2022 Patient Advocate Showcase
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, and is always fatal in children. 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 who advocates, collaborates, and funds innovative and breakthrough research to ensure multiple promising paths are being explored for Sanfilippo Syndrome, in the effort to save children and better their quality of life. In addition to funding additional clinical trials, the Foundation has a focus on: 1) working with the FDA and biotechs regarding appropriate clinical trial endpoints and ensuring the caregiver voice is being incorporated every step of the way; 2) earlier diagnosis, diagnostic testing, and newborn screening; and 3) providing guidance and support to families who are navigating the landscape of clinical trials, insurance and physician support.
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.
The International Working Group on Gaucher Disease (IWGGD) is a non-profit network established to promote clinical and basic research into Gaucher disease for the ultimate purpose of improving the lives of patients with this disease; it brings together clinicians, scientists and patients in an open forum for discussion on all aspects of the condition.
Living in the Light
Living in the Light™ is a patient advocacy initiative producing unique and engaging 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 is a 501(c)(3) non-profit US tax-exempt organization. We were formed in May 2001 to serve families throughout the world affected by metachromatic leukodystrophy (MLD), a terminal genetic disease.
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.
NORD, a 501(c)(3) organization, is a patient advocacy organization dedicated to individuals with rare diseases and the organizations that serve them. NORD, along with its more than 300 patient organization members, is committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and patient services.
NTSAD (National Tay-Sachs & Allied Diseases Association)
NTSAD’s mission is to lead 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. Our vision is that we will accomplish our mission by funding global cutting edge research, by helping to provide families with compassionate care and support, and by collaborating effectively with the healthcare community to achieve our goals.
2022 Diamond Exhibitors
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 Genzyme focuses on developing specialty treatments for debilitating diseases that are often difficult to diagnose and treat, providing hope to patients and their families.
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.
2022 Platinum Exhibitors
Chiesi Global Rare Diseases
Chiesi Global Rare Diseases is a business unit of the Chiesi Group established in February 2020 and focused on research and development of treatments for rare and ultra-rare disorders. The Global Rare Diseases unit works in collaboration with Chiesi Group to harness the full resources and capabilities of our global network to bring innovative new treatment options to people living with rare diseases, many of whom have limited or no treatments available. The unit is also a dedicated partner with global leaders in patient advocacy, research and patient care.
At Spark Therapeutics, we are committed to developing potential gene therapies for serious genetic diseases and bringing those investigational therapies to patients. One of our areas of research is Pompe disease, a lysosomal storage disorder and neuromuscular disease resulting from a mutation in the acid alpha-glucosidase (GAA) gene. Our founders and members of our scientific team have devoted decades to the research of gene therapies with the goal of making these investigational, potential one-time treatments a reality. Spark Therapeutics is a member of the Roche Group.
2022 Gold Exhibitors
AllStripes Research Inc.
AllStripes is a healthcare technology company dedicated to unlocking new treatments for people affected by rare diseases. AllStripes’ technology platform generates regulatory-ready evidence to accelerate rare disease research and drug development, and empowers patients and families to securely participate in treatment research online and benefit from their own medical data.
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 75 countries have trusted in ARCHIMEDlife.
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 three gene therapy modalities: gene replacement, exon skipping gene therapy, and vectorized RNA knockdown and will also advance additional Astellas gene therapy programs toward clinical investigation. We are based in San Francisco, with manufacturing and laboratory facilities in South San Francisco and Sanford, North Carolina.
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. These conditions are often inherited, difficult to diagnose, progressively debilitating, have few, if any, treatment options, and are usually ignored.
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 45-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.
Orchard Therapeutics is a global gene therapy leader dedicated to transforming the lives of people affected by rare diseases through the development of innovative, potentially curative gene therapies. Our ex vivo autologous gene therapy approach harnesses the power of genetically modified blood stem cells and seeks to correct the underlying cause of disease in a single administration.
At Passage Bio, we are on a mission to provide life-transforming genetic medicines for patients with CNS diseases that replace their suffering with boundless possibility, all while building lasting relationships with the communities we serve. Based in Philadelphia, PA, our company has established a strategic collaboration and licensing agreement with the renowned University of Pennsylvania’s Gene Therapy Program to conduct our discovery and IND-enabling preclinical work.
Taysha Gene Therapies
Taysha Gene Therapies is on a mission to eradicate monogenic CNS disease. We have combined our team’s experience in gene therapy drug development with the world-class UT Southwestern Gene Therapy Program to build an extensive, fully integrated AAV9 gene therapy pipeline with a goal of dramatically improving patients’ lives.
Ultragenyx Pharmaceutical Inc.
Ultragenyx is a biopharmaceutical company committed to bringing to patients novel products for the treatment of serious rare and ultra-rare genetic diseases. The company has built a diverse portfolio of approved therapies and product candidates aimed at addressing diseases with high unmet medical need and clear biology for treatment, for which there are typically no approved therapies treating the underlying disease.
4DMT is a clinical-stage company harnessing the power of directed evolution for targeted gene therapies. 4DMT seeks to unlock the full potential of gene therapy using its platform, Therapeutic Vector Evolution, which combines the power of directed evolution with approximately one billion synthetic capsid sequences to invent evolved vectors for use in targeted gene therapy products. The company is initially focused in three therapeutic areas: ophthalmology, cardiology and pulmonology.
