2015 New Treatment Awards

Each year, WORLDSymposia recognizes important achievements in therapy for lysosomal diseases. In 2015, several new treatments were recognized for achieving regulatory approval, and received the WORLDSymposium New Treatment Award:

Cerdelga™ (eliglustat) capsules, oral therapy for certain adult Gaucher disease type 1 patients (Genzyme, a Sanofi company)

Hunterase® (idursulfase beta) for treatment of MPS II, Hunter syndrome (Green Cross Corp.)

PROCYSBI™ (cysteamine bitartrate) oral therapy for the management of nephropathic cystinosis in adults and children 6 years of age and older (Raptor Pharmaceutical Corp.)

Vimizim® (elosulfase alfa) for treatment of patients with MPS IVA, Morquio syndrome (BioMarin Pharmaceutical Inc.)

Detailed information about this award was presented at the WORLDSymposium 2015 banquet on Thursday, February 12.

WORLDSymposium 2015 Welcomed Laurie Muldowney, MD, (US FDA), as Keynote Speaker

Laurie Muldowney, MD, was the 2015 Keynote Speaker for WORLDSymposium 2015. Dr. Muldowney is Medical Officer for the Division of Gastroenterology and Inborn Error Products at CDER/FDA. Her presentation, The Importance of Natural History Studies and Patient-Focused Data in Drug Development, was at 8:00 AM on Wednesday, February 11, 2015. Dr. Muldowney also spoke at the Toolkit 2015 luncheon session on the same day.

2015 Satellite Symposia Schedule

Satellite Symposia were offered at the following times. These Satellite Symposia were not part of the official WORLDSymposiu™ 2015 program, and WORLDSymposium 2015 does not approve or endorse any commercial products or services discussed during these Symposia or offered for sale by the corporate supporter of the Symposium. These Symposia may or may not offer CME credits; these sessions were not approved for CME through WORLDSymposium 2015.

Monday Evening, February 9, 2015, starting at 5:30 PM
New Strategies for MPS: A novel approach to address unmet needs in nonsense mutation MPS 1
Supported by PTC Therapeutics, Inc.

Tuesday Morning, February 10, 2015, 6:45 – 7:45 AM
Emerging Issues in MPS: Management of Adult Patients
Supported by BioMarin Pharmaceutical Inc.

Tuesday Evening, February 10, 2015, 6:30 – 8:30 PM
Next Generation for Lysosomal Disorders: Treatments, Biomarkers and Talent Needed to Succeed
Chaired by Marc C. Patterson, MD
Dinner session supported by Amicus Therapeutics

Wednesday Morning, February 11, 2015, 6:45 – 7:45 AM
Discovery and Research Platforms in Rare Disease
Session supported by Shire

Wednesday Evening, February 11, 2015, starting at 6:45 PM
Advancing the Management of Gaucher’s Disease
Dinner session supported by Genzyme, a Sanofi company

Thursday Morning, February 12, 2015, 6:45 – 7:45 AM
The Impact of Late Onset Pompe Disease on Respiratory Function
Session supported by BioMarin Pharmaceutical Inc.

Thursday Lunchtime, February 12, 2015, 11:30 AM – 12:45 PM
Fabry Disease: Treatment Outcomes
Closed Meeting – This symposium is for a non-US audience only
Lunch Session supported by Shire

WORLDSymposium™ 2015 Full Program on Lysosomal Diseases

Monday, Feb. 9 Tuesday, Feb. 10 Wednesday, Feb. 11 Thursday, Feb. 12

1:00 – 5:00	Pre-Conference Symposium	Emerging Trends: State of the Art for Experts (Registration required)
5:30	Satellite Symposium Supported by PTC Therapeutics	New Strategies for MPS: A novel approach to address unmet needs in nonsense mutation MPS 1

Basic and bench research. Following the opening remarks, presentations in the morning and afternoon sessions will discuss innovations in technology and how they can be applied to early diagnosis for lysosomal conditions, progress in gene therapy, and exploitation of differences at the cellular level that may indicate early disease state. On Tuesday, the noon hour is reserved for a meeting with the WORLDSymposia Council of Patient Advocates (COPA)™ that focuses on patient involvement in research planning and subject recruitment.

Basic Science I

Co-Chairs: Perry Hackett & Jill Morris

6:45	Satellite Symposium Supported by BioMarin Pharmaceutical Inc.	Emerging Issues in MPS: Management of Adult Patients
7:50	Chester B. WhitleyUniversity of Minnesota Minneapolis, MN, United States	Welcome and Opening Remarks
8:00	Steven C. Groft National Institute of Health Bethesda, MD, United States	WORLDSymposium 2015 Award for Innovation and Accomplishment
8:30	Sandra D.K. Kingma Academic Medical Center Amsterdam, Netherlands	A study on the influence of glycosaminoglycan and growth factor interaction in mucopolysaccharidosis type I bone disease
8:45	Richard Steet University of Georgia Athens, GA, United States	Small molecule modulation of CI-MPR-dependent uptake of therapeutic enzymes in patient fibroblasts
9:00	Alexey Pshezhetsky CHU Ste-Justine, University of Montreal Montreal, QC, Canada	Brain disease in mucopolysaccharidosis IIIC mouse: neuroinflammation, mitochondrial defects and neurodegeneration
9:15	Sun H. Peck University of Pennsylvania Philadelphia, PA, United States	Failed vertebral bone formation in mucopolysaccharidosis VII dogs is associated with impaired chondrocyte hypertrophic differentiation
9:30	Eric J. HerbigImmusoft Seattle, WA, United States	Sleeping Beauty engineered human B lymphocytes express therapeutic levels of human iduronidase: a new approach for mucopolysaccharidosis type I
9:45	Shaalee Dworski University of Toronto Toronto, ON, Canada	Spatial distribution of brain ceramides in an acid ceramidase deficient murine model: subsequent histological manifestations and functional deficits
10:00	Break & Exhibits
10:15	Lishu Li NIAMS, National Institutes of Health Bethesda, MD, United States	Two masters of lysosomal and autophagosomal biogenesis, TFEB and TFE3, and their potential therapeutic value in Pompe disease
10:30	Fabian P.S. Yu University of Toronto Toronto, ON, Canada	Impaired lung function in the acid ceramidase deficient mouse
10:45	Matilda R. Jackson University of Adelaide Adelaide, Australia	α-L-iduronidase transduced mesenchymal stem cells improve the behavioural deficits in mucopolysaccharidosis type I mice
11:00	Daniel K. Borger National Institutes of Health Bethesda, MD, United States	Impaired autophagy leads to inflammasome activation and a heightened inflammatory profile of macrophages in Gaucher disease
11:15	Derek G. Burke Institute of Child Health, University College London London, United Kingdom	Lysosomal β-glucosidase (GBA1) and non-lysosomal β-glucosidase (GBA2), potential involvement in the pathogenesis of Gaucher disease/Parkinson disease
11:30	Lunch Break	Council of Patient Advocates (COPA) or Lunch On Your Own

Basic Science II

Co-Chairs: Rashmi Gopal-Srivastava & Scott McIvor

1:00	Keisuke Kitakaze The University of Tokushima Tokushima, Japan	Development of protease−resistant modified human β-hexosaminidase B and evaluation of intracerebroventricular replacement effects on GM2 gangliosidosis model mice
1:15	Nilima Kolli University of Massachusetts Amherst Amherst, MA, United States	Molecular basis of sialidosis and its treatment
1:30	Hitoshi Sakuraba Meiji Pharmaceutical University Kiyose, Japan	Determination of the structure of human α-l-iduronidase and structural basis of mucopolysaccharidosis type Ι
1:45	Takahiro Tsukimura Meiji Pharmaceutical University Kiyose, Japan	Comprehensive study of Fabry disease: gene mutation, GLA activity, GLA protein and globotriaosylsphingosine
2:00	Sheng Dai National Institutes of Health Bethesda, MD, United States	Rapid kinetics of beta-cyclodextrin entering and exiting cells: implication of its mechanism on reduction of cholesterol accumulation in Niemann-Pick disease type C cells
2:15	Robert J. Desnick Mount Sinai School of Medicine New York, NY, USA	Fabry disease: the α-galactosidase A (GLA) c.427G>A (A143T) mutation, effect of the 5′-10C>T polymorphism
2:30	Janine Reunert University Hospital Muenster Muenster, Germany	Improved diagnostics of Niemann-Pick type C by the analysis of plasma oxysterols
2:45	Break & Exhibits
3:00	Camilla Tøndel Haukeland University Hospital Bergen, Norway	Foot process effacement is an early marker of nephropathy in young classic Fabry patients without albuminuria
3:15	Francyne Kubaski University of Delaware Newark, DE, United States	Noninvasive pulmonary function test on Morquio syndrome type A patients
3:30	Jorge J. Cebolla Hospital Universitario Miguel Servet Zaragoza, Spain	Experience with 7-ketocholesterol and ccl18/parc as surrogated biomarkers in a series of Spanish Niemann-Pick disease type C patients
3:45	Janine Gilkes University of Florida Gainesville, FL, United States	Evaluation of biodistribution and transduction profiles of novel AAV8 capsid mutated variants as a therapeutic candidate for the treatment of MPS IIIB
4:00	John J. Naleway Marker Gene Technologies, Inc. Eugene, OR, United States	Targeted chaperone therapy agents for Gaucher disease
4:15	Robert R. Gotschall Amicus Therapeutics Cranberry, NJ, United States	Novel recombinant human acid α-glucosidase with optimal glycosylation is significantly better than standard of care enzyme replacement for glycogen clearance in skeletal muscles of GAA knock-out mice
4:30	Poster Reception & Presentation
6:30	Satellite Symposium Supported by Amicus Therapeutics	Next Generation for Lysosomal Disorders: Treatments, Biomarkers and Talent Needed to Succeed

Translational research. The second day of the meeting turns to the challenge of moving laboratory discoveries to therapy, the important hurdles of translational research. Some broad topics of discussion include modulation of CNS affects of disease, how to increase the efficacy of therapeutic modalities, and genotype/phenotype correlations.

