associate Professor of Medical Genetics Mayo Clinic Rochester, MN, USA
Jennifer Goldstein, PhD, CGC Senior Biocurator, ClinGen Biocuration Core Research Assistant Professor, Department of Genetics UNC-Chapel Hill Chapel Hill, NC, USA
This activity was jointly provided by Partners for Advancing Clinical Education (PACE) and WORLDSymposium™
Joint Accreditation Statement: In support of improving patient care, this activity was planned and implemented by Partners for Advancing Clinical Education (PACE) and WORLDSymposium. PACE is jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.
Physician Continuing Education: PACE designates this live activity for a maximum of 1.5 AMA PRA Category 1 Credit(s)™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.
NursingContinuing Education: The maximum number of hours awarded for this Continuing Nursing Education activity is 1.5 contact hours.
This activity is supported by educational grants from Chiesi USA, Inc., Takeda Pharmaceuticals USA, Inc., 4D Molecular Therapeutics, and Ultragenyx.
Disclosure of Conflicts of Interest: PACE requires instructors, planners, managers, and other individuals who are in a position to control the content of this activity to disclose all financial relationships they may have with ineligible companies. All relevant financial relationships are thoroughly vetted and mitigated according to PACE policy. PACE is committed to providing learners with high-quality accredited CE activities and related materials that promote improvements or quality in healthcare and not a specific proprietary business interest of an ineligible company.
Emerging Trends in Lysosomal Biology & Lysosomal Diseases: State-of-the-Art for Experts
Tuesday, February 21, 2023, 4:00 – 6:00 PM EST
For the eleventh consecutive year, WORLDSymposium™ began with “Emerging Trends”. This 2-hour CME/CE course provides a state-of-the-art update for experts working in lysosomal biology and lysosomal diseases. This course is a summary of the latest research trends and other advances in the field.
Seasoned researchers provide a global review of the past years’ advances, a state-of-the-art overview of lysosome biology, diseases and therapies. This review evolves every year, providing a summary of the latest research trends, new knowledge, and other discoveries. The course is intended for researchers and health care practitioners who are interested in being current on recent advances in the basic science, diagnosis, and treatment of lysosomal diseases. This course is taught at the postgraduate level, e.g., those with a PhD, MD, PharmD, DDS, MS, MPH, etc.
The content provides comprehensive information on lysosomal diseases, but does not overlap or replace the scientific data being presented during WORLDSymposium 2023.
Learning Objectives
Upon completion of this educational activity, the participant should be better able to:
Describe the basic structure, function and molecular biology of lysosomes.
Identify specific lysosomal diseases, their clinical manifestations, and means of diagnosis.
Review current treatments for lysosomal diseases, the potential side effects, and their expected clinical outcomes.
Correlate the molecular biology of lysosomes with clinical features, diagnostic testing, and treatment approaches.
Identify important regulatory considerations in the design of a clinical trial for lysosomal diseases.
2023 Emerging Trends Agenda
Introduction Chester B. Whitley, PhD, MD
Lysosomal Function and Pathogenesis Gregory A. Grabowski, MD
Clinical Features Marc C. Patterson, MD
Newborn Screening Amy Gaviglio, MS, LCGC
Lysosomal Disease Therapies Jeanine R. Jarnes, PharmD
Regulatory Review Christine Yuen-Yi Hon, PharmD
Patient Perspective Jennifer Klein, MS
Rare Disease Research N. Matthew Ellinwood, DVM, PhD
Panel Q&A All Speakers
2023 Emerging Trends Faculty
Chair: Chester B. Whitley, PhD, MD Course Director WORLDSymposium and “Emerging Trends: State-of-the-Art for Experts” Professor, Department of Pediatrics, and Experimental and Clinical Pharmacology University of Minnesota Principal Investigator, Lysosomal Disease Network Minneapolis, MN, USA
Gregory A. Grabowski, MD Professor Emeritus University of Cincinnati College of Medicine Departments of Pediatrics, and Molecular Genetics, Biochemistry and Microbiology Division of Human Genetics Cincinnati Children’s Hospital Research Foundation Cincinnati, OH, USA
Marc C. Patterson, MD, FRACP Professor of Neurology, Pediatrics and Medical Genetics Editor-in-Chief, Journal of Child Neurology and Child Neurology Open Editor, Journal of Inherited Metabolic Disease and JIMD Reports Mayo Clinic Children’s Center Rochester, MN, USA
Amy Gaviglio, MS, LCGC G2S Corporation Newborn Screening and Molecular Biology Branch Division of Laboratory Sciences, NCEH Centers for Disease Control and Prevention Minneapolis, MN, USA
Jeanine R. Jarnes, PharmD, BCOP, BCPS Assistant Professor, Department of Pediatrics Pharmacotherapy for Inherited Metabolic Diseases Advanced Therapies Department College of Pharmacy, Experimental and Clinical Pharmacology University of Minnesota Minneapolis, MN, USA
Christine Yuen-Yi Hon, PharmD Clinical Analyst Division of Rare Diseases & Medical Genetics Office of New Drugs | CDER | FDA Silver Spring, MD, USA
Jennifer Klein, MS Operations and Program Management Odylia Therapeutics Scientific Advisory Board, ISMRD Co-Founder, Mucolipidosis Collaborative Research Network Adult Resource Committee National MPS Society Durham, NC, USA
N. Matthew Ellinwood, DVM, PhD Chief Scientific Officer National MPS Society Durham, NC, USA
Target Audience: This activity has been designed for geneticists, pediatricians, primary care practitioners, registered nurses, nurse practitioners, physician assistants, genetic counselors, and other researchers and health care practitioners involved with the identification of disease mechanisms and potential treatments, or involved with the diagnosis and management of individuals with lysosomal diseases. In addition, the content is designed to be applicable to individuals with lysosomal diseases and their family members, as well as advocacy groups involved with raising awareness.
Joint Accreditation Statement: In support of improving patient care, this activity has been planned and implemented by Partners for Advancing Clinical Education (PACE) and WORLDSymposium. PACE is jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.
Physician Continuing Education: PACE designates this activity for a maximum of 2.0 AMA PRA Category 1 Credit(s)™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.
NursingContinuing Education: The maximum number of hours awarded for this Continuing Nursing Education is 2.0 contact hours.
Genetic Counselor CEUs: The National Society of Genetic Counselors (NSGC) has authorized WORLDSymposia, LLC, to offer up to 2.583 CEUs or 25.83 Category 1 contact hours for the activity 19th Annual WORLDSymposium 2023.The American Board of Genetic Counseling (ABGC) will accept CEUs earned at this program for the purposes of genetic counselor certification and recertification.
WORLDSymposium – 2.583 CEUS or 25.83 Category 1 contact hours
WORLDSymposium™ 2023 Preliminary Program on Lysosomal Diseases
On Tuesday afternoon, the 2nd Annual Robert J. Gorlin Symposium honored the work of Robert James Gorlin, DDS, PhD. Dr. Gorlin was an maxillofacial pathologist, geneticist and academician at the University of Minnesota School of Dentistry. His groundbreaking research in genetic disorders of the head and neck, spanning over 50 years, revolutionized the understanding of the morphology of lysosomal diseases and many other genetic disorders. The 2nd Annual Robert J. Gorlin Symposium focused on precision medicine in lysosomal diseases.
