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Orphanet J Rare Dis. 2016 Dec 1;11(1):161.

Fostering collaborative research for rare genetic disease: the example of niemann-pick type C disease.

Author information

1
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.
2
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.
3
Hide and Seek Foundation for Lysosomal Disease Research, 6475 East Pacific Coast Highway, Suite 466, Long Beach, CA, 90803, USA.
4
Dana's Angels Research Trust, 15 East Putnam Ave., #117, Greenwich, CT, 06830, USA.
5
Division of PreClinical Innovation, National Center for Advancing Translational Sciences, National Institutes of Health, Rockville, MD, 20850, USA.
6
National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, 20817, USA.
7
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.
8
Department of Clinical Studies, School of Veterinary Medicine, University of Pennsylvania, 3800 Spruce Street, Philadelphia, PA, 19104, USA.
9
Diabetic Cardiovascular Disease Center, Washington University School of Medicine, Box 8086, 660 S. Euclid Ave, St. Louis, MO, 63110, USA.

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.

KEYWORDS:

Collaborative science; Cyclodextrin; Drug pipeline; Lysosomal disease; Miglustat; Niemann-Pick C; Patient advocacy; Rare disease; Therapy development; Translational medicine

PMID:
27903269
PMCID:
PMC5131440
DOI:
10.1186/s13023-016-0540-x
[Indexed for MEDLINE]
Free PMC Article

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