Translational Research I

Co-Chairs: David Pearce & Danilo Tagle

6:45	Satellite Symposium Supported by Shire	Discovery and Research Platforms in Rare Disease
7:50	Chester B. Whitley University of Minnesota Minneapolis, MN, United States	Welcome and Opening Remarks
8:00	Laurie Muldowney, Keynote Speaker Division of Gastroenterology and Inborn Error Products CDER/FDA Silver Spring, MD, United States	The importance of natural history studies and patient focused data in drug development
8:30	C. Ronald Scott University of Washington Seattle, WA, United States	Identification of newborn infants at risk for a lysosomal disease by tandem mass spectrometry
8:45	Andrea M. Atherton Children’s Mercy Hospital Kansas City, MO, United States	The first two years of full population pilot newborn screening for lysosomal disorders: the Missouri experience
9:00	Edward H. Schuchman Icahn School of Medicine at Mount Sinai New York, NY, United States	Novel use of the lysosomal enzyme acid ceramidase for the treatment of inflammatory lung diseases, including cystic fibrosis
9:15	Wendy E. Heywood University College London London, United Kingdom	Urine biomarker discovery using label free proteomics reveals novel markers for the monitoring of treatment for mucopolysaccharide disorders
9:30	David M. Bedwell UAB Birmingham, AL, United States	The nonsense suppression drug PTC124 restored alpha-l-iduronidase activity and reduces glycosaminoglycan accumulation in MPS IH mice carrying the Idua-W402X mutation
9:45	Calogera M. Simonaro Icahn School of Medicine at Mount Sinai New York, NY, United States	Pentosan polysulfate: new mechanistic insights and treatment of the mucopolysaccharidoses
10:00	Break & Exhibits
10:15	Suresh Vijay Birmingham Children’s Hospital Birmingham, United Kingdom	Evaluation of blood-brain barrier integrity and structural abnormalities in MPS IIIb patients using cerebrospinal fluid/serum albumin index (CSF-AI) and multimodal MRI
10:30	Jean E. Lachowicz Angiochem Montreal, QC, Canada	Systemic administration of a brain-penetrant peptide-iduronidase conjugate results in brain IDUA activity in MPS I mice
10:45	Jeffrey Esko University of California, San Diego La Jolla, CA, United States	Intranasal enzyme replacement therapy in mice
11:00	Eun-Young Choi NICHD/NIH Bethesda, MD, United States	Choroid plexus-directed viral gene therapy for α-mannosidosis, a prototypical lysosomal disease
11:15	Russell DeKelver Sangamo BioSciences Richmond, CA, United States	ZFN-mediated genome editing of albumin “safe harbor” in vivo results in supraphysiological levels of human IDS, IDUA and GBA in mice
11:30	Lunch Break	Toolkit: Patient Reported Outcomes and Measures of Disease Severity in Lysosomal Disease (Registration required) or Lunch On Your Own

Translational Research II

Co-Chairs: Walter Low & Ellen Sidransky

1:00	James M. Wilson University of Pennsylvania Perelman School of Medicine Philadelphia, PA, United States	Adeno-associated virus vector-mediated gene therapy can effectively treat CNS and cardiac lesions and induce immune tolerance to the therapeutic enzyme in large animal models of mucopolysaccharidosis type I
1:15	Stuart M. Ellison University of Manchester Manchester, United Kingdom	Pre-clinical workup of lentiviral mediated stem cell gene therapy for mucopolysaccharidosis type IIIA
1:30	Claire O’Leary University of Manchester Manchester, United Kingdom	Development of an adeno-associated viral vector for mucopolysaccharidosis IIIC
1:45	Katherine Ponder Washington University School of Medicine St. Louis, MO, United States	Intrathecal injection of lentiviral vector results in high expression in the brain of mucopolysaccharidosis VII dogs but the pattern of expression is different than for AAV9 or AAV-rh10
2:00	Jeff Peng BioMarin Pharmaceutical Inc. Novato, CA, United States	Improved respiratory function in a mouse model of Pompe disease treated with BMN 701
2:15	Nicholas P. Clayton Genzyme, a Sanofi company Framingham, MA, United States	Antisense oligonucleotide-mediated suppression of muscle glycogen synthase 1 synthesis as an approach for substrate reduction therapy of Pompe disease
2:30	Adeel Safdar McMaster University Hamilton, ON, Canada	Therapeutic potential of exosomoes in Pompe disease: treatment of tomorrow, today for lysosomal diseases
2:45	Break & Exhibits
3:00	Marcio M. Andrade-Campos IACS Zaragoza, Spain	Multiple myeloma and Gaucher disease share features of a cytokine profile
3:15	John Marshall Genzyme, a Sanofi company Framingham, MA, United States	Evaluation of a novel substrate reduction therapy with CNS access in mouse models of neuronopathic Gaucher disease
3:30	Matthew Nguyen National Institutes of Health Bethesda, MD, United States	Development of a novel neuronal cell model for investigating the link between glucocerebrosidase and Parkinson disease
3:45	Ashley N. Gonzalez National Institutes of Health Bethesda, MD, United States	Modeling the association between Gaucher disease and Parkinson disease using in vivo mouse models
4:00	Charles H. Vite University of Pennsylvania Philadelphia, PA, United States	Intracisternal cyclodextrin ameliorates neurological dysfunction, increases survival time, and stops Purkinje cell death in feline Niemann-Pick disease type C1
4:15	Suhail Alam University of Notre Dame Notre Dame, IN, United States	A new formulation for the treatment of neurological and systemic defects in Niemann-Pick disease type C
4:30	Poster Reception & Presentation
6:45	Satellite Symposium Supported by Genzyme, a Sanofi company	Advancing the Management of Gaucher’s Disease

Clinical research. The entire third day is committed to presentations of results from clinical trials, in most cases, the actual application of new agents in humans affected by these conditions. Day 3 will also include presentations related to re-thinking the definition of biomarkers for lysosomal disease.

Clinical Trials I

Co-Chairs: James Cloyd & Elsa Shapiro

6:45	Satellite Symposium Supported by BioMarin Pharmaceutical Inc.	The Impact of Late Onset Pompe Disease on Respiratory Function
7:50	Chester B. Whitley University of Minnesota Minneapolis, MN, United States	Welcome and Opening Remarks
8:00	Jenny Kim National Institutes of Health Bethesda, MD, United States	Gaucher disease and Parkinsonism: clinical course and prognosis
8:15	Timothy M. Cox Department of Medicine, Addenbrooke’s Hospital Cambridge, United Kingdom	ENCORE, a randomized, controlled, open-label non-inferiority study comparing eliglustat to imiglucerase in Gaucher disease type 1 patients stabilized on enzyme replacement therapy: 24-month results
8:30	Pramod Mistry Yale University New Haven, CT, United States	ENGAGE, a phase 3, randomized, double-blind, placebo-controlled, multi-center study to investigate the efficacy and safety of eliglustat in adults with Gaucher disease type 1: results after 18 months
8:45	Sandrine Turpault Genzyme, a Sanofi company Cambridge, MA, United States	CYP2D6 phenotype-based dosing of eliglustat
9:00	Ari Zimran Gaucher Clinic, Shaare Zedek Medical Center and the Hadassah Medical School-Hebrew University Jerusalem, Israel	Long-term safety and efficacy of taliglucerase alfa in pediatric patients with Gaucher disease who were treatment-naïve previously treated with immiglucerase
9:15	Marieke Biegstraaten Academic Medical Center Amsterdam, Netherlands	Consensus recommendations on initiation and cessation of enzyme replacement therapy in patients with Fabry disease
9:30	Robert J. Hopkin Cincinnati Children’s Hospital Medical Center Cincinnati, OH, United States	Risk factors for severe clinical events and the incidence of these events in male and female patients with Fabry disease treated with agalsidase beta
9:45	Derralynn Hughes University College London London, United Kingdom	Long-term efficacy and safety of migalastat compared to enzyme replacement therapy in Fabry disease: phase 3 study results
10:00	Break & Exhibits
10:15	Dominique P. Germain University of Versailles Montigny, France	A 10-year study documenting the long-term effectiveness of agalsidase-beta treatment in 52 adult patients with classic Fabry disease
10:30	Raphael Schiffmann Baylor Research Institute Dallas, TX, United States	A prospective 10 year study of individualized, intensified enzyme replacement therapy in advanced Fabry disease
10:45	Einat Almon Protalix Carmiel, Israel	Novel treatment for Fabry disease, IV administration of plant derived α-GAL-A enzyme phase 1/2 safety and efficacy study: interim clinical report
11:00	Joseph Muenzer University of North Carolina Chapel Hill Chapel Hill, NC, United States	Long-term biomarker and cognitive follow up of children with Hunter syndrome receiving intrathecal enzyme replacement therapy
11:15	Paul Harmatz UCSF Benioff Children’s Hospital Oakland Oakland, CA, United States	Impact of elosulfase alfa on pain in patients with Morquio syndrome type A
11:30	Lunch Break	Council of Industry Leaders (COIL) or Lunch On Your Own