Following the Gorlin Symposium, seasoned researchers provided a global review of the past years’ advances, including a state-of-the-art overview of lysosome biology, diseases and therapies in the Emerging Trends Session. This review evolves every year, providing a summary of the latest research trends, new knowledge, and other discoveries. The course is intended for researchers and health care practitioners who are interested in being current on recent advances in the basic science, diagnosis, and treatment of lysosomal diseases.
After the presentation of the Innovation Award, the formal scientific sessions of WORLDSymposium 2023 officially began with presentations on laboratory research for lysosomal disease. Presentations during the Basic Science sessions are designed to improve our understanding or prediction of the phenomena involved in lysosomal pathology at a molecular, cellular, and animal model level in order to forwardly think about diagnosis and treatment of lysosomal conditions. These Basic Science sessions are always innovative and present the latest findings in the field. Download the WORLDSymposium 2023 program (PDF 200KB).
Basic Science
Moderators: Brian Bigger, Lalitha Belur, and Michael Przybilla
Chester B. Whitley University of Minnesota Minneapolis, MN, United States
Welcome & Announcements Presentation of 2023 Roscoe O. Brady Award to William A. Gahl
William A. Gahl National Human Genome Research Institute Bethesda, MD United States
Roscoe O. Brady Award Presentation: Pursuing Advances in Rare and Undiagnosed Diseases
8:00 AM
Xiangli Zhao New York University Grossman School of Medicine New York, NY, United States
A brain penetrant progranulin-derived biologic protects against neuronopathic Gaucher disease *2023 Young Investigator Award Recipient
Yi Lin Cincinnati Children’s Hospital Medical Center Cincinnati, OH, United States
Earlier-onset, more severe neurodegeneration in PGRN KO mice with a decreased dose of D409V Gba1
Zhenting Zhang Cincinnati Children’s Hospital Medical Center Cincinnati, OH, United States
A multifaceted evaluation of microgliosis and differential cellular dysregulations of mTOR signaling with fluctuating lysosome function in neuronopathic Gaucher disease *2023 Young Investigator Award Recipient
Irene Serrano Gonzalo Fundación Española para el Estudio y Terapéutica de la Enfermedad de Gaucher y otras lisosomales Zaragoza, Spain
Study of miRNA expression profiles depending on the severity of bone involvement in patients with Gaucher disease
Moderated Q&A
Xiangli Zhao, Yi Lin, Zhenting Zhang, and Irene Serrano Gonzalo
9:00 AM
Maria Fuller SA Pathology North Adelaide, Australia
Signature biomarkers for diagnosis, screening, and biochemical monitoring of the mucopolysaccharidoses
Rebecca C. Ahrens-Nicklas The Children’s Hospital of Philadelphia Philadelphia, PA, United States
Biomarkers of disease severity in multiple sulfatase deficiency
Hannah Best Cardiff University Cardiff, United Kingdom
The Batten disease associated protein CLN3 is required for the efflux of lysosomal K+ *2023 Young Investigator Award Recipient
Tyler M. Pierson Cedars-Sinai Medical Center Los Angeles, CA, United States
Modeling CLN6 with IPSC-derived neurons and glia
Moderated Q&A
Maria Fuller, Rebecca C. Ahrens-Nicklas, Hannah Best, and Tyler M. Pierson
10:00 AM
Break
10:30 AM
Francyne Kubaski Greenwood Genetic Center Greenwood, SC, United States
Sensitivity and specificity of four lysosomal disorder biomarkers in dried blood spots
Neil Kasaci Lysosomal and Rare Disorders Research and Treatment Center Fairfax, VA, United States
Caspase inhibitors can counteract inflammasome activation and caspase-1 mediated fibrosis in Fabry disease *2023 Young Investigator Award Recipient
Saida Ortolano Galicia Sur Health Research Institute Vigo, Spain
PBXs: New pharmacological chaperones to increase α-galactosidase A activity in Fabry disease cellular models
Efecan Aral University of Massachusetts – Amherst Amherst, MA, United States
Establishing personalized medicine in Fabry disease through functional analysis of disease mutants
Moderated Q&A
Francyne Kubaski, Neil Kasaci, Saida Ortolano, and Efecan Aral
Behzad Najafian University of Washington Seattle, WA, United States
The spectrum of podocyte injury in later onset (LO) variants of Fabry disease (FD)
David Smerkous Oregon State University Corvallis, OR, United States
Development of an online cloud-based tool for automatic measurement of foot process width (FPW) using deep learning (DL): Applications in assessment of podocyte injury in Fabry disease (FD) *2023 Young Investigator Award Recipient
Alex J. Shamoun University of Florida Gainesville, FL, United States
Differences in organ abundance of iduronate 2-sulfatase and intravenous recombinant enzyme delivery: Potential implications for clinical response to ERT in MPS II
Marta Artola Leiden University Leiden, Netherlands
1,6-epi-cyclophellitol cyclosulfamidate is a new superior lysosomal α-glucosidase stabilizer for the treatment of Pompe disease
Moderated Q&A
Behzad Najafian, David Smerkous, Alex J. Shamoun, and Marta Artola
2:00 PM
Mahsa Taherzadeh McGill University Montreal, QC, Canada
Severe neuronal demyelination in Sanfilippo disease
Frederick Ashby University of Florida Gainesville, FL, United States
Bone pathology within Sanfilippo syndrome type B mice as a novel biometric for peripheral disease correction
Chloé Dias Université Toulouse III Paul Sabatier Toulouse, France
Microglia-derived extracellular vesicles promote neuropathology in Sanfilippo syndrome *2023 Young Investigator Award Recipient
Angela J. Espejo Pontificia Universidad Javeriana Bogotá D.C., Colombia
Magnetite nanoparticles as a vehicle to transport recombinant hexosaminidase A and B through an in vitro model of the blood-brain barrier
Moderated Q&A
Mahsa Taherzadeh, Frederick Ashby, Chloé Dias, and Angela J. Espejo
Anna-Maria Wiesinger Paracelsus Medical University Salzburg Salzburg, Austria
A precision medicine tool for high utilization and quality of individual treatment trials with immunomodulatory drugs in mucopolysaccharidosis *2023 Young Investigator Award Recipient
Barbara K. Burton Northwestern University Feinberg School of Medicine Chicago, IL, United States
Newborn screening for mucopolysaccharidosis type II
Stuart M. Ellison University of Manchester Manchester, United Kingdom
Validation of a GMP stem cell gene therapy manufacturing process for mucopolysaccharidosis type II (MPS II) in preparation for an approved phase I/II clinical trial
Anna Luzzi The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center Torrance, CA, United States
