Amicus Therapeutics

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


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.


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.

Takeda Pharmaceuticals Company Limited

Takeda is a global, values-based, R&D-driven biopharmaceutical leader headquartered in Japan, committed to discover and deliver life-transforming treatments, guided by our commitment to patients, our people and the planet. Takeda focuses its R&D efforts on four therapeutic areas: Oncology, Rare Genetic and Hematology, Neuroscience, and Gastroenterology (GI). We also make targeted R&D investments in Plasma-Derived Therapies and Vaccines.


Astellas Gene Therapies

Astellas Gene Therapies is an Astellas Center of Excellence developing genetic medicines with the potential to deliver transformative value for patients. Our gene therapy drug discovery process is built around innovative science, an expanding adeno-associated virus (AAV) platform, and industry leading internal manufacturing capability with a particular focus on rare diseases of the eye, CNS and neuromuscular system.

Denali Therapeutics

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

Orchard Therapeutics

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


Amgen Rare Disease

Amgen is committed to unlocking the potential of biology for patients suffering from serious illnesses by discovering, developing, manufacturing and delivering innovative human therapeutics. A biotechnology pioneer since 1980, Amgen has
reached millions of patients around the world and is developing a pipeline of medicines with breakaway potential.


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

Azafaros B.V.

Azafaros B.V. is a clinical-stage biotech company, founded in 2018 by experienced industry professionals and scientists. Our team aspires to address rare genetic lysosomal storage disorders through a pipeline of oral small molecules with disease-modifying capability. Based on molecular discoveries made at Leiden University and Amsterdam University Medical Center in the Netherlands, Azafaros’ initial objective is to develop nizubaglustat, a potential disease-modifying therapy for GM1 and GM2 gangliosidoses and Niemann-Pick Disease Type C.

BioMarin Pharmaceutical Inc.

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

Greenwood Genetic Center

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

Immusoft Corporation

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

Inozyme Pharma

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

Lysosomal & Rare Disorders Research & Treatment Center (LDRTC)

The Lysosomal & Rare Disorders Research & Treatment Center was founded in 2013 by Dr. Ozlem Goker-Alpan with a vision to provide high-quality care for individuals with lysosomal storage diseases and other rare genetic disorders.

Mirum Pharmaceuticals

Mirum Pharmaceuticals are committed to developing safe and effective therapies for people with rare diseases. Ultimately, we want to help patients and their families experience a bright future.

Multicare Pharma

Multicare Pharmaceuticals is a company dedicated to importing, exporting, and licensing innovative medicines to serve patients facing rare or complex diseases in Brazil. In addition to its work with rare diseases, the company also develops projects for foreign companies, whether or not installed in Brazil, that need a customized services platform with the objective of obtaining an effective participation in the national pharmaceutical market.

Passage Bio

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

Pearson Clinical Assessment

Pearson offers a breadth of assessments to help educators assess a student’s understanding, evaluate learning needs, check progress, and personalize an education path to college and career readiness.

QPS Holding, LLC

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


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

Worldwide Clinical Trials

Worldwide Clinical Trials (Worldwide) is a leading full-service global contract research organization (CRO) that works in partnership with biotechnology and pharmaceutical companies to create customized solutions that advance new medications – from discovery to reality.

Zevra Therapeutics

Zevra Therapeutics is a rare disease company melding science, data, and patient need to create transformational therapies for diseases with limited or no treatment options. With unique, data-driven clinical, regulatory, and commercialization strategies, the Company is overcoming complex drug development challenges to bring much-needed therapies to patients.


Cure Sanfilippo Foundation

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

Gaucher Community Alliance

The GCA’s mission is to help those affected with all types of Gaucher disease live their fullest lives possible. We support patients and their families through peer-to-peer support and education, advocacy, patient and family resources, and networking. We hope to ensure that no families shall face this disease alone.

Global Genes

Global Genes is dedicated to eliminating the burdens and challenges of rare diseases for patients and families. In pursuit of our mission, we connect, empower, and inspire the rare disease community to become more effective on their own behalf ⁠— activating innovation, build capacity and drive progress across rare diseases.

International Niemann Pick Disease Alliance

The International Niemann Pick Disease Alliance (INPDA) is a global network of non-profit organisations, supporting persons affected by Niemann Pick diseases (NPD).  The alliance was formed in 2009 to provide a forum for patient groups and professionals working in the field of NPD.

International Sanfilippo Syndrome Alliance

The International Sanfilippo Syndrome Alliance is a global collaboration committed to the rapid delivery of benefits and solutions for individuals with Sanfilippo syndrome and their families. The founding members of the Alliance are eleven organisations from ten countries who are working together on research initiatives and advocacy to create a stronger, united voice focused on Sanfilippo syndrome.

Living in the Light of Rare Diseases

Living in the Light™ is a patient advocacy initiative producing unique and engaging photo, video and written content that educates the biotech industry and medical communities about the realities of rare and chronic diseases, and the profound effect they have on families and daily life.

MLD Foundation

MLD Foundation has been serving families with Metachromatic Leukodystrophy for over 22 years. Our mission is we C.A.R.E.® – facilitating Compassion for families, increasing Awareness, influencing Research, and promoting Education about MLD. Besides helping families we are currently working to make MLD newborn screening a reality along with access/reimbursement.

National MPS Society

The National MPS Society exists to cure, support, and advocate for MPS and ML.

National Organization for Rare Disorders

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

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

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

Pompe Support Network

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

The Assistance Fund

The Assistance Fund (TAF) is an independent charitable patient assistance organization that helps patients and families facing high medical out-of-pocket costs by providing financial assistance for their copayments, coinsurance, deductibles, and other health-related expenses. We currently manage nearly 90 disease programs, each of which covers all FDA-approved treatment for the disease named in the program.

United MSD Foundation

Founded in 2016, United MSD Foundation is a registered 501(c)(3) nonprofit serving an international community of Multiple Sulfatase Deficiency families, researchers, and care providers. We exist to bring awareness to MSD, fund research toward treatment, and support families through education, resources, and community.