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

被引：11

作者：

Walkley, Steven U. ^{[1
]}

Davidson, Cristin D. ^{[1
]}

Jacoby, Jonathan ^{[2
]}

Marella, Philip D. ^{[3
]}

Ottinger, Elizabeth A. ^{[4
]}

Austin, Christopher P. ^{[5
]}

Porter, Forbes D. ^{[6
]}

Vite, Charles H. ^{[7
]}

Ory, Daniel S. ^{[8
]}

机构：

[1] Albert Einstein Coll Med, Rose F Kennedy Intellectual & Dev Disabil Res Ctr, Dominick P Purpura Dept Neurosci, 1410 Pelham Pkwy South, Bronx, NY 10461 USA

[2] Hide & Seek Fdn Lysosomal Dis Res, 6475 East Pacific Coast Highway,Suite 466, Long Beach, CA 90803 USA

[3] Danas Angels Res Trust, 15 East Putnam Ave,117, Greenwich, CT 06830 USA

[4] NIH, Div PreClin Innovat, Natl Ctr Adv Translat Sci, Rockville, MD 20850 USA

[5] NIH, Natl Ctr Adv Translat Sci, Bethesda, MD 20817 USA

[6] Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Div Translat Med, NIH, DHHS, Rm 5-2571,10CRC,10 Ctr Dr, Bethesda, MD 20892 USA

[7] Univ Penn, Sch Vet Med, Dept Clin Sci, 3800 Spruce St, Philadelphia, PA 19104 USA

[8] Washington Univ, Sch Med, Diabet Cardiovasc Dis Ctr, Box 8086,660 S Euclid Ave, St Louis, MO 63110 USA

来源：

ORPHANET JOURNAL OF RARE DISEASES | 2016年 / 11卷

关键词：

Cyclodextrin; Collaborative science; Drug pipeline; Lysosomal disease; Miglustat; Niemann-Pick C; Patient advocacy; Rare disease; Therapy development; Translational medicine; MURINE MODEL; CHOLESTEROL; 2-HYDROXYPROPYL-BETA-CYCLODEXTRIN; ESTERIFICATION; GANGLIOSIDES; PROGRESSION; MUTATION; MOUSE; NPC1;

D O I：

10.1186/s13023-016-0540-x

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页数：11

共 37 条

[1] Genetic screening for NiemannPick disease type C in adults with neurological and psychiatric symptoms: findings from the ZOOM study [J].

Bauer, Peter ;

Balding, David J. ;

Kluenemann, Hans H. ;

Linden, David E. J. ;

Ory, Daniel S. ;

Pineda, Merce ;

Priller, Josef ;

Sedel, Frederic ;

Muller, Audrey ;

Chadha-Boreham, Harbajan ;

Welford, Richard W. D. ;

Strasser, Daniel S. ;

Patterson, Marc C. .

HUMAN MOLECULAR GENETICS, 2013, 22 (21) :4349-4356

[2] Cerebrospinal Fluid Calbindin D Concentration as a Biomarker of Cerebellar Disease Progression in Niemann-Pick Type C1 Disease [J].

Bradbury, Allison ;

Bagel, Jessica ;

Sampson, Maureen ;

Farhat, Nicole ;

Ding, Wenge ;

Swain, Gary ;

Prociuk, Maria ;

O'Donnell, Patricia ;

Drobatz, Kenneth ;

Gurda, Brittney ;

Wassif, Christopher ;

Remaley, Alan ;

Porter, Forbes ;

Vite, Charles .

JOURNAL OF PHARMACOLOGY AND EXPERIMENTAL THERAPEUTICS, 2016, 358 (02) :254-261

[3] Cyclodextrins in the treatment of a mouse model of Niemann-Pick C disease [J].

Camargo, F ;

Erickson, RP ;

Garver, WS ;

Hossain, GS ;

Carbone, PN ;

Heidenreich, RA ;

Blanchard, J .

LIFE SCIENCES, 2001, 70 (02) :131-142

[4] Niemann-Pick C1 disease gene: Homology to mediators of cholesterol homeostasis [J].