Decreased regulatory T-cells in patients with Sanfilippo syndrome may allow the development of autoimmune disease
Moderated Q&A
Anna-Maria Wiesinger, Barbara K. Burton, Stuart M. Ellison, and Anna Luzzi
9:00 AM
Kim M. Hemsley Flinders University Bedford Park, Australia
A prohibitin-targeting drug modifies aspects of disease in a mouse model of Sanfilippo syndrome
Simon Jones St. Mary’s Hospital Manchester, United Kingdom
Sustained biochemical engraftment and early clinical outcomes following ex-vivo autologous stem cell gene therapy for mucopolysaccharidosis type IIIA
Oriana Mandolfo University of Manchester Manchester, United Kingdom
Developing an iPSC-based neural gene therapy approach for MPS IIIA
Nissrine Ballout Université Toulouse III Paul Sabatier Toulouse, France
Development and validation of a novel adeno-associated viral gene therapy for mucopolysaccharidosis type IIIB (MPS IIIB) *2023 Young Investigator Award Recipient
Moderated Q&A
Kim M. Hemsley, Simon Jones, Oriana Mandolfo, and Nissrine Ballout
Leigh Fremuth St. Jude Children’s Research Hospital Memphis, TN, United States
AAV-mediated gene therapy for galactosialidosis: A long-term safety and efficacy study
Sandra Vranic University of Manchester Manchester, United Kingdom
Defect-free graphene enhances enzyme delivery to fibroblasts derived from the patients with lysosomal disorders
Paul J. Orchard University of Minnesota Minneapolis, MN, United States
Compassionate use of OTL-200 for patients with metachromatic leukodystrophy
Laura A. Adang Children’s Hospital of Philadelphia Philadelphia, PA, United States
Developmental delay can precede neurologic regression in metachromatic leukodystrophy
Moderated Q&A
Leigh Fremuth, Sandra Vranic, Paul J. Orchard, and Laura A. Adang
2:00 PM
Lars Schlotawa University Medical Center Goettingen Goettingen, Germany
Screening of approved drugs identifies 3rd generation retinoids as in vitro therapeutic agents in multiple sulfatase deficiency
Aimee Donald University of Manchester Manchester, United Kingdom
Sustained improvement of clinical CNS and somatic features of Gaucher disease type 3 after haematopoietic stem cell (HSC) gene therapy: A first-in-world report
Andreas Hahn University Hospital Giessen Giessen, Germany
Treatment of CLN1 disease with a blood-brain barrier penetrating lysosomal enzyme AGT-194
Jason A. Weesner St. Jude Children’s Research Hospital Memphis, TN, United States
Preclinical enzyme replacement therapy with a recombinant β-galactosidase-lectin fusion for CNS delivery and treatment of GM1-gangliosidosis *2023 Young Investigator Award Recipient
Moderated Q&A
Lars Schlotawa, Aimee Donald, Andreas Hahn, and Jason A. Weesner
Friday began with a keynote address from Dr. Peter Marks: “Taking Gene Therapy to the Next Level.” Following Dr. Marks’s address, the presentations shifted to Clinical Applications, including abstracts on Clinical Trials for Registration. Abstracts presented in this category had a US FDA Investigational New Drug (IND) application for a phase I-III clinical trial or hold an EMA Investigational Medicinal Product Dossier (IMPD) or equivalent. Clinical Outcomes abstracts also were presented. Download the WORLDSymposium 2023 program (PDF 200KB).
Clinical Applications
Moderators: Lynda Polgreen, Marc Patterson, and Filippo Vairo
Peter Marks Center for Biologics Evaluation and Research US Food & Drug Administration (FDA) Silver Spring, MD, United States
Keynote Address: Taking Gene Therapy to the Next Level
8:00 AM
Francesca Fumagalli San Raffaele Telethon Institute for Gene Therapy, IRCCS San Raffaele Scientific Institute Milan, Italy
Long-term clinical outcomes of atidarsagene autotemcel (autologous hematopoietic stem cell gene therapy [HSC-GT] for metachromatic leukodystrophy) with up to 11 years follow-up
Maria Jose de Castro Lopez Hospital Clínico Universitario de Santiago de Compostela Santiago, Spain
Twice weekly dosing with sebelipase alfa rescues severely ill infants with Wolman disease
Robert J. Hopkin Cincinnati Children’s Hospital Medical Center Cincinnati, OH, United States
STAAR, a phase I/II study of isaralgagene civaparvovec (ST-920) gene therapy in adults with Fabry disease: Dose escalation phase results
Valeria Calbi San Raffaele Telethon Institute for Gene Therapy, IRCCS San Raffaele Scientific Institute Milan, Italy
Lentiviral haematopoietic stem cell gene therapy for metachromatic leukodystrophy: Results in 5 patients treated under nominal compassionate use
Moderated Q&A
Francesca Fumagalli, Maria Jose de Castro Lopez, Robert J. Hopkin, and Valeria Calbi
9:00 AM
Joseph Muenzer University of North Carolina Chapel Hill Chapel Hill, NC, United States
Interim analysis of key clinical outcomes from a phase 1/2 study of weekly intravenous DNL310 (brain-penetrant enzyme replacement therapy) in MPS II
Paul Harmatz UCSF Benioff Children’s Hospital Oakland Oakland, CA, United States
Interim results of a phase 1/2 study of JR-171 (lepunafusp alfa), a novel brain-penetrant enzyme replacement therapy for MPS I
Raymond Y. Wang CHOC Children’s Specialists Orange, CA, United States
RGX-111 gene therapy for the treatment of severe mucopolysaccharidosis type I (MPS I): Interim analysis of data from the first in human study
Cara O’Neill Cure Sanfilippo Foundation Columbia, SC, United States
Development of consensus guidelines for the clinical care of individuals with Sanfilippo syndrome
Moderated Q&A
Joseph Muenzer, Paul Harmatz, Raymond Y. Wang, and Cara O’Neill
Barry J. Byrne University of Florida Gainesville, FL, United States
Long-term follow-up of cipaglucosidase alfa/miglustat in ambulatory patients with Pompe disease: An open-label phase I/II study (ATB200-02)
Erin Huggins Duke University Durham, NC, United States
Longitudinal follow up uncovers an early emerging phenotype in children with late-onset Pompe disease diagnosed via newborn screening
Priya S. Kishnani Duke University Medical Center Durham Durham, NC, United States
Efficacy and safety of avalglucosidase alfa in participants with late-onset Pompe disease after 145 weeks of treatment during the COMET trial
Jordi Diaz Manera Newcastle University Newcastle Upon Tyne, United Kingdom
AT845 gene replacement therapy for late onset Pompe disease: An update on safety and preliminary efficacy data from FORTIS, a phase I/II open-label clinical study
Moderated Q&A
Barry J. Byrne, Erin Huggins, Priya S. Kishnani, and Jordi Diaz Manera
Eric Wallace University of Alabama Birmingham, AL, United States
First results of a head-to-head trial of pegunigalsidase alfa vs. agalsidase beta in Fabry disease: 2 year results of the phase 3 randomized, double-blind, BALANCE study
