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. BDSRA is now the largest support and research organization dedicated to Batten disease in North America.

Cure GM 1 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.

Fabry International Network

The primary aim of The Fabry International Network (FIN) is to facilitate collaboration between Patient Organisations to support those affected by Fabry Disease. It seeks to do this primarily through enabling communication, promoting good practices and acting as an independent forum for Fabry Associations. FIN is connected to over 52 countries and 64 Patient Associations around the world. Membership is free and open to any National Patient Organisation in which Fabry patients are represented.

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.

United MSD Foundation

The United MSD Foundation was established to cure Multiple Sulfatase Deficiency (MSD), an ultra-rare lysosomal storage disorder that typically claims the lives of children before they are ten years old. With a promising Gene Therapy approach, our organization is raising the necessary funds for the first-ever MSD Phase One Clinical Trial.


Amicus Therapeutics

Amicus Therapeutics is a global, patient-dedicated biotechnology company focused on discovering, developing and delivering novel high-quality medicines for people living with rare metabolic diseases. With extraordinary patient focus, Amicus Therapeutics is committed to advancing and expanding a robust pipeline of cutting-edge, first- or best-in-class medicines for rare metabolic diseases.

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.

Sanofi Genzyme

Sanofi Genzyme, the specialty care global business unit of Sanofi, focuses on rare diseases, rare blood disorders, multiple sclerosis, oncology, and immunology. We help people with debilitating and complex conditions that are often difficult to diagnose and treat. Our approach is shaped by our experience developing highly specialized treatments and forging close relationships with physician and patient communities. We are dedicated to discovering and advancing new therapies, providing hope to patients and their families around the world.

Takeda Pharmaceuticals

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 30+ years we’ve been working to support them in their fight.


Audentes Therapeutics, an Astellas Company

Audentes Therapeutics, an Astellas company, is developing genetic medicines for life-threatening diseases. We are committed to bringing transformative treatments to patients living with serious, rare neuromuscular conditions as rapidly as possible. Audentes serves as the Astellas Center of Excellence for adeno-associated viruses (AAV) based genetic therapies. Our investigational therapies target rare diseases through three modalities: gene replacement, exon skipping gene therapy and vectorized RNA knockdown.

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.


Orphazyme is pioneering the Heat-Shock Protein response to develop innovative therapies for neurodegenerative orphan diseases. Arimoclomol, our lead candidate, is in development for four diseases: Niemann-Pick disease Type C (NPC), Gaucher Disease, Inclusion Body Myositis (IBM), and Amyotrophic Lateral Sclerosis (ALS).


Orchard Therapeutics

Orchard Therapeutics transforms the lives of patients with rare diseases through innovative gene therapies.

Spark Therapeutics

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.

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.



At Asklepios BioPharmaceutical (AskBio), we are making history with every clinical advancement and aspire to turn hope into cures by unraveling new possibilities for genetic medicine. We are headquartered in Research Triangle Park, North Carolina, a thriving biotechnology hub with nearly 600 life science companies, and have additional research and development facilities in Edinburgh, Scotland, and Paris, France, and gene therapy manufacturing in San Sebastian, Spain.


CENTOGENE is the global rare disease company − passionately transforming clinical, genetic, and multiomic data into medical insights. Founded in Germany, with U.S. headquarters in Boston-Cambridge/MA and operations around the world, CENTOGENE constantly delivers the broadest portfolio of cutting-edge platforms for human genetics solutions.

Denali Therapeutics

Denali Therapeutics Inc. is a biotechnology company developing drug candidates engineered to cross the blood-brain barrier (BBB) for neurodegenerative diseases. We are committed to advancing new potential treatments for lysosomal disorders that affect the brain, starting with DNL310, our investigational IV enzyme replacement for Hunter syndrome.


Freeline is a clinical-stage, fully integrated, next generation, systemic AAV-based gene therapy company with the ambition of transforming the lives of patients suffering from inherited systemic debilitating diseases.

Forge Biologics

Forge is a hybrid gene therapy company advancing an AAV pipeline and providing CDMO manufacturing. Forge’s lead program, FBX-101 is an AAV gene therapy for Krabbe disease. FBX-101 will be entering clinical trials in 2021.

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 bring more, innovative medicines to patients. We have more ideas, we see more opportunities and we want to help more patients. In order to achieve this, we will develop Idorsia into one of Europe’s leading biopharmaceutical companies, with a strong scientific core. Located near Basel, Switzerland – a bona fide European biotech hub – Idorsia is specialized in the discovery and development of small molecules to provide innovative therapeutic possibilities.


Invitae’s mission is to bring comprehensive genetic information into mainstream medical practice to improve the quality of healthcare for billions of people. Our goal is to aggregate most of the world’s genetic tests into a single service with higher quality, faster turnaround time and lower prices.

JCR Pharmaceuticals Co., Ltd.

JCR Pharmaceuticals Co., Ltd. (TSE 4552) is a global specialty pharmaceuticals company that is redefining expectations and expanding possibilities for people with rare and genetic diseases worldwide. We continue to build upon our 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.

Passage Bio

At Passage Bio, we are on a mission to provide life-transforming gene therapies for patients with rare, monogenic 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. This provides our team with unparalleled access to a broad portfolio of gene therapy candidates and future gene therapy innovations that we then pair with our deep clinical, regulatory, manufacturing and commercial expertise to rapidly advance our robust pipeline of optimized gene therapies into clinical testing. As we work with speed and tenacity, we are always mindful of patients who may be able to benefit from our therapies.


Pfizer Inc.: Working together for a healthier world®
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. Our global portfolio includes medicines and vaccines as well as many of the world’s best-known consumer health care products. Every day, Pfizer colleagues work across developed and emerging markets to advance wellness, prevention, treatments and cures that challenge the most feared diseases of our time. Consistent with our responsibility as one of the world’s premier innovative biopharmaceutical companies, we collaborate with health care providers, governments and local communities to support and expand access to reliable, affordable health care around the world. For more than 150 years, we have worked to make a difference for all who rely on us. We routinely post information that may be important to investors on our website at www.pfizer.com. In addition, to learn more, please visit us on www.pfizer.comand follow us on Twitter at @Pfizer and @Pfizer_News, LinkedIn, YouTube and like us on Facebook at Facebook.com/Pfizer.

QPS Austria GmbH

QPS Austria is a leading CRO for CNS drug discovery and development. The preclinical department routinely performs studies using in vitro and in vivo models for lysosomal storage and neurodegenerative diseases. Models are evaluated by behavioral, histological and biochemical readouts. The clinical department performs clinical studies of different phases.

Sigilon Therapeutics

Sigilon Therapeutics is developing functional cures for chronic diseases through its Shielded Living Therapeutics™ platform. The platform includes human cells engineered to produce the crucial proteins needed by patients living with diseases such as LSDs. The cells are protected by Sigilon’s Afibromer™ biomaterials matrix, which shields them from immune rejection.

Travere Therapeutics

Travere Therapeutics is a biopharmaceutical company dedicated to identifying, developing and delivering life-changing therapies to people living with rare disease.