Clinical Trials II

Co-Chairs: Agnes Chen & Raphael Schiffmann

1:00	Igor Nestrasil University of Minnesota Minneapolis, MN, United States	Brain volumes and cognitive function in MPS IIIB (Sanfilippo syndrome type B): cross-sectional study
1:15	Samantha Parker Lysogene Paris, France	AAVrh10-SGSH intracerebral gene therapy corrects the defect and improves the health status in mucopolysaccharidosis type IIIA
1:30	Julie B. Eisengart University of Minnesota Minneapolis, MN, United States	Clinical outcomes of Hurler syndrome treated exclusively with enzyme replacement therapy from a young age
1:45	Simon A. Jones St Mary’s Hospital, CMFT, University of Manchester Manchester, United Kingdom	Enzyme replacement therapy (ERT) for mucopolysaccharidosis VII (MPS VII; Sly syndrome) reduces lysosomal storage in a 36-week phase 1/2 clinical study
2:00	Raymond Y. Wang University of California, San Diego La Jolla, CA, United States	Carotid intima-media thickness and arterial stiffness of pediatric mucopolysaccharidosis patients are increased compared to both pediatric and adult populations
2:15	Arunabha Ghosh Willink Biochemical Genetics Unit Manchester, United Kingdom	Use of enzyme replacement therapy prior to haematopoietic stem cell transplantation for severe mucopolysaccharidosis I, a 10 year, 2-centre retrospective review
2:30	Paul McIntosh Duke University Medical Center Durham, NC, United States	Characterization of gait in late onset Pompe disease
2:45	Break
3:00	Priya S. Kishnani Duke University Medical Center Durham, NC, United States	Prophylactic immune modulation in infantile Pompe disease; collective experience treating CRIM-positive and negative patients in the naïve setting
3:15	Beth L. Thurberg Genzyme, a Sanofi company Cambridge, MA, United States	A phase 4 prospective study in patients with adult Pompe disease treated with alglucosidase alfa
3:30	Barbara Burton, on behalf of the ARISE Investigators Northwestern University Feinberg School of Medicine and the Ann & Robert H. Lurie Children’s Hospital Chicago, IL, United States	Results of a global phase 3, randomized, double-blind, placebo-controlled trial evaluating the efficacy and safety of sebelipase alfa as an enzyme replacement therapy in children and adults with lysosomal acid lipase deficiency
3:45	Simon A. Jones Manchester Centre for Genomic Medicine, CMFT, University of Manchester Manchester, United Kingdom	Effect of sebelipase alfa on survival and liver function in infants with rapidly progressive lysosomal acid lipase deficiency
4:00	Melissa P. Wasserstein Icahn School of Medicine at Mount Sinai New York, NY, United States	An open-label, multicenter, ascending-repeat-dose study of the tolerability and safety of recombinant human acid sphingomyelinase (rhASM) in patients with ASM deficiency (ASMD)
4:15	Jonathan P. Dyke Weill Cornell Medical College New York, NY, United States	Comparison of cortical thinning in late infantile neuronal ceroid lipofuscinosis with a normative pediatric population using magnetic resonance imaging
6:00	Closing Banquet and Award Ceremony	New Treatment Awards

2015 Emerging Trends in Lysosomal Biology & Lysosomal Diseases: State-of-the-art for Experts

Monday, February 9, 2015 from 1:00 – 5:00 PM

The Emerging Trends 2015 pre-conference session provided a foundation for researchers and health care practitioners interested in gaining more background on the diagnosis and treatment of lysosomal diseases. Content covered accepted methods of diagnosis and treatment of the known lysosomal diseases. New and/or ongoing research was not included in this activity. Emerging Trends 2015 was taught at the graduate-school level and was targeted towards people who wanted to learn more of the fundamental information that provides the basis for future research and treatments, as well as those who would benefit from a refresher on this topic.

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.

Agenda

1:00 PM
Introduction and Overview, ARS Demo Questions
Chester B. Whitley, PhD, MD

1:10 PM
Molecular and Cellular Biology of Lysosomes and Lysosomal Disease
Steven U. Walkley, DVM, PhD

2:00 PM
Lysosomal Diseases and Pathology
Chester B. Whitley, PhD, MD

2:55 PM
Break

3:10 PM
Treatments for Lysosomal Diseases
Jeanine R. Utz, PharmD

4:00 PM
Clinical Correlation: Cases of Lysosomal Disease
Marc C. Patterson, MD

4:55 PM
Final Q&A and Evaluation

5:00 PM
Adjourn

Invited Faculty

Chair: Chester B. Whitley, PhD, MD
Principal Investigator, Lysosomal Disease Network
Professor of Pediatrics,
Department of Pediatrics,
University of Minnesota,
Minneapolis, MN, USA

Marc C. Patterson, MD, FRACP
Chair – Division of Child and Adolescent Neurology
Professor of Neurology, Pediatrics and Medical Genetics
Director of the Child Neurology Training Program,
Mayo Clinic Children’s Center
Rochester, MN, USA

Jeanine R. Utz, PharmD, BCOP, BCPS
Adjunct Assistant Professor, Experimental and Clinical Pharmacology
College of Pharmacy
University of Minnesota, Fairview
Minneapolis, MN, USA

Steven U. Walkley, DVM, PhD
Professor, Dominick P. Purpura Department of Neuroscience
Professor, Department of Pathology
Professor, The Saul R. Korey Department of Neurology
Director, Rose F. Kennedy Intellectual and Developmental Disabilities Research Center,
Albert Einstein College of Medicine
Rose F. Kennedy Center
Bronx, NY, USA

2015 Exhibitors

Amicus Therapeutics

Amicus Therapeutics is a biopharmaceutical company developing next-generation treatments for a broad range of human genetic diseases, with a focus on improving therapies for lysosomal storage diseases.

Alexion Pharmaceuticals, Inc.

Alexion is a biopharmaceutical company focused on serving patients with severe and rare disorders through the innovation, development and commercialization of life-transforming therapeutic products. Alexion is developing its next product, asfotase alfa, as an investigational treatment for patients with hypophosphatasia.

Batten Disease Support and Research Association

Batten Disease Support and Research Association: In order to effectively combat the devastation of the disease and to fully support research efforts to unravel the mysteries of Batten disease, the worlds of medical science, those affected by Batten disease and their families must meet and work closely together to reach understanding and common goals.

BioMarin Pharmaceutical Inc.

BioMarin Pharmaceutical Inc. BioMarin develops and commercializes innovative biopharmaceuticals for serious diseases and medical conditions.

The Fabry Support and Information Group

FSIG’s mission is to raise awareness of Fabry disease and its symptoms. FSIG’s primary goals are to educate and support. To help facilitate this FSIG maintains a confidential database of Fabry patients to assist in networking. This database also serves as a means of documenting the increasing numbers of diagnosed Fabry cases. FSIG also maintains a library of information about Fabry disease and is continually updating this body of knowledge.

Genzyme, a Sanofi company

Genzyme, a Sanofi company is committed to discovering and delivering transformative therapies for patients with rare and special unmet medical needs, providing hope where there was none before.

The Greenwood Genetic Center

The Greenwood Genetic Center is a nonprofit institute organized to provide clinical genetics services, diagnostic laboratory testing, educational programs and resources and research in the field of medical genetics.

InsideMD

At InsideMD, we are a survey tool that understands physicians. These surveys are created by doctors for doctors. After completing a survey, you can compare your responses with those peers to gain insights into what sets your practice apart from your colleagues.

The International Society for Mannosidosis and Related Diseases (ISMRD)

The International Society for Mannosidosis and Related Diseases (ISMRD) is an internationally focused not-for-proft organization whose mission is to advocate for families and patients affected by one of the following disorders: Alpha-Mannosidosis, Aspartylglucosaminuria, Beta-Mannosidosis, Fucosidosis, Galactosialidosis, Mucolipidosis I (Sialidosis), Mucolipidosis II alpha/beta (I-Cell Disease), Mucolipidosis III alpha/beta (Pseudo-Hurler Polydystrophy), Mucolipidosis III Gamma, and Schindler Disease.

