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 GMI 1 Foundation

The CURE GM1 FOUNDATION’s mission is to fund research for the benefit of all those who suffer from GM1 gangliosidosis. There are no paid employees and there are extremely minimal overhead costs. 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.

Cure Sanfilippo Foundation

Cure Sanfilippo Foundation is a 501c3 nonprofit whose mission is to advocate for and fund research directed towards a cure or treatment options for children with Sanfilippo Syndrome, a rapidly degenerative and terminal disease, currently with no cure or treatment.

EveryLife Foundation for Rare Diseases

The EveryLife Foundation for Rare Diseases is dedicated to accelerating biotech innovation for rare disease treatments through science-driven public policy. We can do more with the science we already have and bring life-saving treatments to millions of people suffering from rare diseases.

Global Genes

Global Genes® is a leading rare disease patient advocacy organization. Our mission is to create a globally connected community equipped to eliminate the challenges of rare disease.  We achieve this through connecting, empowering and inspiring the rare disease community.

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.

MLD Foundation

We C.A.R.E.™ – Compassion, Awareness, Research & Education for metachromatic leukodystrophy (MLD). Global footprint.  Very active in Rare Disease policy & awareness, and newborn screening at federal, state & global levels.

National Fabry Disease Foundation

The National Fabry Disease Foundation (NFDF) is a voluntary organization whose mission is to support the Fabry disease community through education, identification, assistance, research and advocacy. Their primary function is to educate physicians, families and the public in order to help facilitate the diagnosis of Fabry disease and the offering of life-saving treatment, and to assist patients and their families in coping with Fabry 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.

National Organization of Rare Disorders (NORD)

The National Organization for Rare Disorders (NORD) is the leading nonprofit dedicated to improving the lives of patients and families with rare diseases through programs of advocacy, education, research and financial assistance services.

STAR Foundation

Star Foundation is a 501-c- 3 charity dedicated to funding Scientific Research focusing on Salla Disease, which is one of the Sialic Acid Storage Disorders.


Alexion Pharmaceuticals

Alexion is a global biopharmaceutical company focused on serving patients and families affected by rare diseases, including lysosomal acid lipase deficiency (LAL-D), through the innovation, development and commercialization of life-changing therapies.

Amicus Therapeutics, Inc.

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.

Audentes Therapeutics

Audentes Therapeutics is a biotechnology company focused on developing and commercializing gene therapy products for patients living with serious, life-threatening rare diseases. We have four product candidates in development including AT982 for the treatment of Pompe disease. We are committed to forging strong, global relationships with the patient, research and medical communities.

Bio Insight Group

At Bio Insight Group, we leverage our award-winning video and animation services with a senior team of former brand leaders to elevate the impact of your life-saving therapy. Our expertise is in rare diseases and specialty therapies and we are hired by both brand teams and Agencies of Record due to our highly specialized services and ability to make an immediate and significant impact for our clients. We operate under a sense of urgency and continue to earn new business through our expertise, accountability, and passion for helping patients living with devastating diseases.

BioMarin Pharmaceutical

BioMarin develops and commercializes innovative biopharmaceuticals for serious diseases and medical conditions. Approved products include the first and only therapies for PKU, LEMS, MPS I, MPS VI, MPS IVA, and CLN2 disease. Clinical development programs include investigational therapies for Hemophilia A, Achondroplasia, MPS IIIB, Friedreich’s Ataxia and other rare diseases.


Manufacturer of Enzyme Substrates for Laboratory use for Lysosomal Storage Diseases.

Chiesi Farmaceutici S.p.A.

Based in Parma, Italy, Chiesi Farmaceutici is an international research-focused Healthcare Group, with over 80 years of experience in the pharmaceutical industry. Chiesi researches, develops and markets innovative drugs in the respiratory therapeutics, specialist medicine and rare disease areas. Chiesi employs more than 5300 people.

Diplomat Specialty Infusion Group

Diplomat Specialty Infusion Group is a national pharmacy and home infusion/nursing services provider specializing in the delivery of enzyme replacement therapies. With pharmacy locations and nursing staff across the country, Diplomat offers the highest level of personalized care at home.