John Bernat University of Iowa Hospitals and Clinics Iowa City, IA, United States
Long-term safety and efficacy of pegunigalsidase alfa administered every 4 weeks in patients with Fabry disease: Two-year interim results from the ongoing phase 3 BRIGHT51 open-label extension study
Melissa P. Wasserstein Albert Einstein College of Medicine/Children’s Hospital at Montefiore Bronx, NY, United States
Plasma lyso-sphingomyelin as a biomarker for acid sphingomyelinase deficiency: Correlations with baseline disease and response to olipudase alfa treatment in clinical trials
Roberto Giugliani Federal University of Rio Grande do Sul Porto Alegre, RS, Brazil
Long-term catch-up growth in children with acid sphingomyelinase deficiency treated with olipudase alfa enzyme replacement therapy in the ASCEND-Peds trial
Moderated Q&A
Eric Wallace, John Bernat, Melissa P. Wasserstein, Roberto Giugliani
2:00 PM
Pramod K. Mistry Yale University School of Medicine New Haven, CT, United States
Changes in hematologic and visceral manifestations over time following imiglucerase initiation in Gaucher disease type 1 and type 3 pediatric patients in the ICGG Gaucher Registry
Jeanine R. Jarnes University of Minnesota Minneapolis, MN, United States
Updated interim safety, biomarker, and efficacy data from Imagine-1: A phase 1/2 open-label, multicenter study to assess the safety, tolerability, and efficacy of a single dose, intra-cisterna magna (ICM) administration of PBGM01 in subjects with type I (early onset) and type IIA (late onset) infantile GM1 gangliosidosis (GM1)
Yoshikatsu Eto Institute of Neurological Disease Kawasaki City, Japan
Real-world data of enzyme replacement therapy with pabinafusp alfa for neuronopathic MPS-II: Updated clinical data from Japan
David L. Rogers Nationwide Children’s Hospital Columbus, OH, United States
Intravitreal enzyme replacement therapy to prevent retinal disease progression in children with neuronal ceroid lipofuscinosis type 2 (CLN2): Interim safety report
Moderated Q&A
Pramod K. Mistry, Jeanine R. Jarnes, Yoshikatsu Eto, and David L. Rogers
The fourth research day of the meeting began with the New Treatment Award. Then, for the fourth year, the Contemporary Forum allowed for presentation of scientific abstracts — Basic, Translational, and Clinical — submitted by industry first-author researchers. Although the first three days of WORLDSymposium were accredited and approved for CME credit, Commercial Interests were not eligible for ACCME accreditation. The Contemporary Forum allowed commercial interests to present their work to the WORLDSymposium audience, in that non-CME session, while being held to all the same standards as the ACCME accredited sessions and scored for merit and interest by the same Program Committee. Download the WORLDSymposium 2023 program (PDF 200KB).
Contemporary Forum
Moderators: Nishitha Pillai, Dan Tagle, and Ellen Sidransky
Shababa T. Masoud Denali Therapeutics South San Francisco, CA, United States
ETV:SGSH, a brain-penetrant enzyme transport vehicle for SGSH, corrects heparan sulfate accumulation, lysosomal lipid storage and inflammation in MPS IIIA mouse brain
Asuka Inoue JCR Pharmaceuticals Co., Ltd. Kobe, Japan
Nonclinical pharmacodynamics, pharmacokinetics and safety profiles of anti-human transferrin receptor antibody-fused N-sulfoglucosamine sulfohydrolase for mucopolysaccharidosis type IIIA
Andrew Hedman M6P Therapeutics St. Louis, MO, United States
Novel dual promoter AAV gene therapy platform ensures production of therapeutic soluble lysosomal enzymes with high M6P content to enable broad cellular uptake and cross correction in vivo
Charu Reddy Codexis San Carlos, CA, United States
An engineered β-galactosidase with improved stability and cross-correction for the potential treatment of GM1 gangliosidosis via AAV gene therapy
Moderated Q&A
Shababa T. Masoud, Asuka Inoue, Andrew Hedman, and Charu Reddy
9:00 AM
Stephanie Cherqui University of California San Diego La Jolla, CA, United States
Phase 1/2 clinical trial of autologous hematopoietic stem and progenitor cell (HSPC) gene therapy for cystinosis
Shyam Ramachandran Sanofi Waltham, MA, United States
AAV-ARSA-mediated gene replacement for the treatment of metachromatic leukodystrophy
Mathews Adera AVROBIO, Inc. Cambridge, MA, United States
The Guard1 clinical trial – A first in-human, phase 1/2 study evaluating AVR-RD-02, a hematopoietic stem cell (HSC) gene therapy for Gaucher disease: Preliminary safety, pharmacodynamic and clinical efficacy results from the subjects observed for up to 24 months post-infusion
Maria L. Escolar Forge Biologics Grove City, OH, United States
First-in-human phase 1/2 trial of intravenous FBX-101 following hematopoietic stem cell transplantation increases GALC activity, supports brain development, and improves motor function in patients with infantile Krabbe disease: RESKUE clinical trial
Moderated Q&A
Stephanie Cherqui, Shyam Ramachandran, Mathews Adera, and Maria L. Escolar
Raphael Schiffmann 4D Molecular Therapeutics Emeryville, CA, United States
Cardiac effects of 4D-310 in adults with Fabry disease in a phase 1/2 clinical trial: Functional, quality of life, and imaging endpoints in patients with 12 months of follow up
Russell Gotschall M6P Therapeutics St. Louis, MO, United States
M021: rhGAA with optimal glycosylation profile containing very high levels of bis-phosphorylated N-glycans clears accumulated glycogen and rapidly normalizes muscle strength in treated Pompe disease mice
Ana C. Puhl Collaborations Pharmaceuticals, Inc. Raleigh, NC, United States
Developing treatments for rare diseases on a shoestring: The Batten disease (CLN1) enzyme replacement therapy experience
Michael H. Gelb University of Washington Seattle, WA, United States
A glimpse into the feasibility of next generation sequencing for newborn screening of lysosomal and other diseases with second-tier biochemical assays as part of the screening process
Moderated Q&A
Raphael Schiffmann, Russell Gotschall, Ana C. Puhl, and Michael H. Gelb
Toward bringing the most recent research to the platform of WORLDSymposium 2023, after the late-breaking abstract submissions closed on December 1, 2022, selected late-breaking abstracts were identified by the Program Committee as being suitable for platform presentation. In order to provide access to the “hot-off-the-presses” content from these researchers, late-breaking abstracts were reviewed and scored, and the top-scoring abstracts were selected for presentation during the 2023 meeting. Download the WORLDSymposium 2023 program (PDF 200KB).