LAL Aware

LAL Aware is a non-profit organization who supports those who are affected by Lysosomal Acid Lipase Deficiency (LAL D). This group is made up of parents, patients and professionals directly affected by LAL D.

Lukare Medical, LLC

Lukare Medical, LLC is dedicated to ensuring the commercial viability of small market products that offer the highest value for patients with rare medical needs.

Lysosomal & Rare Disorders Research & Treatment Center

Internationally renowned experts focused on the individual patients with rare diseases, offering care by the highest standards, leading protocols and personalized services. We provide multi-center collaborative trials, investigator initiated studies, pilot and proof-of-concept studies and Bench-bedside protocols with expertise in translational medicine.

MLD Foundation

The MLD Foundation is a 501(c)(3) non-profit US tax-exempt organization formed in May 2001 to serve families throughout the world affected by metachromatic leukodystrophy (MLD), a terminal genetic disease.

Newborn Screening Translational Research Network (NBSTRN)

The Mission of the Newborn Screening Translational Research Network (NBSTRN) is to improve the health outcomes of newborns with genetic or congenital disorders by means of an infrastructure that allows investigators access to robust resources for newborn screening research.

Orsini Healthcare

Orsini Healthcare provides a unique combination of professional services, clinical teams, medical products, and a full-service pharmacy to transition from a health care facility to home or to manage a health condition. For complex medical conditions as well as routine health needs, Orsini delivers the guidance, confidence and expertise that is essential for successful outcomes.

Pfizer Inc.

Pfizer has a leading portfolio of products and medicines that support wellness and prevention, as well as treatment and cures for diseases across a broad range of therapeutic areas; and Pfizer has an industry-leading pipeline of promising new products that have the potential to confront some of the most challenging diseases of our time.

Raptor Pharmaceutical Corp.

Raptor Pharmaceutical Corp. is an emerging global biopharmaceutical company focused on developing and commercializing life-altering therapeutics that treat rare, debilitating and often fatal diseases.

Rare Disease Report

Rare Disease Report is a website and weekly e-newsletter that offers an independent voice for the Rare Disease Community. It strives to bring together medical, scientific, investment, regulatory, and advocate professionals interested in rare diseases and orphan drugs. Rare Disease Report is proud to be the media partner for WORLDSymposium 2015.

Shire International

Shire International focuses on developing treatments for conditions where the impact of medicine can make an immediate and tangible difference for patients. Shire provides treatments in Neuroscience, Rare Diseases, Gastrointestinal, and Internal Medicine.

Shire Pharmaceuticals

Shire Pharmaceuticals is a global specialty biopharmaceutical company that works closely with specialist physicians, nurses, pharmacists and other healthcare professionals to develop and market medicines that aim to improve quality of life for patients, their families and carers.

Synageva BioPharma

Synageva BioPharma Corp. is a biopharmaceutical company with headquarters, research and development facilities in Lexington, MA. Their mission is to deliver breakthrough medicines globally for patients suffering from rare, devastating diseases. Their team has a proven track record of delivering life-altering therapies to patients with diseases once considered too rare for developing treatments.

Ultragenyx Pharmaceutical Inc.

Ultragenyx is a clinical-stage biotechnology company committed to bringing to market novel products for the treatment of rare and ultra-rare diseases, with an initial focus on serious, debilitating genetic diseases.

University of Minnesota and Fairview Pharmacy Services

University of Minnesota Health, in partnership with Fairview Pharmacy Services, diagnoses and treats patients with rare diseases. Pharmacy services include comprehensive drug therapy management, oral and infused therapies, home infusion with nationwide care coordination and clinical trials services.

Patient Reported Outcomes and Measures of Disease Severity in Lysosomal Disease

Wednesday, February 11, 2015 from 11:30 AM – 12:45 PM

This program provided a discussion of challenges to data collection and ways to overcome these challenges to produce valid and reliable research data. There were short presentations in the context of a panel discussion, along with time for audience Q&A.

Learning Objectives

At the end of this program, the participant will be able to:

Identify key features of current measurement tools: including QOL, pain, behavioral, adaptive and ADL measures
Utilize these measurement tools can help define disease progression and measure treatment outcomes.
Discuss how patient reported outcomes correlate with objective disease state.

Agenda

11:30 AM
Registration and Check-in

11:40-11:45 AM
Introduction to patient and parent reported outcomes
Elsa G. Shapiro, PhD, ABPP, LP

11:45 AM-12:00 PM
Use of patient/parent reported outcomes in natural history studies and clinical trials
Laurie Muldowney, MD

12:00-12:10 PM
Evidence-Based QOL (Quality of Life) Measurements
Julie B. Eisengart, PhD, LP

12:10-12:20 PM
Measurement of Adaptive Function
Kathleen A. Delaney, CCRC, CSP

12:20-12:25 PM
Measures of Behavior — Example from MPS IIIA
Elsa G. Shapiro, PhD, ABPP, LP

12:25-12:35 PM
Disease-specific developed measure (MPS HAQ) vs. general validated tool (EQ-5D-5L) in MPS IVA
Christian J. Hendriksz, MBChB, MSc, FRCPCH

12:35-12:50 PM
Panel Discussion and Audience Q&A
Faculty

Invited Faculty

Kathleen A. Delaney, CCRC, CSP
Community Program Specialist,
Division of Clinical Behavioral Neuroscience,
Department of Pediatrics,
University of Minnesota
Minneapolis, Minnesota, USA

Julie B. Eisengart, PhD, LP
Assistant Professor of Pediatrics,
Pediatric Neuropsychology,
Division of Clinical Behavioral Neuroscience,
University of Minnesota
Minneapolis, Minnesota, USA

Christian J. Hendriksz, MBChB, MSc, FRCPCH
Clinical Lead, Consultant Transitional Metabolic Disorders,
Salford Royal Foundation NHS Trust, Mark Holland Metabolic Unit
Salford, United Kingdom
Honorary Senior Lecturer,
Faculty of Medical and Human Sciences – Imaging, Genomics and Proteomics,
Manchester Academic Health Science Centre,
The University of Manchester
Manchester, United Kingdom

Laurie Muldowney, MD
Medical Officer,
Division of Gastroenterology and Inborn Error Products,
CDER/FDA
Silver Spring, Maryland, USA

Elsa G. Shapiro, PhD, ABPP, LP
Professor of Pediatrics and Neurology,
Pediatric Neuropsychology, Division of Pediatric Clinical Neuroscience,
Department of Pediatrics,
University of Minnesota
Minneapolis, Minnesota, USA

Christopher P. Austin, MD, Delivered Keynote at WORLDSymposium 2016

Christopher P. Austin, MD, delivered the Keynote Address at WORLDSymposium 2016. Dr. Austin is director of the National Center for Advancing Translational Sciences (NCATS) at the National Institutes of Health (NIH). Austin leads the Center’s work to improve the translation of observations in the laboratory, clinic and community into interventions that reach and benefit patients — from diagnostics and therapeutics to medical procedures and behavioral changes. Under his direction, NCATS researchers and collaborators are developing new technologies, resources and collaborative research models; demonstrating their usefulness; and disseminating the data, analysis and methodologies for use by the worldwide research community.

Dr. Austin delivered his address, Catalyzing Translational Innovation, at WORLDSymposium 2016.

Barbara Wedehase Received New 2016 Patient Advocate Leader (PAL) Award

WORLDSymposium and Lysosomal Disease Network gave thanks to someone very special who has contributed directly to lives of countless individuals dealing personally with a lysosomal disease. With a new award for Patient Advocate Leaders, the Network recognized Barbara Wedehase. Barbara Wedehase has been the Executive Director of the National MPS Society for 15 years and has overseen the tremendous growth of the Society and its programs, including over $6.5 million in research funds awarded. She has a Masters in Social Work from Washington University in St. Louis, Missouri and is a Board Certified Genetic Counselor. She was a Clinical Assistant Professor of Pediatrics in the Division of Genetics and Metabolism at the University of North Carolina prior to her work with the National MPS Society. On a national level, Ms. Wedehase served on the Steering and Executive Committees of the Lysosomal Disease Network and has been the energizing, founding leader of the Lysosomal Disease Network’s Council of Patient Advocacy (COPA) groups. She participated in an expert working group for a lysosomal disease educational initiative; served on the MPS I Technical Expert Panel for admission of MPS I to the newborn screening panel; and helped to establish the LSD Research Consortium and the awareness program, Join the Search for Patients with MPS. Internationally, Ms. Wedehase served on the Program Committees of the International MPS Societies Network and the International MPS Symposiums; was a member of the Ethics Advisory Group for the MPS VI gene therapy clinical trial.