Enzyvant is a biopharmaceutical company focused on developing innovative treatments for patients with rare diseases. Enzyvant has initiated a rolling BLA submission with the FDA for RVT-802, an investigational tissue-based therapy for the treatment of primary immunodeficiency associated with complete DiGeorge Anomaly. Enzyvant is simultaneously initiating a clinical trial of RVT-801, an investigational enzyme replacement therapy for the treatment of Farber disease. Enzyvant plans to develop treatments for additional rare diseases with high unmet need.

European Gaucher Disease Network

We are establishing a multi-disciplinary team of advisors, including physicians, patients and industry, to help us assess the quality of the current treatment and care services provided by hematologists to GD patients around the globe. We are providing a trusted Online GD Resource for hematologists, patients, their families and carers.

Fairview Specialty Pharmacy

Fairview Specialty Pharmacy provides comprehensive and individualized drug therapy management for people with rare diseases. Services include care coordination of home infusion and specialty pharmacy, industry partnerships in drug development trials, limited drug distribution programs and outcomes studies.

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. Our laboratory offers biochemical, cytogenetic, and molecular testing.


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 is a specialty pharma engaged in the research, development, manufacture and marketing of biopharmaceuticals and regenerative medicine with a focus on rare diseases. Its philosophy, ”Contributing towards people’s healthcare through pharmaceutical products” drives JCR to create innovative pharmaceutical products as value-added treatment options for the under-served patient community.

Lukare Medical, LLC

Lukare Medical is a specialty pharma company that markets Elliotts B Solution (buffered intrathecal electrolyte/dextrose solution) (EBS). EBS is a diluent for the administration of intrathecal chemotherapies to help lesson the side effects. EBS is comparable to CSF in pH, electrolyte composition, glucose content and osmolarity.


Lysogene is a gene therapy company focused on the treatment of orphan CNS diseases. The company has built a unique capability to enable a safe and effective delivery of gene therapies to the CNS. A pivotal clinical trial in MPS IIIA in partnership with Sarepta Therapeutics is ongoing and a phase 1-2 clinical trial in GM1 Gangliosidosis is in preparation.

Lysosomal & Rare Disorders Research & Treatment Center (LDRTC)

LDTRC 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 Clinic Laboratories

Mayo Clinic Laboratories partners with health care organizations around the globe to help answer the most complex questions facing patients. With the most sophisticated test menu in the world, laboratory diagnostic testing and pathology services from Mayo Clinic span every medical subspecialty. We are committed to putting the needs of all patients first by focusing on providing clinically relevant answers, not just test results.

Pfizer, Inc.

At Pfizer, we apply science and our global resources to bring therapies to people that extend and significantly improve their lives. 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.

Protalix Ltd.

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 pegunigalsidase alfa, a novel enzyme replacement therapy in phase III studies for the treatment of Fabry disease and other investigational products in clinical development for inflammatory bowel disease and cystic fibrosis.

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.

Retrophin, Inc.

Retrophin is a biopharmaceutical company dedicated to delivering life-changing therapies to people living with rare diseases who have few, if any, treatment options.

Sangamo Therapeutics, Inc.

Sangamo Therapeutics, Inc. is focused on translating ground-breaking science into genomic therapies that transform patients’ lives using the company’s industry leading platform technologies in genome editing, gene therapy, gene regulation and cell therapy.

Sanofi Genzyme

Sanofi Genzyme, the specialty care global business unit of Sanofi, focuses on rare diseases, 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. Learn more at our website.

Swedish Orphan Biovitrum AB

Sobi™ is an international biopharmaceutical company dedicated to rare diseases. Our vision is to be recognised as a global leader in providing access to innovative treatments that transform lives for individuals with rare diseases. The product portfolio is primarily focused on treatments in Hemophilia, Immunology and Specialty Care.


Shire is now part of Takeda. Takeda is a global, values-based, R&D-driven biopharmaceutical leader headquartered in Japan, committed to bringing Better Health and a Brighter Future to patients by translating science into highly-innovative medicines. We focus R&D efforts on four therapeutic areas: Oncology, Gastroenterology, Neuroscience and Rare Diseases. We also make targeted R&D investments in Plasma-Derived Therapies and Vaccines.

Ultragenyx Pharmaceutical

Ultragenyx is a biopharmaceutical company committed to bringing to market novel products for the treatment of rare and ultra-rare diseases, with a focus on serious, debilitating genetic diseases. The Company has rapidly built and advanced a diverse portfolio of product candidates with the potential to address diseases for which the unmet medical need is high, the biology for treatment is clear, and for which there are no approved therapies.