Late-Breaking Science
Moderators: Elizabeth Braunlin, Roberto Giugliani, and Rebecca Ahrens-Nicklas
8:00 AM
Li Ou Genemagic Bio Agoura Hills, CA, United States
A meta-analysis of 39 AAV clinical trials for lysosomal diseases: Immunogenicity, toxicity, and durability
Lucas Tricoli Children’s Hospital of Philadelphia Philadelphia, PA, United States
Improved gene therapy for metachromatic leukodystrophy
Andrés Felipe Leal Pontificia Universidad Javeriana Bogotá D.C., Colombia
Assessment of an iron oxide-coupled CRISPR/nCas9 gene editing in mucopolysaccharidoses type IVA mouse model
Chester B. Whitley University of Minnesota Minneapolis, MN, United States
The PS Gene-editing (PSG) System for treatment of lysosomal diseases
Moderated Q&A
Li Ou, Lucas Tricoli, Andres Leal, and Chester B. Whitley
9:00 AM
Can Ficicioglu The Children’s Hospital of Philadelphia Philadelphia, PA, United States
RGX-121 gene therapy for the treatment of neuronopathic mucopolysaccharidosis type II (MPS II): interim analysis of data from the first in human study
Kelly George Sanofi Cambridge, MA, United States
Anti-mouse-TfR-GAA fusion proteins for the treatment of Pompe disease targeting the central nervous system and peripheral tissues
Julie C. Ullman Maze Therapeutics South San Francisco, CA, United States
Results from a first in human study of MZE001, an orally bioavailable inhibitor of glycogen synthase 1 and potential substrate reduction therapy for Pompe disease
Benedikt Schoser Ludwig-Maximilians-Universität München Munich, Germany
Long-term efficacy and safety of cipaglucosidase alfa/miglustat in ambulatory patients with Pompe disease: A phase III open-label extension study (ATB200-07)
Moderated Q&A
Can Ficicioglu, Kelly George, Julie C. Ullman, and Benedikt Schoser
10:00 AM
Break
10:15 AM
Xiomara Rosales Neurogene Inc. New York, NY, United States
Evidence from a study of CLN5 -/- sheep supporting dose escalation in an ongoing clinical trial of NGN-101 in pediatric patients with CLN5 Batten disease
Patricia I. Dickson Washington University in St. Louis Saint Louis, MO, United States
Intraventricular recombinant human N-acetylglucosamine-6-sulfatase corrects lysosomal storage in mucopolysaccharidosis type IIID mice
Eric H. Zanelli Allievex Corporation Boston, MA, United States
Tralesinidase alfa modifies the course of Sanfilippo syndrome type B
Akos Herzeg Center for Maternal-Fetal Precision Medicine, UCSF San Francisco, CA, United States
A phase 1 clinical trial of in utero enzyme replacement therapy for lysosomal disorders: Interim results
Moderated Q&A
Xiomara Rosales, Patricia I. Dickson, Eric H. Zanelli, and Akos Herzeg
11:15 AM
WORLDSymposium 2023 Adjourns
2023 DIAMOND EXHIBITORS
Amicus Therapeutics
Amicus Therapeutics is a global, patient-dedicated biotechnology company focused on discovering, developing and delivering novel high-quality medicines for people living with rare metabolic diseases. With extraordinary patient focus, Amicus Therapeutics is committed to advancing and expanding a robust pipeline of cutting-edge medicines for rare metabolic diseases.
Sanofi
We are an innovative global healthcare company, driven by one purpose: we chase the miracles of science to improve people’s lives. Our team, across some 100 countries, is dedicated to transforming the practice of medicine by working to turn the impossible into the possible. We provide potentially life-changing treatment options and life-saving vaccine protection to millions of people globally, while putting sustainability and social responsibility at the center of our ambitions.
Takeda Pharmaceutical Company Limited
Takeda is a patient-focused, values-based, R&D-driven global biopharmaceutical company; our passion and pursuit of potentially life-changing treatments are rooted in our history. We know patients with rare diseases have spent their lives overcoming challenges. That’s why for 70+ years we’ve been working to support them in their fight.
2023 PLATINUM EXHIBITORS
Chiesi Global Rare Diseases
Chiesi Global Rare Diseases is a business unit of the Chiesi Group established in February 2020 and focuses on research and development of treatments for rare and ultra-rare disorders. The unit is also a dedicated partner with global leaders to patient advocacy, research and patient care.
JCR Pharmaceuticals Co., Ltd.
JCR Pharmaceuticals Co., Ltd. (TSE 4552) is a global specialty pharmaceuticals company that is redefining expectations and expanding possibilities for people with rare and genetic diseases worldwide. We continue to build upon our 47-year legacy in Japan while expanding our global footprint into the US, Europe, and Latin America. We improve patients’ lives by leveraging our expertise in manufacturing and R&D to advance medicine. Our core values – reliability, confidence, and persistence – benefit all our stakeholders, including employees, partners, and patients. Together we soar.
2023 GOLD EXHIBITORS
4D Molecular Therapeutics (4DMT)
4DMT is a genetic medicines company with a transformative discovery platform—Therapeutic Vector Evolution—that enables our “disease first” approach to product discovery and development, thereby allowing us to customize our AAV vectors to target specific tissue types associated with the underlying disease.
Astellas Gene Therapies
Astellas Gene Therapies is an Astellas Center of Excellence developing genetic medicines with the potential to deliver transformative value for patients. Based on an innovative scientific approach and industry leading internal manufacturing capability and expertise, we are currently exploring various gene therapy modalities, including gene replacement. We are based in San Francisco, California with manufacturing and laboratory facilities in South San Francisco, California and Sanford, North Carolina.
BioMarin Pharmaceutical
BioMarin is a world leader in developing and commercializing innovative therapies for rare diseases driven by genetic causes. With a 20+ year history, BioMarin remains steadfast to its original mission—to bring new treatments to market that will make a big impact on small patient populations. Visit www.biomarin.com to learn more.
Orchard Therapeutics
At Orchard Therapeutics, our vision is to end the devastation caused by genetic and other severe diseases. We aim to do this by discovering, developing and commercializing new treatments that tap into the curative potential of hematopoietic stem cell (HSC) gene therapy.
Passage Bio
Passage Bio (Nasdaq: PASG) is a clinical-stage genetic medicines company on a mission to provide life-transforming therapies for patients with CNS diseases with limited or no approved treatment options. Our portfolio spans pediatric and adult CNS indications, and we are currently advancing clinical programs in GM1 gangliosidosis and frontotemporal dementia and our preclinical pipeline, including programs in amyotrophic lateral sclerosis and Huntington’s disease.
Ultragenyx
Ultragenyx is a biopharmaceutical company committed to bringing novel therapies to patients for the treatment of serious rare and ultra-rare genetic diseases. The company has built a diverse portfolio of approved medicines and treatment candidates aimed at addressing diseases with high unmet medical need and clear biology, for which there are typically no approved therapies treating the underlying disease.
2023 EXHIBITORS
Aeglea BioTherapeutics
Aeglea specializes in rare metabolic disorders, developing novel medicines to bring better balance to the lives of patients and families battling these devastating diseases.
ARCHIMEDlife
ARCHIMEDlife is an innovative and dynamic Medical Laboratory providing high quality, specialized diagnostic services for Rare Diseases, located in Vienna, Austria. The company is committed to helping physicians and their patients avoid diagnostic odysseys by delivering leading-edge, rapid services. More than 20,000 physicians in 80 countries have trusted in ARCHIMEDlife.
