title: Fostering collaborative research for rare genetic disease: the example of niemann-pick type C disease.
abstract: Rare disease represents one of the most significant issues facing the medical community and health care providers worldwide, yet the majority of these disorders never emerge from their obscurity, drawing little attention from the medical community or the pharmaceutical industry. The challenge therefore is how best to mobilize rare disease stakeholders to enhance basic, translational and clinical research to advance understanding of pathogenesis and accelerate therapy development. Here we describe a rare, fatal brain disorder known as Niemann-Pick type C (NPC) and an innovative research collaborative known as Support of Accelerated Research for NPC (SOAR-NPC) which illustrates one pathway through which knowledge of a rare disease and its possible treatments are being successfully advanced. Use of the "SOAR" mechanism, we believe, offers a blueprint for similar advancement for many other rare disorders.
authors.affiliation: Dominick P. Purpura Department of Neuroscience, Rose F. Kennedy Intellectual and Developmental Disabilities Research Center, Albert Einstein College of Medicine, 1410 Pelham Parkway South, Bronx, NY, 10461, USA. Steve.Walkley@einstein.yu.edu.
authors.forename: Steven U
authors.initials: SU
authors.lastname: Walkley
authors.affiliation: Dominick P. Purpura Department of Neuroscience, Rose F. Kennedy Intellectual and Developmental Disabilities Research Center, Albert Einstein College of Medicine, 1410 Pelham Parkway South, Bronx, NY, 10461, USA.
authors.forename: Cristin D
authors.initials: CD
authors.lastname: Davidson
authors.affiliation: Hide and Seek Foundation for Lysosomal Disease Research, 6475 East Pacific Coast Highway, Suite 466, Long Beach, CA, 90803, USA.
authors.forename: Jonathan
authors.initials: J
authors.lastname: Jacoby
authors.affiliation: Dana's Angels Research Trust, 15 East Putnam Ave., #117, Greenwich, CT, 06830, USA.
authors.forename: Philip D
authors.initials: PD
authors.lastname: Marella
authors.affiliation: Division of PreClinical Innovation, National Center for Advancing Translational Sciences, National Institutes of Health, Rockville, MD, 20850, USA.
authors.forename: Elizabeth A
authors.initials: EA
authors.lastname: Ottinger
authors.affiliation: National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, 20817, USA.
authors.forename: Christopher P
authors.initials: CP
authors.lastname: Austin
authors.affiliation: Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, DHHS, Rm 5-2571, 10CRC, 10 Center Dr, Bethesda, MD, 20892, USA.
authors.forename: Forbes D
authors.initials: FD
authors.lastname: Porter
authors.affiliation: Department of Clinical Studies, School of Veterinary Medicine, University of Pennsylvania, 3800 Spruce Street, Philadelphia, PA, 19104, USA.
authors.forename: Charles H
authors.initials: CH
authors.lastname: Vite
authors.affiliation: Diabetic Cardiovascular Disease Center, Washington University School of Medicine, Box 8086, 660 S. Euclid Ave, St. Louis, MO, 63110, USA.
authors.forename: Daniel S
authors.initials: DS
authors.lastname: Ory
mesh_terms: D003299:Cooperative Behavior; D003505:Cyclodextrins; D006801:Humans; D052556:Niemann-Pick Disease, Type C; D035583:Rare Diseases; D057170:Translational Research, Biomedical / Q000379:methods
chemical_list: D003505:Cyclodextrins
keywords: Collaborative science; Cyclodextrin; Drug pipeline; Lysosomal disease; Miglustat; Niemann-Pick C; Patient advocacy; Rare disease; Therapy development; Translational medicine