Dr. Emil Kakkis Received 2016 Award for Innovation and Accomplishment

Each year, WORLDSymposium recognizes one individual for innovation and accomplishment in the field of lysosomal disease research and therapy. This year, the 2016 Award for Innovation and Accomplishment in the field of lysosomal disease research and therapy was presented to Emil Kakkis, MD, PhD. Over the last 22 years Dr. Kakkis is best known for his work developing novel treatments for rare diseases and policy issues affecting rare disease treatment development. Dr. Kakkis began his career as Assistant Professor at UCLA where he initiated research on enzyme replacement therapy for mucopolysaccharidosis type I. More recently, he founded the non‐profit EveryLife Foundation for Rare Diseases, dedicated to the acceleration of biotech innovation for rare diseases through practical and scientifically sound improvements to development strategies, regulatory policy and laws. Dr. Kakkis is currently President and Chief Executive Officer of Ultragenyx Pharmaceutical where he leads a drug development team working on multiple rare and ultra‐rare disease treatments.

WORLDSymposium 2016 New Treatment Award

Each year WORLDSymposium recognizes important achievements in therapy for lysosomal diseases. In 2016 one new treatment was recognized for achieving regulatory approval. The New Treatment Award went to sebelipase alfa (Kanum™) which provided clinical data meriting approval by the European Medicines Agency and by the U.S. Food and Drug Administration.

2016 Young Investigator Awards

Eight individuals received the WORLDSymposium Young Investigator Award for 2016. The award was a partial scholarship towards attendance at WORLDSymposium 2016. Numerous individuals submitted an application for the award, and the review process was difficult due to the excellent caliber of all the applicants. We would like to offer our appreciation to all of the applicants for their hard work. The following individuals received the WORLDSymposium Young Investigator Award for 2016:

Elma Aflaki
Allison Bradbury
Fu-Pang Chang
Camila de Britto Para de Aragao
Chrissa Dwyer
Arunabha Ghosh
Zhirui Jiang
Mari Mori

WORLDSymposium 2016 NIH Fellows

The following information is being provided as a courtesy to the Lysosomal Disease Network (LDN), in recognition of the LDN’s important contributions to lysosomal disease research:

Each year of the LDN’s NIH funding cycle, two postdoctoral Lysosomal Disease Network Fellows are selected, based upon their submitted applications. One LDN Fellowship is funded through LDN NIH funds. The University of Minnesota Medical School provides $50,000 matching funds for an additional postdoctoral Fellow, to be located at the University of Minnesota in the Twin Cities. Fellows are selected by the LDN Steering Committee, and can elect training in any clinically-related field such as clinical genetics, neurology, neuropsychology, or any field of medicine that might provide research or clinical service for patients with lysosomal disease. They are required to present their research at a major medical conference of their choosing, and at the recurring Conference on Clinical Research for Rare Diseases (CCRRD) presented by the Rare Diseases Clinical Research Network.

Zahra Karimian (LDN and Genzyme-Sanofi Fellow)
Li Ou (LDN Fellow)
Melani Solomon (LDN Fellow)

2016 Emerging Trends in Lysosomal Biology & Lysosomal Diseases: State-of-the-art for Experts

Monday, February 29, 2016 from 1:00 – 5:00 PM

For the fourth consecutive year, WORLDSymposium begins with “Emerging Trends” on Monday afternoon, February 29, 2016 at 1:00 PM. This 4-hour CME 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. 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. Presentations are 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 2016.

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.

Preliminary Agenda

1:00 PM
Introduction and Overview
Chester B. Whitley, PhD, MD

1:10 PM
Molecular Biology and Cell Biology of Lysosomes
Steven U. Walkley, DVM, PhD

2:00 PM
Lysosomal Diseases and Pathology
Chester B. Whitley, PhD, MD

2:55 PM
Break

3:10 PM
Treatments for Lysosomal Diseases
Jeanine R. Utz, PharmD

4:00 PM
Remarkable Cases
Marc C. Patterson, MD

4:55 PM
Final Q&A and Evaluation

5:00 PM
Adjourn

Invited Faculty

Chair: Chester B. Whitley, PhD, MD
Principal Investigator, Lysosomal Disease Network
Professor of Pediatrics,
Department of Pediatrics,
University of Minnesota,
Minneapolis, MN, USA

Jeanine R. Utz, PharmD, BCOP, BCPS
Adjunct Assistant Professor, Experimental and Clinical Pharmacology
College of Pharmacy
University of Minnesota, Fairview
Minneapolis, MN, USA

2016 Satellite Symposia Schedule

Monday Evening, February 29, 2016, 6:00 – 8:00 PM
MPS I: New horizons and opportunities for change
Supported by PTC Therapeutics, Inc.

Tuesday Morning, March 1, 2016, 6:30 – 7:30 AM
Optimizing Treatment in Morquio A: Capturing multi-domain impact through patient-directed outcomes
Supported by BioMarin Pharmaceutical Inc.

Tuesday Lunchtime, March 1, 2016, 11:45 AM – 12:45 PM
Non-immune hydrops fetalis (NIHF) in lysosomal storage diseases
Supported by Ultragenyx Pharmaceutical Inc.

Tuesday Evening, March 1, 2016, 6:30 – 8:30 PM
The Many Faces of Lysosomal Disease: A Global Perspective
Supported by Amicus Therapeutics

Wednesday Morning, March 2, 2016, 6:30 – 7:30 AM
Discovery and Research Platforms in Rare Disease
Supported by Shire

Wednesday Lunchtime, March 2, 2016, 11:30 AM – 12:45 PM
From diagnosis to treatment: a multidisciplinary approach for the management of Type I Gaucher disease
Supported by Shire International

Wednesday Evening, March 2, 2016, 6:30 – 8:30 PM
How Early is Early? When to Start ERT and Other Considerations for Optimizing Treatment of Fabry Disease
CME Satellite Sponsored by MedIQ. Supported by an educational grant from Sanofi Genzyme

Thursday Morning, March 3, 2016, 6:30 – 7:30 AM
Recognizing the signs of CLN2 disease – emerging evidence for a paradigm shift in CLN2 diagnosis
Supported by BioMarin Pharmaceutical Inc.

Thursday Lunchtime, March 3, 2016, 11:45 AM – 12:45 PM
Patients, exogenous enzymes, and substrate synthesis inhibition: A quarter-century of managing Gaucher disease
Supported by Sanofi Genzyme

2016 Poster Session Abstracts

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 is listed as the presenting author on the Preliminary Program, Agenda, and Poster List (click to download).

Abstracts submitted prior to October 1, 2014 were published in the February 2015 “Lysosomes Issue” of Molecular Genetics and Metabolism (MGM). Articles and full text of the abstracts from this issue can be purchased individually from Elsevier. The journal is available online (click here). Registered attendees received an electronic copy of the program and abstracts when they checked in at the WORLDSymposium 2015 registration desk.

The program and abstracts became copyrighted and are only available to non-registrants through Elsevier.

2016 PATIENT ADVOCATE SHOWCASE

Batten Disease Support and Research Association

BDSRA is dedicated to funding research for treatments and cures, providing family support services, advancing education, raising awareness, and advocating for legislative action to create a hopeful future for families coping with Batten disease.

Fight NPC

Funded by the Brian and Caris Chan Family Foundation and the Liferay Foundation, Fight NPC is an initiative dedicated to empowering families in their struggle against Niemann-Pick Type C. We know it’s easy to despair in the face of such an aggressive, deadly disease, but recent medical breakthroughs have given NPC-affected families across the world hope for a better life for their children. Living with NPC is difficult, but we now believe that living with NPC is possible. Don’t give up – join us as we fight NPC.

Global Genes

Global Genes™ is one of the leading rare disease patient advocacy organizations in the world with a mission to eliminate the challenges of rare disease. Global Genes promotes the needs of the rare disease community under a unifying symbol of hope – the Blue Denim Genes Ribbon™.

Jonah’s Just Begun

Jonah’s Just Begun will be representing our international consortia H.A.N.D.S. (Helping Advance Neurodegenerative Disease Science). H.A.N.D.S. raises funds and awareness for the LSD, Sanfilippo Syndrome type C and D or MPSIII C&D.

LAL Solace

The SOLACE organization (Support Organization for LAL Deficiency – Advocacy, Care and Expertise) was created to bring LAL Deficiency patients and families together to share experiences, knowledge and compassion. SOLACE stands for Support Organization for LAL Deficiency – Advocacy, Care & Expertise. The SOLACE organization was created by parents whose children were diagnosed with Wolman Disease who realized there was a need for a caring support community.

National Fabry Disease Foundation

The National Fabry Disease Foundation, a nonprofit charitable organization, provides education and support to individuals with Fabry disease and their families, and works with many other stakeholders to give people with Fabry disease an opportunity for better and longer lives.

National Organization of Rare Disorders

The National Organization for Rare Disorders (NORD) is a not-for-profit organization dedicated to improving the lives of individuals impacted by rare disease through programs of advocacy, education, research and patient/family services.