Azafaros
Azafaros is a clinical-stage biotech start-up, founded in 2018 by experienced industry professionals and scientists. We aspire to address rare genetic lysosomal storage disorders through a pipeline of oral small molecules with disease-modifying capability. Based on discoveries from Leiden University and Amsterdam University Medical Center in the Netherlands, Azafaros’ initial objective is to develop a potential disease-modifying therapy for GM1 and GM2 gangliosidoses and Niemann Pick C.
Denali Therapeutics
Denali is a biotechnology company developing drug candidates engineered to cross the blood-brain barrier (BBB) for neurodegenerative diseases. Our scientific strategy is guided by three overarching principles: 1) genetic pathway potential; 2) engineering brain delivery; and 3) biomarker-driven clinical development. We are committed to advancing new potential treatments for lysosomal disorders that affect the brain, starting with DNL310, our investigational IV enzyme replacement therapy for Hunter syndrome (MPS II).
Freeline Therapeutics
Freeline Therapeutics is a clinical-stage biotechnology company developing transformative gene therapies for people with inherited systemic debilitating diseases.
Greenwood Genetic Center
The Greenwood Genetic Center is a nonprofit institute organized to provide clinical genetic services, diagnostic laboratory testing, educational programs and resources, and research in the field of medical genetics.
Homology Medicines, Inc.
Homology Medicines, Inc. is a clinical-stage genetic medicines company dedicated to transforming the lives of patients suffering from rare diseases by addressing the underlying cause of the disease. Homology believes its initial clinical data and compelling preclinical data, scientific and product development expertise and broad intellectual property position the Company as a leader in genetic medicines.
Horizon Therapeutics
Horizon is a global biotechnology company focused on the discovery, development and commercialization of medicines that address critical needs for people impacted by rare, autoimmune and severe inflammatory diseases. Our pipeline is purposeful: We apply scientific expertise and courage to bring clinically meaningful therapies to patients. We believe science and compassion must work together to transform lives.
Immusoft Corporation
Immusoft is developing a cutting-edge approach to the sustained delivery of protein therapeutics using a patient’s own cells. The approach is called Immune System Programming (ISP™). ISP entails collecting a type of the patient’s immune cells, called B cells. In response to immune stimulation, B cells can turn into a biofactory state known as a plasma cell.
Inozyme
Inozyme Pharma is a global leader in developing therapies for rare mineralization disorders.
KemPharm Inc
KemPharm is a biotechnology company focused on the discovery, development and commercialization of novel treatments for rare diseases. KemPharm has a diverse product portfolio, combining a clinical-stage development pipeline with NDA-stage and commercial assets.
Lysosomal & Rare Disorders Research & Treatment Center, Inc
LDRTC uses the latest research to unravel underlying disease-causing mechanisms, discover new biomarkers, and explore new therapeutic pathways and treatment options for persons suffering from lysosomal and other rare diseases.
Protalix Ltd
Protalix, a biopharmaceutical company focused on development, production and commercialization of recombinant therapeutic proteins produced by our proprietary ProCellEx® plant cell-based protein expression system. Protalix developed taliglucerase alfa for treatment of Gaucher disease. The most advanced investigational drug in our pipeline is pegunigalsidase alfa, candidate for treatment of Fabry disease.
QPS LLC
QPS is an award winning global CRO providing discovery, preclinical and clinical drug development services since 1995. Our mission is to accelerate pharmaceutical breakthroughs across the globe by delivering custom-built research services in Toxicology, DMPK, Neuropharmacology, Preclinical and Clinical Drug Development. QPS is known for quality, standards & technical expertise.
Recordati Rare Diseases
At Recordati Rare Diseases, we focus on the few – those affected by rare diseases. They are our top priority and at the core of everything we do.
REGENXBIO Inc.
REGENXBIO Inc. is a leading clinical-stage biotechnology company seeking to improve lives through the curative potential of gene therapy using our NAV® Technology Platform. Our gene therapy product candidates are designed to deliver functional genes, enabling the production of therapeutic proteins or antibodies that are intended to impact disease.
Travere Therapeutics
Travere Therapeutics is a biopharmaceutical company dedicated to identifying, developing and delivering life-changing therapies to people living with rare disease.
Worldwide Clinical Trials
Worldwide Clinical Trials is a global, midsize CRO that provides top-performing bioanalytical and Phase I-IV clinical development services to the biotechnology and pharmaceutical industries. Our full-service clinical experience ranges from early phase and bioanalytical sciences through late phase studies, post approval, and real-world evidence.
2023 PATIENT ADVOCATE SHOWCASE
Associação Sanfilippo Portugal
The Sanfilippo Association Portugal (ASFP) is a non-profit organization dedicated to encourage and support research programs in Sanfilippo syndrome (MPS III) leading to the implementation of future therapeutics and to disclose appropriate information related to the disease.
Cure GM1 Foundation
The CURE GM1 FOUNDATION’s mission is to fund research for the benefit of all those who suffer from GM1 gangliosidosis. This nonprofit organization was founded by parents of children who suffer from GM1 who seek to save the lives of all those who suffer from this wretched condition. The Cure GM1 Foundation is dedicated to directly funding research for a cure for GM1 gangliosidosis – a lysosomal storage disease that attacks the brain and spinal cord. Over 50% of those impacted die before their fifth birthday. GM1 is a progressive and degenerative condition with an extremely broad and debilitating array of symptoms and complications.
Cure Sanfilippo Foundation
Cure Sanfilippo Foundation is a 501c3 nonprofit with a mission to advocate for and fund research directed toward a cure or treatment options for children with Sanfilippo syndrome.
Gaucher Community Alliance
The Gaucher Community Alliance is a peer-to-peer patient support organization for those affected with neuronopathic and non-neuronopathic Gaucher disease to help them live their fullest lives possible. We support patients and families through peer-to-peer networking, support and education; government and legislative advocacy; and patient and family resources.
International Gaucher Alliance
We are a global patient umbrella organization (registered charity) representing the Global Gaucher patient community.
Living in the Light of Rare Diseases
Living in the Light™ is a patient advocacy initiative producing unique and engaging photo, video and written content that educates the biotech industry and medical communities about the realities of rare and chronic diseases, and the profound effect they have on families and daily life. At Living in the Light, we are driven by our mission: empowering families and individuals affected by rare and chronic diseases to be seen and heard as they relay their stories and advocate for their needs.
MLD Foundation
MLD Foundation is the oldest and most experienced advocacy group dealing with Metachromatic Leukodystrophy. Our mission is we C.A.R.E. – facilitating Compassion and support for those affected with MLD, increasing Awareness of MLD, influencing Research, and promoting Education. Our current main focuses beyond helping and supporting newly diagnosed families and others on the MLD journey are applying to the Recommended Unified Screening Panel (RUSP) to make MLD newborn screening a given in all the states and working on access and reimbursement for rare diseases especially gene therapies.
National MPS Society
The National MPS Society exists to find cures for MPS and ML. We provide hope and support for affected individuals and their families through research, advocacy and awareness of these devastating diseases.
National Organization for Rare Disorders
NORD’s mission is to drive public policy, accelerate research and improve care for people living with rare diseases.
