Amicus Therapeutics

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


We are an innovative global healthcare company, driven by one purpose: we chase the miracles of science to improve people’s lives. Our team, across some 100 countries, is dedicated to transforming the practice of medicine by working to turn the impossible into the possible. We provide potentially life-changing treatment options and life-saving vaccine protection to millions of people globally, while putting sustainability and social responsibility at the center of our ambitions.

Takeda Pharmaceutical Company Limited

Takeda is a patient-focused, values-based, R&D-driven global biopharmaceutical company; our passion and pursuit of potentially life-changing treatments are rooted in our history. We know patients with rare diseases have spent their lives overcoming challenges. That’s why for 70+ years we’ve been working to support them in their fight.


Chiesi Global Rare Diseases

Chiesi Global Rare Diseases is a business unit of the Chiesi Group established in February 2020 and focuses on research and development of treatments for rare and ultra-rare disorders. The unit is also a dedicated partner with global leaders to patient advocacy, research and patient care.

JCR Pharmaceuticals Co., Ltd.

JCR Pharmaceuticals Co., Ltd. (TSE 4552) is a global specialty pharmaceuticals company that is redefining expectations and expanding possibilities for people with rare and genetic diseases worldwide. We continue to build upon our 47-year legacy in Japan while expanding our global footprint into the US, Europe, and Latin America. We improve patients’ lives by leveraging our expertise in manufacturing and R&D to advance medicine. Our core values – reliability, confidence, and persistence – benefit all our stakeholders, including employees, partners, and patients. Together we soar.


4D Molecular Therapeutics (4DMT)

4DMT is a genetic medicines company with a transformative discovery platform—Therapeutic Vector Evolution—that enables our “disease first” approach to product discovery and development, thereby allowing us to customize our AAV vectors to target specific tissue types associated with the underlying disease.

Astellas Gene Therapies

Astellas Gene Therapies is an Astellas Center of Excellence developing genetic medicines with the potential to deliver transformative value for patients. Based on an innovative scientific approach and industry leading internal manufacturing capability and expertise, we are currently exploring various gene therapy modalities, including gene replacement. We are based in San Francisco, California with manufacturing and laboratory facilities in South San Francisco, California and Sanford, North Carolina.

BioMarin Pharmaceutical

BioMarin is a world leader in developing and commercializing innovative therapies for rare diseases driven by genetic causes. With a 20+ year history, BioMarin remains steadfast to its original mission—to bring new treatments to market that will make a big impact on small patient populations. Visit www.biomarin.com to learn more.

Orchard Therapeutics

At Orchard Therapeutics, our vision is to end the devastation caused by genetic and other severe diseases. We aim to do this by discovering, developing and commercializing new treatments that tap into the curative potential of hematopoietic stem cell (HSC) gene therapy.

Passage Bio

Passage Bio (Nasdaq: PASG) is a clinical-stage genetic medicines company on a mission to provide life-transforming therapies for patients with CNS diseases with limited or no approved treatment options. Our portfolio spans pediatric and adult CNS indications, and we are currently advancing clinical programs in GM1 gangliosidosis and frontotemporal dementia and our preclinical pipeline, including programs in amyotrophic lateral sclerosis and Huntington’s disease. 


Ultragenyx is a biopharmaceutical company committed to bringing novel therapies to patients for the treatment of serious rare and ultra-rare genetic diseases. The company has built a diverse portfolio of approved medicines and treatment candidates aimed at addressing diseases with high unmet medical need and clear biology, for which there are typically no approved therapies treating the underlying disease.


Aeglea BioTherapeutics

Aeglea specializes in rare metabolic disorders, developing novel medicines to bring better balance to the lives of patients and families battling these devastating diseases.


ARCHIMEDlife is an innovative and dynamic Medical Laboratory providing high quality, specialized diagnostic services for Rare Diseases, located in Vienna, Austria. The company is committed to helping physicians and their patients avoid diagnostic odysseys by delivering leading-edge, rapid services. More than 20,000 physicians in 80 countries have trusted in ARCHIMEDlife.


Azafaros is a clinical-stage biotech start-up, founded in 2018 by experienced industry professionals and scientists. We aspire to address rare genetic lysosomal storage disorders through a pipeline of oral small molecules with disease-modifying capability. Based on discoveries from Leiden University and Amsterdam University Medical Center in the Netherlands, Azafaros’ initial objective is to develop a potential disease-modifying therapy for GM1 and GM2 gangliosidoses and Niemann Pick C.

Denali Therapeutics

Denali is a biotechnology company developing drug candidates engineered to cross the blood-brain barrier (BBB) for neurodegenerative diseases. Our scientific strategy is guided by three overarching principles: 1) genetic pathway potential; 2) engineering brain delivery; and 3) biomarker-driven clinical development. We are committed to advancing new potential treatments for lysosomal disorders that affect the brain, starting with DNL310, our investigational IV enzyme replacement therapy for Hunter syndrome (MPS II).

Freeline Therapeutics

Freeline Therapeutics is a clinical-stage biotechnology company developing transformative gene therapies for people with inherited systemic debilitating diseases.

Greenwood Genetic Center

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

Homology Medicines, Inc.

Homology Medicines, Inc. is a clinical-stage genetic medicines company dedicated to transforming the lives of patients suffering from rare diseases by addressing the underlying cause of the disease. Homology believes its initial clinical data and compelling preclinical data, scientific and product development expertise and broad intellectual property position the Company as a leader in genetic medicines.

Horizon Therapeutics

Horizon is a global biotechnology company focused on the discovery, development and commercialization of medicines that address critical needs for people impacted by rare, autoimmune and severe inflammatory diseases. Our pipeline is purposeful: We apply scientific expertise and courage to bring clinically meaningful therapies to patients. We believe science and compassion must work together to transform lives.