2016 EXHIBITORS

Alexion Pharmaceuticals, Inc.

Alexion is a global biopharmaceutical company focused on developing and delivering life-transforming therapies for patients with devastating and rare disorders, including Kanuma™ (sebelipase alfa) for patients with lysosomal acid lipase deficiency (LAL-D).

American College of Medical Genetics and Genomics

The Newborn Screening Translational Research Network (NBSTRN) is a contract funded by NICHD, which provides investigators resources to improve health outcomes of newborns with genetic or congenital disorders. We will be highlighting these resources at the NBSTRN Booth # 501.

Amicus Therapeutics

Amicus Therapeutics is a biotechnology company at the forefront of therapies for rare and orphan diseases. The Company has a robust pipeline of advanced therapies for a broad range of human genetic diseases.

BioMarin Pharmaceutical Inc.

BioMarin develops and commercializes innovative biopharmaceuticals for serious diseases and medical conditions. Approved products include the first and only medications for PKU and LEMS, and the first and only enzyme replacement therapies for MPS I, MPS VI and Morquio A syndrome. Visit www.BMRN.com to learn more.

Carbosynth LLC

Carbosynth is a life science company specialising in the production of novel carbohydrate based materials and in particular fluorogenic/ chromagenic substrates used in enzyme assays. Our labs, based in the UK also offer a custom synthesis service.

Emory Genetics Laboratory

Emory Genetics Laboratory is dedicated to providing superior, cutting-edge genetic testing for use in patient care. We strive to make the diagnostic process clear and efficient for our clients and patients. Have a question? Please call (855) 831-7447 to speak with our experienced Client Services team or browse our website for details on our services. You can also visit us online at www.geneticslab.emory.edu.

Fairview Specialty Pharmacy

Fairview Specialty Pharmacy provides comprehensive and individualized drug therapy for patients with rare diseases. Our services include care coordination of home infusion and specialty pharmacy, clinical trial management, and an Advanced Therapies Program.

The Greenwood Genetic Center

Living in the Light

A patient advocacy initiative utilizing the potency of photography and compelling narratives to educate about the realities of life faced by rare diseases.

Lysosomal & Rare Disorders Research Center

LDRTC is a non-profit organization focused on the individual patients with Lysosomal and other rare disorders. LDRTC offers clinical care by the highest standards with a special expertise in translational medicine, and conducts investigator initiated studies, bench-to-bedside studies, self sponsored multi-center collaborative trials, pilot and proof-of-concept studies.

Mayo Medical Laboratories

Mayo Medical Laboratories is a global reference laboratory operating within Mayo Clinic’s Department of Laboratory Medicine and Pathology. Our comprehensive test menu includes biochemical and molecular assays for screening, diagnosing, and monitoring lysosomal storage disorders in both children and adults.

Orsini Healthcare

Orsini Healthcare is a boutique, national specialty pharmacy focused on providing care to patients with rare and complex medical conditions.

Pfizer Inc.

Protalix Biotherapeutics

Protalix is dedicated to discovering, developing, and marketing recombinant therapeutic proteins with potentially improved clinical profiles, produced with our ProCellEx® plant cell-based protein expression platform. Our first approved product was taliglicerase alfa for Gaucher disease. Our pipeline includes PRX 102, a novel enzyme replacement therapy in development for Fabry disease entering phase III studies and other investigational products in clinical development for cystic fibrosis and inflammatory bowel disease.

Raptor Pharmaceutical Corp.

Rare Disease Report

Retrophin

Retrophin is a biopharmaceutical company focused on the discovery and development of drugs for the treatment of catastrophic diseases that are debilitating and often life-threatening, and for which there are currently limited patient options.

Sangamo BioSciences, Inc.

Sangamo BioSciences, the leader in therapeutic genome editing, is focused on developing one-time treatments for monogenic diseases, including lysosomal storage disorders, by deploying its proprietary In Vivo Protein Replacement Platform™ (IVPRP™).

Sanofi Genzyme

Sanofi Genzyme focuses on developing specialty treatments for debilitating diseases that are often difficult to diagnose and treat, providing hope to patients and their families.

Shire International

Shire enables people with life-altering conditions to lead better lives. Our strategy is to focus on developing and marketing innovative specialty medicines to meet significant unmet patient needs. We provide treatments in Neuroscience, Rare Diseases, Gastrointestinal, and Internal Medicine and we are developing treatments for symptomatic conditions treated by specialist physicians in other targeted therapeutic areas, such as Ophthalmology.

Shire

Ultragenyx Pharmaceutical Inc.

Ultragenyx is a clinical-stage biotechnology company committed to bringing to market novel products for the treatment of rare and ultra-rare diseases. Recombinant Human Beta-Glucuronidase (rhGUS) is in development as an investigational enzyme replacement therapy for Mucopolysaccharidosis VII (MPS VII, Sly Syndrome).

WORLDSymposium™ 2016 Full Program on Lysosomal Diseases

Monday, Feb. 29 Tuesday, Mar. 1 Wednesday, Mar. 2 Thursday, Mar. 3

1:00 – 5:00	Pre-Conference Symposium	Emerging Trends: State of the Art for Experts (Registration required)
5:15	Handprints Across America	Please join other WORLDSymposium attendees in the Palm Foyer for a Rare Disease Day Handprints Across America photo from WORLDSymposium.
6:00 – 8:00	Satellite Symposium Supported by PTC Therapeutics	MPS I: New horizons and opportunities for change

Basic Science I

Co-Chairs: Walter Low, Danuta Krotoski, Gregory Grabowski

6:30	Satellite Symposium Supported by BioMarin Pharmaceutical Inc.	Optimizing Treatment in Morquio A: Capturing multi-domain impact through patient-directed outcomes
7:50	Chester B. Whitley University of Minnesota Minneapolis, MN, United States	Welcome and Opening Remarks
8:00	Emil Kakkis Ultragenyx Pharmaceutical Novato, CA, United States	WORLDSymposium 2016 Award for Innovation and Accomplishment
8:30	Chrissa Dwyer University of California San Diego La Jolla, CA, United States	Lysosomal degradation of heparan sulfate is required for normal development of the neural circuitry
8:45	Camila de Aragao CHU Sainte-Justine Mother and Child University Hospital Center Montreal, QC, Canada	Synaptic dysfunction in Sanfilippo syndrome type C
9:00	Vincent Puy CHU Amiens, Centre de Biologie Humaine Amiens, France	Alteration of cerebral iron metabolism in Sanfilippo syndrome
9:15	S. Pablo Sardi Genzyme, a Sanofi company Framingham, MA, United States	Glucosylceramide synthase inhibition reduces α-synuclein pathology and improves cognition in murine models of synucleinopathy
9:30	Mia Horowitz Tel Aviv UniversityRamat Aviv, Israel	Presence of mutant GBA allele leads to ER stress and development of Parkinson’s disease
9:45	Yvonne L. Latour National Institutes of Health Bethesda, MD, United States	Development of isogenic human cerebral organoids with beta-galactosidase deficiency
10:00	Break & Exhibits
10:15	Manoj K. Pandey Cincinnati Children’s Hospital Medical Center Cincinnati, OH, United States	Immune cells attack and neurodegeneration in Gaucher disease
10:30	Debora Bertholdo DAPI – Diagnóstico Avançado por Imagem Curitiba, Brazil	Structural changes in the brain of patients with Gaucher disease
10:45	Volkan Seyrantepe Izmir Institute of Technology Izmir, Turkey	Deletion of sialidase NEU3 causes progressive neurodegeneration in Tay-Sachs mice
11:00	Andreas Schaaf Greenovation Biotech GmbH Freiburg, Germany	Moss−aGal: preclinical evaluation of a plant made enzyme replacement for Fabry disease
11:15	Jin-Song Shen Baylor Research Institute Dallas, TX, United States	Sortilin expression and uptake of α-galactosidase A: a general mechanism of endocytosis in Fabry disease cell types
11:30	Lunch Break	Council of Patient Advocates (COPA) Lunch Meeting or Lunch Satellite Symposium Non-immune hydrops fetalis (NIHF) in lysosomal storage diseases Supported by Ultragenyx Pharmaceutical Inc. or Lunch on Your Own