National Tay-Sachs & Allied Diseases Assoc. (NTSAD)
National Tay-Sachs & Allied Diseases Association (NTSAD) leads the worldwide fight to treat and cure Tay-Sachs, Canavan, GM1, and Sandhoff diseases by driving research, forging collaboration, and fostering community. Supporting families is the center of everything we do.
Pompe Support Network
We are run by, and for, members of the Pompe community. As members of the UK LSD Collaborative and the International Pompe Association, we Influence research into safe, effective and affordable therapies, advocate for access to therapies and medical devices, share experiences and projects to improve physical and mental wellbeing.
WORLDSymposium 2023 Poster Sessions
In 2023, over 450 scientific abstracts were presented at eight separate poster sessions. These sessions are an excellent opportunity to see, hear and discuss specific research topics directly with the abstract authors. Although the ePoster content was available to registered attendees throughout WORLDSymposium 2023 via the Mobile App, the opportunity for live Q&A with the presenters is limited to their the assigned live poster sessions.
All abstracts received by the October 1, 2022 deadline were considered for platform presentation and inclusion in the special lysosomes issue of Molecular Genetics and Metabolism (MGM) which were published in February 2023. Poster notifications and assigned poster numbers were sent to the first author of the submitted abstract in early January 2023.
The late-breaking abstract submission site closed on December 1, 2022. Due to publication deadlines, late-breaking abstracts are published in the program materials, and are not published in Molecular Genetics and Metabolism (MGM).
Registered attendees had access to an electronic copy of the program and abstracts via the WORLDSymposium 2023 mobile app. Registered attendees logged into the mobile app using the code they received with their invitation to the mobile app. The program and abstracts are copyrighted and were available to non-registrants through Elsevier.
It is the policy of WORLDSymposium to publish all abstracts with the list of authors exactly as the abstract was submitted to WORLDSymposium. The first author of the submitted abstract were listed as the presenting author on the Preliminary Program, Agenda, and Poster List.
2023: Posters were divided into eight (8) Separate Sessions
The poster sessions provide an excellent opportunity to discuss concepts, share knowledge, and exchange ideas with abstract authors and other WORLDSymposium participants. Authors who accepted a poster presentation were assigned to present their abstract during one of eight Live (in-person) sessions in the Exhibit Hall, based on the final abstract category for each abstract. Poster presenters are required to be in attendance at their poster for their assigned timeframe.
In addition, all poster presenters are required to submit an electronic version of their poster to be available to attendees throughout WORLDSymposium 2023. Details on ePoster submission were sent to all first authors approximately one month prior to the start of WORLDSymposium 2023.
All registered attendees had access to the ePosters beginning at 3:00 PM EST on Wednesday, February 22, 2023. The ePosters were displayed on electronic kiosks in the Exhibit Hall, during Exhibit hours at WORLDSymposium and remained available throughout WORLDSymposium 2023 and on demand until March 14, 2024.
All ePosters will be in the Exhibit Hall in the Orlando Ballroom:
Basic Science Abstracts were presented on Wednesday, February 22 from 3:00-5:00 PM EST
Translational Research Abstracts were presented on Thursday, February 23 from 3:00-5:00 PM EST
Clinical Applications Abstracts were presented on Friday, February 24 from 3:00-5:00 PM EST
Contemporary Forum Abstracts were presented on Saturday, February 25 from 3:00-5:00 PM EST
Basic Science
Poster Session I
Wednesday, February 22
3:00-4:00 PM
Basic Science
Poster Session II
Wednesday, February 22
4:00-5:00 PM
Translational Research
Poster Session III
Thursday, February 23
3:00-4:00 PM
Translational Research
Poster Session IV
Thursday, February 23
4:00-5:00 PM
Clinical Applications
Poster Session V
Friday, February 24
3:00-4:00 PM
Clinical Applications
Poster Session VI
Friday, February 24
4:00-5:00 PM
Contemporary Forum
Poster Session VII
Saturday, February 25
3:00-4:00 PM
Contemporary Forum
Poster Session VIII
Saturday, February 25
4:00-5:00 PM
Any poster numbers not listed were not presented as the author was unable to attend the conference.
2023 Satellite Symposia Schedule
Wednesday, February 22, 2023, 6:15 AM – 7:15 AM Exploring Next-generation Therapies to Mitigate Disease Progression in Pompe Disease CE Satellite Symposium Accredited provider: AKH Inc., Advancing Knowledge in Healthcare Jointly provided by AKH Inc., Advancing Knowledge in Healthcare and Catalyst Medical Education, LLC Supported by an independent educational grant from Amicus Therapeutics, Inc. Click Here to Download Informational PDF
Wednesday, February 22, 2023, 6:15 AM – 7:15 AM eDiagnosis: Innovations to Shorten the Rare Disease Diagnostic Journey Sponsored by Sanofi Click Here to Download Informational PDF
Wednesday, February 22, 2023, 11:45 AM – 12:45 PM From Assay to Application: Writing the roadmap for metachromatic leukodystrophy newborn screening Sponsored by Orchard Therapeutics Click Here to Download Informational PDF
Wednesday, February 22, 2023, 11:45 AM – 12:45 PM First for Fabry Disease: 20-years of Clinical and Real-World Evidence Sponsored by Sanofi Click Here to Download Informational PDF
Thursday, February 23, 2023, 6:15 AM – 7:15 AM A treatment option for non-CNS manifestations of acid sphingomyelinase deficiency (ASMD): Patient and HCP perspectives on the transforming ASMD landscape Sponsored by Sanofi Click Here to Download Informational PDF
Thursday, February 23, 2023, 6:15 AM – 7:15 AM Manifestations of Gaucher Disease: Rare or Under-recognized? CE Satellite Symposium Accredited provider: CME Outfitters, LLC Supported by an educational grant from Takeda Pharmaceuticals USA, Inc. Click Here to Download Informational PDF
Thursday, February 23, 2023, 11:45 AM – 12:45 PM The Next Step Forward: Real World Experience in Patients with Late-Onset Pompe Disease Sponsored by Sanofi Click Here to Download Informational PDF
Thursday, February 23, 2023, 11:45 AM – 12:45 PM Defining Patient-Focused Outcomes in Fabry Disease Sponsored by Amicus Therapeutics, Inc. Click Here to Download Informational PDF
Thursday, February 23, 2023, 5:15 PM – 6:15 PM Understanding Phenotypic Variability in Lysosomal Diseases – Gaining a Foothold in Precision Medicine Sponsored by Takeda Pharmaceutical Company Limited Click Here to Download Informational PDF
Friday, February 24, 2023, 6:15 AM – 7:15 AM Following a path to multisystemic efficacy in Fabry disease Sponsored by Amicus Therapeutics, Inc. This satellite is open only to registered attendees from outside the United States. International participants only. Click Here to Download Informational PDF
Friday, February 24, 2023, 6:15 AM – 7:15 AM Uncovering the neurologic impact of enzyme deficiencies along the glycosphingolipid pathway: A case-based discussion Sponsored by Sanofi Click Here to Download Informational PDF