Carstea, ED ;

Morris, JA ;

Coleman, KG ;

Loftus, SK ;

Zhang, D ;

Cummings, C ;

Gu, J ;

Rosenfeld, MA ;

Pavan, WJ ;

Krizman, DB ;

Nagle, J ;

Polymeropoulos, MH ;

Sturley, SL ;

Ioannou, YA ;

Higgins, ME ;

Comly, M ;

Cooney, A ;

Brown, A ;

Kaneski, CR ;

BlanchetteMackie, EJ ;

Dwyer, NK ;

Neufeld, EB ;

Chang, TY ;

Liscum, L ;

Strauss, JF ;

Ohno, K ;

Zeigler, M ;

Carmi, R ;

Sokol, J ;

Markie, D ;

ONeill, RR ;

vanDiggelen, OP ;

Elleder, M ;

Patterson, MC ;

Brady, RO ;

Vanier, MT ;

Pentchev, PG ;

Tagle, DA .

SCIENCE, 1997, 277 (5323) :228-231

[5] Quantitative Proteomic Analysis of Niemann-Pick Disease, Type C1 Cerebellum Identifies Protein Biomarkers and Provides Pathological Insight [J].

Cologna, Stephanie M. ;

Jiang, Xiao-Sheng ;

Backlund, Peter S. ;

Cluzeau, Celine V. M. ;

Dail, Michelle K. ;

Yanjanin, Nicole M. ;

Siebel, Stephan ;

Toth, Cynthia L. ;

Jun, Hyun-sik ;

Wassif, Christopher A. ;

Yergey, Alfred L. ;

Porter, Forbes D. .

PLOS ONE, 2012, 7 (10)

[6] Chronic Cyclodextrin Treatment of Murine Niemann-Pick C Disease Ameliorates Neuronal Cholesterol and Glycosphingolipid Storage and Disease Progression [J].

Davidson, Cristin D. ;

Ali, Nafeeza F. ;

Micsenyi, Matthew C. ;

Stephney, Gloria ;

Renault, Sophie ;

Dobrenis, Kostantin ;

Ory, Daniel S. ;

Vanier, Marie T. ;

Walkley, Steven U. .

PLOS ONE, 2009, 4 (09)

[7] TYPE-C NIEMANN-PICK DISEASE - A MURINE MODEL OF THE LYSOSOMAL CHOLESTEROL LIPIDOSIS ACCUMULATES SPHINGOSINE AND SPHINGANINE IN LIVER [J].

GOLDIN, E ;

ROFF, CF ;

MILLER, SPF ;

RODRIGUEZLAFRASSE, C ;

VANIER, MT ;

BRADY, RO ;

PENTCHEV, PG .

BIOCHIMICA ET BIOPHYSICA ACTA, 1992, 1127 (03) :303-311

[8] Niemann-Pick type C disease involves disrupted neurosteroidogenesis and responds to allopregnanolone [J].

Griffin, LD ;

Gong, WH ;

Verot, L ;

Mellon, SH .

NATURE MEDICINE, 2004, 10 (07) :704-711

[9] Development of a bile acid-based newborn screen for Niemann-Pick disease type C [J].

Jiang, Xuntian ;

Sidhu, Rohini ;

Mydock-McGrane, Laurel ;

Hsu, Fong-Fu ;

Covey, Douglas F. ;

Scherrer, David E. ;

Earley, Brian ;

Gale, Sarah E. ;

Farhat, Nicole Y. ;

Porter, Forbes D. ;

Dietzen, Dennis J. ;

Orsini, Joseph J. ;

Berry-Kravis, Elizabeth ;

Zhang, Xiaokui ;

Reunert, Janice ;

Marquardt, Thorsten ;

Runz, Heiko ;

Giugliani, Roberto ;

Schaffer, Jean E. ;

Ory, Daniel S. .

SCIENCE TRANSLATIONAL MEDICINE, 2016, 8 (337)

[10]

Lakhani KR, 2010, HARVARD BUSINESS SCH, P1

← 1 2 3 4 →