Basic Science II

Co-Chairs: Scott McIvor, Rashmi Gopal-Srivastava

1:00	Takahiro Tsukimura Meiji Pharmaceutical University Kiyose, Japan	Anti-α-galactosidase A antibodies and serum-mediated inhibition in Fabry disease
1:15	Derrick T. Deming University of Massachusetts Amherst Amherst, MA, United States	The molecular basis of Pompe disease: crystal structure of acid alpha-glucosidase
1:30	Nina Raben National Institutes of Health Bethesda, MD, United States	Pompe disease: from pathophysiology to therapy and back again
1:45	Richard Steet University of Georgia Athens, GA, United States	Cathepsin-mediated alterations in TGF-β related signaling underlie the cartilage and bone defects associated with impaired lysosomal targeting
2:00	Zhirui Jiang The University of Adelaide Adelaide, Australia	Reduced chondrocyte proliferation and hypertrophy contribute to delayed endochondral bone formation in murine mucopolysaccharidosis VII
2:15	Alessandra d’Azzo St.Jude Children’s Research Hospital Memphis, TN, United States	Pathogenic cascade downstream of NEU1 regulated lysosomal exocytosis
2:30	Jonathan H. LeBowitz BioMarin Novato, CA, United States	Utilizing activity assays and population-wide allele frequencies to assess the contribution of novel mutations in NAGLU to MPS IIIB incidence
2:45	Break & Exhibits
3:00	Maria Fuller SA Pathology North Adelaide, Australia	Manipulation of regional brain bis(monoacylglycero)phosphate in the MPS I mouse by dietary fatty acid supplementation
3:15	Kanut Laoharawee University of Minnesota Minneapolis, MN, United States	AAV9 mediated correction of iduronate-2-sulfatase deficiency in the central nervous system of mucopolysaccharidosis type II mice
3:30	Kanagaraj Subramanian The Scripps Research Institute La Jolla, CA, United States	Quantitative analysis of the proteome response to histone deacetylase inhibitor in Niemann-Pick disease
3:45	Li Ou Department of Pediatrics, University of Minnesota Minneapolis, MN, United States	ZFN-mediated correction of murine MPS I model by expression of the human IDUA cDNA from the albumin “safe harbor” locus
4:00	Richie Khanna Amicus Therapeutics Cranbury, NJ, United States	Co-administration of the pharmacological chaperone AT2221 with a proprietary recombinant human acid alfa-glucosidase leads to greater plasma exposure and substrate reduction compared to alglucosidase alfa
4:15	Mustafa A. Kamani University Health Network Toronto, ON, Canada	Reduced glucocerebrosidase activity improves acid ceramidase deficient mice
4:30	Poster Reception & Presentation
6:30	Satellite Symposium Supported by Amicus Therapeutics	The Many Faces of Lysosomal Disease: A Global Perspective

Translational Research I

Co-Chairs: Jill Morris, Raphael Schiffmann

6:30	Satellite Symposium Supported by Shire	Discovery and Research Platforms in Rare Disease
7:50	Chester B. Whitley University of Minnesota Minneapolis, MN, United States	Announcements
8:00	Christopher P. Austin National Center for Advancing Translational Sciences (NCATS) at the National Institutes of Health (NIH).	Keynote Speaker: Catalyzing Translational Innovation
8:30	Lalitha Belur University of Minnesota Minneapolis, MN, United States	Intranasal gene delivery of AAV9 iduronidase: a non-invasive and effective gene therapy approach for prevention of neurologic disease in a murine model of mucopolysaccharidosis type I
8:45	Tammy Kielian University of Nebraska Medical Center Omaha, NE, United States	Adeno-associated virus 9 gene therapy for juvenile neuronal ceroid lipofuscinosis
9:00	Walter L. Acosta BioStrategies LLC State University, AR, United States	Lectin-mediated delivery of α-L-iduronidase: a novel approach for MPS I enzyme replacement therapy
9:15	Elma Aflaki NIH/NHGRI Bethesda, MD, United States	iPSC-derived dopaminergic neurons from patients with Gaucher disease and Parkinsonism demonstrate the potential of a new glucocerebrosidase chaperone
9:30	Allison Bradbury University of Pennsylvania Philadelphia, PA, United States	Natural history study and preliminary assessment of therapies in canine globoid cell leukodystrophy
9:45	Haiyan Fu Research Institute at Nationwide Children’s Hospital Columbus, OH, United States	Functional benefits of systemic rAAV9-HIDS gene delivery in MPS II mouse model
10:00	Break & Exhibits
10:15	Behzad Najafian University of Washington Seattle, WA, United States	Podocyte globotriaosylceramide (GL-3) content in male adult patients with Fabry disease reduces following 6-12 months of treatment with migalastat
10:30	Baodong Sun Duke University School of Medicine Durham, NC, United States	New perspectives for ERT in Pompe disease: extending the action of the enzyme to cytosolic targets
10:45	Mark Tarnopolsky McMaster University Hamilton, ON, Canada	Exosome-mRNA and exosome-protein therapy for Niemann-Pick disease type C
11:00	Rasa Ghaffarian University of Maryland College Park, MD, United States	ICAM-1 targeting by direct conjugation enhances gastrointestinal transcytosis and encapsulation enables gastric protection and controlled released for oral enzyme delivery
11:15	Sang-oh Han Duke University Medical Center Durham, NC, United States	Minimum effective dose for immune tolerance induction with an adeno-associated virus vector in Pompe disease
11:30	Lunch Break	Lunch Satellite Symposium From diagnosis to treatment: a multidisciplinary approach for the management of Type I Gaucher disease Supported by Shire International or Lunch on Your Own

Translational Research II

Co-Chairs: Danilo Tagle, Dolan Sondhi

1:00	Rachel L. Manthe University of Maryland College Park, MD, United States	Enhanced lysosomal enzyme delivery across the blood-brain barrier by modulating the valency of ICAM-1-targeted nanocarriers
1:15	Adeel Safdar McMaster University Hamilton, ON, Canada	Exosome-mRNA (EXERNA) therapy for Pompe disease
1:30	Heather L. Gray-Edwards Auburn University Auburn University, AL, United States	Long term survival after gene therapy in a feline model of Sandhoff disease
1:45	Alia Ahmed University of Minnesota Minneapolis, MN, United States	Association of physical symptom score (PSS) with age and cognitive measures in attenuated mucopolysaccharidosis types I, II and VI
2:00	Mika Aoyagi-Scharber BioMarin Pharmaceutical Inc. Novato, CA, United States	Time- and dose-dependent normalization of pathological lysosomal storage and biochemistry in the mucopolysaccharidosis ΙΙΙΒ (MPS ΙΙΙΒ, Sanfilippo Β) mouse model by intracerebroventricular enzyme replacement therapy with ΒΜΝ 250, a ΝAGLU-ΙGF2 fusion protein
2:15	Lauren C Boudewyn Albert Einstein College of Medicine Bronx, NY, United States	Assessment of n-butyl-deoxynojirimycin as a therapeutic option for mucolipidosis type IV
2:30	Russell DeKelver Sangamo BioSciences Richmond, CA, United States	ZFN-mediated in vivo genome editing results in supraphysiological levels of human iduronate 2-sulfatase and phenotypic correction in a murine MPS II model
2:45	Break & Exhibits
3:00	Coy Heldermon University of Florida Gainesville, FL, United States	MRI findings reveal corollaries in brain pathology between murine and human MPS IIIB brains
3:15	Zoheb B. Kazi Duke University Durham, NC, United States	Prophylactic immune modulation in infantile Ρompe disease using low-dose methotrexate induction: a safe, inexpensive, widely accessible, and efficacious strategy
3:30	Yedda Li Washington University in St. Louis Saint Louis, MO, United States	Combination therapy increases lifespan and improves clinicobehavioral performance in the murine model of globoid cell leukodystrophy
3:45	Aaron Meadows Research Institute at Nationwide Children’s Hospital Columbus, OH, United States	Functional correction of mucopolysaccharidosis I in adult mice by a systemic rAAV9-IDUA gene delivery
4:00	Angela Schulz University Medical Center Hamburg-Eppendorf, Hamburg, Germany	Intracerebroventricular cerliponase alfa (BMN 190) in children with CLN2 disease: Interim results from a phase 1/2, open-label, dose-escalation study
4:15	Gizely N. Andrade Albert Einstein College of Medicine Bronx, NY, United States	Multisensory processing in lysosomal disorders: a behavioral and high-density electrophysiology investigation in Niemann-Pick disease type C and cystinosis
4:30	Poster Reception & Presentation
6:30	Satellite Symposium CME Satellite Sponsored by MedIQ. Supported by an educational grant from Sanofi Genzyme	How Early is Early? When to Start ERT and Other Considerations for Optimizing Treatment of Fabry Disease