Friday, February 24, 2023, 11:45 AM – 12:45 PM Challenges in delivering ERT in lysosomal disorders: Special considerations in LOPD Sponsored by Amicus Therapeutics, Inc. Click Here to Download Informational PDF
Friday, February 24, 2023, 11:45 AM – 12:45 PM AAV Gene Therapy as a Potential Treatment Modality for Neuronopathic MPS II Sponsored by REGENXBIO Inc. Click Here to Download Informational PDF
Friday, February 24, 2023, 5:15 PM – 6:15 PM One size does not fit all: Monitoring and management of anti-drug antibodies in lysosomal diseases with a focus on Fabry disease Sponsored by Chiesi Global Rare Diseases Click Here to Download Informational PDF
Friday, February 24, 2023, 5:15 PM – 6:15 PM MPS IVA in adulthood: Recent findings from the largest global MPS IVA Registry Study Sponsored by BioMarin Pharmaceutical Inc. Click Here to Download Informational PDF
Saturday, February 25, 2023, 6:15 AM – 7:15 AM Identifying, Monitoring, and Addressing Risk Factors Impacting Long-term Cardiac, Renal, and Neurological Disease Progression and Clinical Outcomes for Patients with FabryDisease CE Satellite Symposium Accredited provider: Med Learning Group Supported by an independent educational grant from Sanofi. Click Here to Download Informational PDF
Saturday, February 25, 2023, 11:45 AM – 12:45 PM The Rare Disease Ecosystem: A multi-stakeholder perspective on collaboration Sponsored by Sanofi Click Here to Download Informational PDF
Saturday, February 25, 2023, 11:45 AM – 12:45 PM Pinpointing Alpha-Mannosidosis on the Map: Insights from the diagnostic odyssey of patients Sponsored by Chiesi Global Rare Diseases Click Here to Download Informational PDF
2023 WORLDSymposium Young Investigator Awards Announced
Neil Kasaci, David Smerkous, Roselena S. Schuh, Zhenting Zhang, Chester B. Whitley, Chloé Dias, Nissrine Ballout, Jason A. Weesner, Anna-Maria Wiesinger (Not pictured: Hannah Best, Xiangli Zhao)
Congratulations to the ten individuals selected to receive the 19th Annual WORLDSymposium Young Investigator Award. The award is a partial scholarship towards attendance at WORLDSymposium 2023. 75 investigators-in-training submitted an application for the award, and the review process was difficult due to the excellent caliber of all the applications. WORLDSymposium would like to congratulate all of the applicants for their hard work.
The following individuals received the 2023 WORLDSymposium Young Investigator Award at the 19th Annual Scientific Meeting on Tuesday, February 23, 2023 at 7:30 AM EST:
Nissrine Ballout, Université Toulouse III Paul Sabatier, Toulouse, France
Hannah Best, Cardiff University, Cardiff, United Kingdom
Chloé Dias, Université Toulouse III Paul Sabatier, Toulouse, France
Neil Kasaci, Lysosomal and Rare Disorders Research and Treatment Center, Fairfax, Virginia, United States
Roselena S. Schuh, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil
David Smerkous, Oregon State University, Corvallis, Oregon, United States
Jason A. Weesner, St. Jude Children’s Research Hospital, Memphis, Tennessee, United States
Anna-Maria Wiesinger, Paracelsus Medical University Salzburg, Salzburg, Austria
Zhenting Zhang, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio, United States
Xiangli Zhao, New York University Grossman School of Medicine, New York, New York, United States
Christine Waggoner Received 2023 Patient Advocate Leader (PAL) Award
Chester B. Whitley, Cara O’Neill, Christine Waggoner, Terri L. Klein, and Mark Dant
Congratulations to Christine Waggoner, the recipient of the WORLDSymposium 2023 Patient Advocate Leader (PAL) Award. After reviewing numerous nominations, and considering many amazing individuals, the WORLDSymposium 2023 Awards Committee has selected Christine as the recipient of the 2023 PAL Award. Christine founded the Cure GM1 Foundation in April 2015 in honor of her daughter Iris and all those affected by GM1 gangliosidosis. Christine’s work at Cure GM1 has involved a broad range, including animal models, biomarkers, gene therapy, enzyme replacement therapy, patient registries, patient reported outcomes, newborn screening and the first-ever GM1 caregiver preferences study.
Christine received a B.A. from Brown University where she studied Visual Art and Computer Science. The combination of studies in art and technology served as a basis for her career in computer graphics and 3D feature film animation. Christine holds 9 patents in computer graphics and has contributed to publications both pertaining to computer graphics and GM1 gangliosidosis. In 2017, Christine received the Sanofi TORCH award for outstanding patient advocacy. She is also the recipient of an award for Outstanding Supporting Visual Effects in a Motion Picture and she is a member of the Association of Computing Machinery.
The 2023 Patient Advocate Leader Award was presented at 7:30 AM EST on Thursday, February 23, 2023, at the 19th annual WORLDSymposium in Orlando, Florida.
WORLDSymposium™ 2023 Keynote Speaker
Peter Marks, MD, PhD Returned as Keynote Speaker on Friday, February 24, 2023
WORLDSymposium was excited to announce the return of Peter Marks, MD, PhD, as the 2023 Keynote Speaker. Dr. Marks gave presentations to the WORLDSymposium audience in 2020 and 2021, providing important updates on the FDA’s role in rare disease research, and he presented the 2023 Keynote Address on Friday, February 24, 2023.
Dr. Marks is the director of the Center for Biologics Evaluation and Research (CBER) at the U.S. Food and Drug Administration (FDA). The center is responsible for assuring the safety and effectiveness of biological products, including vaccines, allergenic products, blood and blood products, and cellular, tissue, and gene therapies. Dr. Marks and center staff are committed to facilitating the development of biological products and providing oversight throughout the product life cycle.
Dr. Marks received his graduate degree in cell and molecular biology and his medical degree at New York University. Following this, he completed an Internal Medicine residency and Hematology/Medical Oncology fellowship at Brigham and Women’s Hospital in Boston, where he subsequently joined the attending staff as a clinician-scientist and eventually served as Clinical Director of Hematology.
He then moved on to work for several years in the pharmaceutical industry on the clinical development of hematology and oncology products prior to returning to academic medicine at Yale University where he led the Adult Leukemia Service and served as Chief Clinical Officer of Smilow Cancer Hospital. He joined the FDA in 2012 as Deputy Center Director for CBER and became Center Director in 2016. Dr. Marks is board certified in internal medicine, hematology and medical oncology, and is a Fellow of the American College of Physicians.
Dr. Marks is a renowned speaker and expert in numerous areas, including the current issues facing gene therapy research not only in the United States, but also from a global perspective. In addition, in his role at the FDA, he is integrally involved in the development and approval process for COVID-19 vaccines. In 2022, he became a Member of the National Academy of Medicine, one of the highest honors in the fields of health, science and medicine.
No one wanted to miss Dr. Marks’ Keynote Address: Taking Gene Therapy to the Next Level, on Friday, February 24, 2023 at 7:30 AM EST, at the 19th Annual WORLDSymposium in Orlando, Florida.
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