Aceragen is a biopharmaceutical company addressing rare, orphan diseases. We strive to develop novel therapies to have a positive impact on the lives of patients and families. Providing rare-disease patients with compelling therapeutic options enabling them to live the fullest lives possible is our goal.
At Aeglea, we believe that every patient deserves a chance at a better life. We are committed to helping people with rare and devastating metabolic diseases who have limited treatment options because having a rare disease doesn’t mean that you are in this fight alone.
AVROBIO Our vision is to bring personalized gene therapy to the world. We aim to prevent, halt or reverse disease throughout the body with a single dose of gene therapy designed to drive durable expression of therapeutic protein, even in hard-to-reach tissues and organs including brain, muscle and bone.
Azafaros is a clinical-stage Biotech start-up, founded in 2018 by experienced industry professionals and scientists aspiring 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.
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).
European GD Network Charitable Foundation
We encourage hematologists to join us in our goal to reduce patient risks associated with GD. Prompt recognition and management is required but major barriers to early diagnosis are a lack of disease awareness, overlooking mild early signs of GD, and a failure to consider GD as a diagnostic differential.
Freeline is a clinical–stage biotechnology company developing transformative AAV 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. (NASDAQ: FIXX) is a clinical-stage genetic medicines company harnessing its broad and proprietary dual in vivo gene therapy and nuclease-free gene editing platform into potential one-time treatments for the rare disease community.
Idorsia Pharmaceuticals Ltd
The purpose of Idorsia is to discover, develop and commercialize innovative medicines to help more patients. We have more ideas, we see more opportunities and we want to transform the horizon of therapeutic options.
To achieve this, we will develop Idorsia into a leading biopharmaceutical company, with a strong scientific core.
Igenomix is a world leader in converting genetic information into actionable results. Our clinical experience, cutting-edge technology, and emphasis on research and development puts us as at the forefront of integrating genomics into precision medicine. We provide specialists with the information, tools, and support they need to make the best decisions for their patients.
Lysosomal & Rare Disorder Research & Treatment Center
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. We provide comprehensive medical care and consultation for individuals with various LSDs nationwide and internationally. Our center serves as a platform for patients and families affected by these debilitating disorders.
M6P Therapeutics (M6PT) is a privately held, venture-backed biotechnology company developing the next-generation of targeted recombinant enzyme and gene therapies for lysosomal disorders. M6PT’S proprietary S1S3 co-expression platform has the unique ability to enhance phosphorylation of lysosomal enzymes for both recombinant enzyme and gene therapies, leading to improved biodistribution and cellular uptake of recombinant proteins and efficient cross-correction of gene therapy products.
Neurogene Inc. is a company focused on developing genetic medicines for neurological diseases. Our programs use adeno-associated virus (AAV) vector-based gene therapy technology to deliver a normal gene to patients with a dysfunctional gene. We partner with leading academic researchers, patient advocacy organizations and caregivers to bring therapies to patients that address the underlying genetic cause of a broad spectrum of neurological diseases where no effective treatment options currently exist.
Orphazyme is a late-stage biopharmaceutical company active in the field of rare diseases. Orphazyme is headquartered in Denmark with operations in the U.S. and Switzerland.
Paradigm Biopharmaceuticals is a late-stage drug development company headquartered in Melbourne, Australia with offices in Europe and the US.
Paradigm’s primary mission is to develop and commercialise pentosan polysulfate sodium for the treatment of pain associated with musculoskeletal disorders driven by injury, inflammation, ageing, degenerative disease, infection or genetic predisposition.
About Pfizer: Breakthroughs That Change Patients’ Lives. At Pfizer, we apply science and our global resources to bring therapies to people that extend and significantly improve their lives. We strive to set the standard for quality, safety and value in the discovery, development and manufacture of health care products, including innovative medicines and vaccines.
Rare Disease Data Trust (RDDT)
RDDT is an innovative, high-value, low-risk data commercialization model that applies the best technology (AI & ML) to the best data (EHR) to search for rare disease patterns. RDDT enables Providers to rescue these most vulnerable patients from their diagnostic odyssey and realize revenue potential that is estimated to exceed the national top 8 surgical procedures combined
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.
SEI Healthcare, a global professional Independent Medical Education organization Established in 2007, SEI Healthcare is committed to bringing medical education tothe forefront of innovation on a global scale. Their core platform, HowITreat.MD allows HCP’s unlimited free access to the latest information and breakthroughs in a manner that is exciting and engaging. Howitreat.MD allows HCPs to access world-renowned experts across 27 therapeutic specialties in a fluid and interactive manner. While the core element of case-based learning is seen throughout the platform, omni-channel formats that include engaging videos, podcasts, journals, webinars and live interactive workshops ensure healthcare professionals can engage in their preferred medium.
Sigilon Therapeutics is a clinical- stage biotechnology company pioneering a new class of therapeutics and seeking to develop functional cures for patients with chronic diseases such as lysosomal diseases through its proprietary Shielded Therapeutics™ platform. The platform has cells producing proteins while being protected by a biomaterials matrix designed to shield them from the immune system.
Travere Therapeutics is a biopharmaceutical company dedicated to identifying, developing and delivering life-changing therapies to people living with rare disease.