Clinical Trials I

Co-Chairs: Stephen Groft, Elsa Shapiro

6:30	Satellite Symposium Supported by BioMarin Pharmaceutical Inc.	Recognizing the signs of CLN2 disease – emerging evidence for a paradigm shift in CLN2 diagnosis
7:50	Chester B. Whitley University of Minnesota Minneapolis, MN, United States	Announcements
8:00	Barbara K. Burton Ann & Robert H. Lurie Children’s Hospital Chicago, IL, United States	Newborn screening for lysosomal diseases in Illinois
8:15	Renuka P. Limgala Lysosomal and Rare Disorders Research and Treatment Center Fairfax, VA, United States	Selective large scale screening for lysosomal disorders in minority groups shows higher incidence rates
8:30	Arunabha Ghosh St Mary’s Hospital Manchester, United Kingdom	IDUA mutational profile and genotype-phenotype correlations in mucopolysaccharidosis type I
8:45	Hernan Amartino Hospital Universitario Austral Buenos Aires, Argentina	New measure to assess severity of MPS II: the disease severity score
9:00	Nathan J. Rodgers University of Minnesota Minneapolis, MN, United States	Thirty year follow-up in Hurler syndrome after hematopoietic cell transplantation: the University of Minnesota experience
9:15	Christian J. Hendriksz Salford Royal Foundation NHS Trust Salford, United Kingdom	Impact of long-term elosulfase alfa treatment on pulmonary function in patients with Morquio syndrome type A
9:30	Paul R. Harmatz UCSF Benioff Children’s Hospital Oakland Oakland, CA, United States	Impact of elosulfase alfa in patients with Morquio syndrome type A who have limited ambulation: an open-label, phase 2 study
9:45	Deborah Elstein Shaare Zedek Medical Center, affiliated with the Hebrew University-Hadassah Medical School Jerusalem, Israel	Therapeutic goals and normal clinical values achieved within 4 years of initiating velaglucerase alfa in treatment-naïve patients with Gaucher disease in phase 3 studies
10:00	Break & Exhibits
10:15	Timothy M. Cox University of Cambridge, Addenbrooke’s Hospital Cambridge, United Kingdom	Four-year follow-up from the ENCORE trial: a randomized, controlled, non-inferiority study comparing eliglustat to imiglucerase in patients with Gaucher disease type 1 stabilized on enzyme replacement therapy
10:30	Patrick B. Deegan Addenbrooke’s Hospital Cambridge, United Kingdom	Risk factors for fracture in imiglucerase-treated Gaucher disease type 1 patients in the ICGG Gaucher Registry
10:45	Magy Abdelwahab Cairo University Pediatric Hospital Cairo, Egypt	Long-term follow up and sudden unexpected death in Gaucher disease type 3 in Egypt
11:00	Raul Chertkoff Protalix BioTherapeutics Carmiel, Israel	Long-term efficacy and safety results of taliglucerase alfa through 5 years in adult treatment-naïve patients with Gaucher disease
11:15	Gerald Cox Sanofi Genzyme Cambridge, MA, United States	Functional performance in patients with late-onset Tay-Sachs and Sandhoff diseases
11:30	Lunch Break Supported by Sanofi Genzyme	Patients, exogenous enzymes, and substrate synthesis inhibition: A quarter-century of managing Gaucher disease Lunch Satellite Symposium or Lunch on Your Own

Clinical Trials II

Co-Chairs: James Cloyd, Ari Zimran

1:00	Luciana Giugliani Hospital de Clínicas de Porto Alegre Porto Algre, Brazil	Disease duration and survival in Brazilian Niemann-Pick disease type C patients: Preliminary data on potential impact of miglustat
1:15	Forbes D. Porter NIH Bethesda, MD, United States	Phase 1/2 evaluation of intrathecal 2-hydroxypropyl-β-cyclodextrin for the treatment of Niemann-Pick disease, type C1
1:30	Christine Dali Department of Clinical Genetics, Rigshospitalet Copenhagen, Denmark	Intrathecal delivery of recombinant human arylsulfatase A in children with late-infantile metachromatic leukodystrophy
1:45	Loren Pena Duke University Durham, NC, United States	Phase 1 exploratory efficacy of the novel enzyme replacement therapy neoGAA in treatment-naïve and alglucosidase alfa-treated late-onset Pompe disease patients
2:00	Mark Friedman Alexion Pharmaceuticals, Inc. Lexington, MA, United States	Safety findings from 3 trials of treatment with sebelipase alfa in children and adults with lysosomal acid lipase deficiency
2:15	Simon A. Jones Manchester Centre for Genomic Medicine, St Mary’s Hospital, Central Manchester Foundation Trust, University of Manchester Manchester, United Kingdom	Effect of sebelipase alfa on survival and liver function in infants with rapidly progressive lysosomal acid lipase deficiency: 2-year follow-up data
2:30	Robert J. Desnick Icahn School of Medicine at Mount Sinai New York, NY, United States	Evolution of cardiac pathology in type 1 classic Fabry disease: progressive cardiomyocyte enlargement leads to increased cell death and fibrosis, and correlates with severity of ventricular hypertrophy
2:45	Break
3:00	Franklin K. Johnson Amicus Therapeutics Cranbury, NJ, United States	Comparison of integrated white blood cell alpha-galactosidase A activity exposure between every-other-day orally administered migalastat and biweekly infusions of agalsidase beta or agalsidase alfa
3:15	Derralynn Hughes University College London London, United Kingdom	Novel treatment for Fabry disease – IV administration of plant derived alpha-GAL-A enzyme safety and efficacy interim report
3:30	Patricio Aguiar Centro Hospitalar Lisboa Norte Lisbon, Portugal	Urinary type VI collagen: better than albuminuria to identify incipient Fabry nephropathy
3:45	David G. Warnock UAB Birmingham, AL, United States	Anti-proteinuric therapy and Fabry nephropathy; factors associated with preserved kidney function during agalsidase-beta therapy
4:00	Dau-Ming Niu Taipei Veteran General Hospital Taipei, Taiwan	Revisited later-onset cardiac type Fabry disease – cardiac damages progressed in silence – experiences from an extremely high prevalent area, Taiwan
4:15	Suma P. Shankar Emory University School of Medicine Atlanta, GA, United States	Eye findings in Fabry disease and correlation with disease severity
6:00	Banquet and Award Ceremony	Young Investigator Award New Treatment Award Patient Advocate Leader (PAL) Award

2017 Satellite Symposia Schedule

Monday Dinner, February 13, 2017, 6:00 – 8:00 PM
Newborn Screening for Lysosomal Diseases: Recent Progress and Unanswered Questions
CME Satellite Symposium Sponsored by MedIQ
Supported by an educational grant from Sanofi Genzyme

Tuesday Breakfast, February 14, 2017, 6:30 – 7:30 AM
On the Frontline of Managing Patients with Lysosomal Diseases
Supported by Shire Commerical

Tuesday Breakfast, February 14, 2017, 6:30 – 7:30 AM
Accelerating the Conversation
Supported by Pfizer, Inc.

Tuesday Lunch, February 14, 2017, 11:45 AM – 12:45 PM
Altering the course of Maroteaux-Lamy and Morquio A from birth, through adolescence, and beyond
Supported by BioMarin Pharmaceutical Inc.

Tuesday Lunch, February 14, 2017, 11:45 AM – 12:45 PM
MPS II: One Family’s Journey
Supported by Shire Medical

Tuesday Dinner, February 14, 2017, 6:30 – 8:30 PM
Discovery and Research Platforms in Rare Disease
Supported by Shire Medical

Wednesday Breakfast, February 15, 2017, 6:30 – 7:30 AM
MPS II with cognitive impairment: approaches to improving identification and assessment
Supported by Shire Medical

Wednesday Lunch, February 15, 2017, 11:45 AM – 12:45 PM
Precision Medicine in Lysosomal Diseases: Opportunities and Challenges
Supported by Amicus Therapeutics

Wednesday Lunch, February 15, 2017, 11:45 AM – 12:45 PM
Pioneers and Innovators in Gaucher Disease
Supported by Shire Commerical

Wednesday Dinner, February 15, 2017, 6:30 – 8:30 PM
Advances in Fabry Disease: Phenotypic expression, markers of clinical severity and disease progression
Supported by Sanofi Genzyme

Thursday Breakfast, February 16, 2017, 6:30 – 7:30 AM
MPS Skeletal Disease: Current Knowledge
Supported by Ultragenyx Pharmaceutical Inc.

Thursday Breakfast, February 16, 2017, 6:30 – 7:30 AM
Fabry Disease and 15 years of Enzyme Replacement Therapy: Lessons Learned
This satellite is open only to registered attendees from outside the United States. International participants only.
Supported by Sanofi Genzyme

Thursday Lunch, February 16, 2017, 11:45 AM – 12:45 PM
Shifting Diagnosis Earlier in a Time-Critical Disease: The Important Role of Genetics in Finding CLN2
Supported by BioMarin Pharmaceutical Inc.

Thursday Lunch, February 16, 2017, 11:45 AM – 12:45 PM
Accelerating Diagnosis through Panel Testing
Supported by Sanofi Genzyme

Registration for the 13th Annual Scientific Meeting and an official WORLDSymposium name badge were required to attend any of the satellite symposia.

Titles and content for Satellite Symposia were posted as information became available.

These Satellite Symposia were not part of the official WORLDSymposium™ 2017 program, and WORLDSymposium 2017 did not approve or endorse any commercial products or services discussed during these Symposia or offered for sale by the corporate supporter of the Symposium. These Symposia may or may not offer CME credits; these sessions are not approved for CME through WORLDSymposium 2017.

2017 New Treatment Award

Each year WORLDSymposium recognizes important achievements in therapy for lysosomal diseases. In 2017 one new treatment was recognized for achieving regulatory approval. The WORLDSymposium 2017 New Treatment Award went to migalastat (Galafold™) which provided clinical data meriting approval by the European Medicines Agency and European Commission in 2016.