The National Organization for Rare Disorders (NORD) will develop longitudinal natural history studies with 20 rare disease patient organizations to advance understanding of rare diseases and support research. The project is supported in part by a cooperative agreement with the U.S. Food and Drug Administration (FDA).
The 20 patient organizations selected to participate with NORD in this initiative are: Hereditary Neuropathy Foundation; Organic Acidemia Association; XLH Network, Inc.; CCHS Family Network; Pitt Hopkins Research Foundation; OMSLife Foundation; Platelet Disorder Support Association; Global Foundation for Peroxisomal Disorders; APS Type 1 Foundation; Scleroderma Research Foundation; Galactosemia Foundation; Desmoid Tumor Research Foundation; International Pemphigus and Pemphigoid Foundation; Morgan Leary Vaughn Fund; Adult Polyglucosan Body Disease (APBD) Research Foundation; Bridge the Gap-SYNGAP Education and Research Foundation; American Multiple Endocrine Neoplasia (AMEN) Support; Lipoprotein(a) Foundation; and Worldwide Syringomyelia & Chiari Task Force.
All diseases represented have diagnostic challenges and limited current research. The initiative will cover a broad range of diseases and medical specialties, including neurology, cardiology, immunology, and endocrinology.
The intent is to develop longitudinal studies to help medical researchers better understand how these rare diseases progress and develop over time. Rare diseases pose unique challenges to researchers and drug developers because of small patient populations, lack of data, clinical endpoints that are often unclear, and enrollment and retention challenges for clinical trials. There are nearly 7,000 diseases considered rare in the United States, 95% of which do not have approved treatments.