Immusoft Corporation

Immusoft is developing a cutting-edge approach to the sustained delivery of protein therapeutics using a patient’s own cells. The approach is called Immune System Programming (ISP™). ISP entails collecting a type of the patient’s immune cells, called B cells. In response to immune stimulation, B cells can turn into a biofactory state known as a plasma cell.


Inozyme Pharma is a global leader in developing therapies for rare mineralization disorders.

KemPharm Inc

KemPharm is a biotechnology company focused on the discovery, development and commercialization of novel treatments for rare diseases. KemPharm has a diverse product portfolio, combining a clinical-stage development pipeline with NDA-stage and commercial assets.

Lysosomal & Rare Disorders Research & Treatment Center, Inc

LDRTC uses the latest research to unravel underlying disease-causing mechanisms, discover new biomarkers, and explore new therapeutic pathways and treatment options for persons suffering from lysosomal and other rare diseases.

Protalix Ltd

Protalix, a biopharmaceutical company focused on development, production and commercialization of recombinant therapeutic proteins produced by our proprietary ProCellEx® plant cell-based protein expression system. Protalix developed taliglucerase alfa for treatment of Gaucher disease. The most advanced investigational drug in our pipeline is pegunigalsidase alfa, candidate for treatment of Fabry disease.


QPS is an award winning global CRO providing discovery, preclinical and clinical drug development services since 1995. Our mission is to accelerate pharmaceutical breakthroughs across the globe by delivering custom-built research services in Toxicology, DMPK, Neuropharmacology, Preclinical and Clinical Drug Development. QPS is known for quality, standards & technical expertise.

Recordati Rare Diseases

At Recordati Rare Diseases, we focus on the few – those affected by rare diseases. They are our top priority and at the core of everything we do.


REGENXBIO Inc. is a leading clinical-stage biotechnology company seeking to improve lives through the curative potential of gene therapy using our NAV® Technology Platform. Our gene therapy product candidates are designed to deliver functional genes, enabling the production of therapeutic proteins or antibodies that are intended to impact disease.

Travere Therapeutics

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

Worldwide Clinical Trials

Worldwide Clinical Trials is a global, midsize CRO that provides top-performing bioanalytical and Phase I-IV clinical development services to the biotechnology and pharmaceutical industries. Our full-service clinical experience ranges from early phase and bioanalytical sciences through late phase studies, post approval, and real-world evidence.


Associação Sanfilippo Portugal

The Sanfilippo Association Portugal (ASFP) is a non-profit organization dedicated to encourage and support research programs in Sanfilippo syndrome (MPS III) leading to the implementation of future therapeutics and to disclose appropriate information related to the disease.

Cure GM1 Foundation

The CURE GM1 FOUNDATION’s mission is to fund research for the benefit of all those who suffer from GM1 gangliosidosis. This nonprofit organization was founded by parents of children who suffer from GM1 who seek to save the lives of all those who suffer from this wretched condition. The Cure GM1 Foundation is dedicated to directly funding research for a cure for GM1 gangliosidosis – a lysosomal storage disease that attacks the brain and spinal cord. Over 50% of those impacted die before their fifth birthday. GM1 is a progressive and degenerative condition with an extremely broad and debilitating array of symptoms and complications.

Cure Sanfilippo Foundation

Cure Sanfilippo Foundation is a 501c3 nonprofit with a mission to advocate for and fund research directed toward a cure or treatment options for children with Sanfilippo syndrome.

Gaucher Community Alliance

The Gaucher Community Alliance is a peer-to-peer patient support organization for those affected with neuronopathic and non-neuronopathic Gaucher disease to help them live their fullest lives possible. We support patients and families through peer-to-peer networking, support and education; government and legislative advocacy; and patient and family resources.

International Gaucher Alliance

We are a global patient umbrella organization (registered charity) representing the Global Gaucher patient community.

Living in the Light of Rare Diseases

Living in the Light™ is a patient advocacy initiative producing unique and engaging photo, video and written content that educates the biotech industry and medical communities about the realities of rare and chronic diseases, and the profound effect they have on families and daily life. At Living in the Light, we are driven by our mission: empowering families and individuals affected by rare and chronic diseases to be seen and heard as they relay their stories and advocate for their needs.

MLD Foundation

MLD Foundation is the oldest and most experienced advocacy group dealing with Metachromatic Leukodystrophy. Our mission is we C.A.R.E. – facilitating Compassion and support for those affected with MLD, increasing Awareness of MLD, influencing Research, and promoting Education. Our current main focuses beyond helping and supporting newly diagnosed families and others on the MLD journey are applying to the Recommended Unified Screening Panel (RUSP) to make MLD newborn screening a given in all the states and working on access and reimbursement for rare diseases especially gene therapies.

National MPS Society

The National MPS Society exists to find cures for MPS and ML. We provide hope and support for affected individuals and their families through research, advocacy and awareness of these devastating diseases.

National Organization for Rare Disorders

NORD’s mission is to drive public policy, accelerate research and improve care for people living with rare diseases.

National Tay-Sachs & Allied Diseases Assoc. (NTSAD)

National Tay-Sachs & Allied Diseases Association (NTSAD) leads the worldwide fight to treat and cure Tay-Sachs, Canavan, GM1, and Sandhoff diseases by driving research, forging collaboration, and fostering community. Supporting families is the center of everything we do.

Pompe Support Network

We are run by, and for, members of the Pompe community. As members of the UK LSD Collaborative and the International Pompe Association, we Influence research into safe, effective and affordable therapies, advocate for access to therapies and medical devices, share experiences and projects to improve physical and mental wellbeing.