@article{c7dffaccaaec48c881fa0e5fc1c5a70c,
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.",
keywords = "Collaborative science, Cyclodextrin, Drug pipeline, Lysosomal disease, Miglustat, Niemann-Pick C, Patient advocacy, Rare disease, Therapy development, Translational medicine",
author = "Walkley, {Steven U.} and Davidson, {Cristin D.} and Jonathan Jacoby and Marella, {Philip D.} and Ottinger, {Elizabeth A.} and Austin, {Christopher P.} and Porter, {Forbes D.} and Vite, {Charles H.} and Ory, {Daniel S.}",
note = "Funding Information: Most of the support for the above studies on NPC disease was derived from work funded through the “classic” model of peer-reviewed investigator-initiated projects. These were largely funded through the NIH using the widely recognized “R01” and “R21” mechanisms and by private foundations such as the Ara Parseghian Medical Research Foundation (APMRF) and the National Niemann-Pick Disease Foundation (NNPDF) following review by their scientific advisory boards. Importantly, funding by these private foundations often provided critical support for high risk, high impact projects that would not have been supported via traditional funding routes, such as the NIH. Grants supported by the APMRF, for example, led directly to identification of the NPC1 gene, to improved understanding of the function of the NPC1 and NPC2 proteins and to the discovery of miglustat{\textquoteright}s ameliorative effects on NPC disease. The APMRF also provided critical support for the initiation of the NPC natural history study described earlier. Yet despite these and other important advances for NPC disease, there was also a growing realization among some parents that a critical element for progress was missing. This was the pre-clinical and clinical expertise similar to that which pharmaceutical companies would have for effectively and fully developing therapies for this fatal neurodegenerative disease. It was in this mixed atmosphere of hope and realization that a complementary approach to research support was born, one focused specifically on development of NPC1 disease therapies. Publisher Copyright: {\textcopyright} 2016 The Author(s).",
year = "2016",
month = jan,
day = "12",
doi = "10.1186/s13023-016-0540-x",
language = "English (US)",
volume = "11",
journal = "Orphanet Journal of Rare Diseases",
issn = "1750-1172",
publisher = "BioMed Central",
number = "1",
}