Niemann-Pick disease type C1

Common Name(s)

Niemann-Pick disease type C1, Niemann-Pick Disease, Type C

Niemann-Pick type C (NPC) disease is an autosomal recessive lipid storage disorder characterized by progressive neurodegeneration. Approximately 95% of cases are caused by mutations in the NPC1 gene, referred to as type C1; 5% are caused by mutations in the NPC2 gene ({601015}), referred to as type C2 ({607625}). The clinical manifestations of types C1 and C2 are similar because the respective genes are both involved in egress of lipids, particularly cholesterol, from late endosomes or lysosomes (summary by {71:Vance, 2006}). Historically, {17:Crocker (1961)} delineated 4 types of Niemann-Pick disease: the classic infantile form (type A; {257200}), the visceral form (type B; {607616}), the subacute or juvenile form (type C), and the Nova Scotian variant (type D). Types C1 and D are indistinguishable except for the occurrence of type D in patients of Nova Scotian Acadian ancestry. Since then, types E and F have also been described (see {607616}), and phenotypic variation within each group has also been described.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Niemann-Pick disease type C1" for support, advocacy or research.

Ara Parseghian Medical Research Foundation

Ara Parseghian Medical Research Foundation, a volunteer, nonprofit corporation funds research projects searching for a treatment and cure for Niemann-Pick Type C disease.

Last Updated: 10 Jan 2013

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Niemann-Pick disease type C1" for support, advocacy or research.

Ara Parseghian Medical Research Foundation

Ara Parseghian Medical Research Foundation, a volunteer, nonprofit corporation funds research projects searching for a treatment and cure for Niemann-Pick Type C disease.

http://www.parseghian.org

Last Updated: 10 Jan 2013

View Details

 

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Niemann-Pick disease type C1" returned 26 free, full-text research articles on human participants. First 3 results:

Characterization of hydroxypropyl-beta-cyclodextrins used in the treatment of Niemann-Pick Disease type C1.
 

Author(s): Alfred L Yergey, Paul S Blank, Stephanie M Cologna, Peter S Backlund, Forbes D Porter, Allan J Darling

Journal:

 

2-Hydroxypropyl-beta-cyclodextrin (HPβCD) has gained recent attention as a potential therapeutic intervention in the treatment of the rare autosomal-recessive, neurodegenerative lysosomal storage disorder Niemann-Pick Disease Type C1 (NPC1). Notably, HPβCD formulations are not comprised ...

Last Updated: 17 Apr 2017

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Increased Regenerative Capacity of the Olfactory Epithelium in Niemann-Pick Disease Type C1.
 

Author(s): Anja Meyer, Andreas Wree, René Günther, Carsten Holzmann, Oliver Schmitt, Arndt Rolfs, Martin Witt

Journal:

 

Niemann-Pick disease type C1 (NPC1) is a fatal neurovisceral lysosomal lipid storage disorder. The mutation of the NPC1 protein affects the homeostasis and transport of cholesterol and glycosphingolipids from late endosomes/lysosomes to the endoplasmic reticulum resulting in progressive ...

Last Updated: 6 Apr 2017

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

Author(s): Allison Bradbury, Jessica Bagel, Maureen Sampson, Nicole Farhat, Wenge Ding, Gary Swain, Maria Prociuk, Patricia O'Donnell, Kenneth Drobatz, Brittney Gurda, Christopher Wassif, Alan Remaley, Forbes Porter, Charles Vite

Journal: J. Pharmacol. Exp. Ther.. 2016 Aug;358(2):254-61.

 

Niemann-Pick type C (NPC) 1 disease is a rare, inherited, neurodegenerative disease. Clear evidence of the therapeutic efficacy of 2-hydroxypropyl-β-cyclodextrin (HPβCD) in animal models resulted in the initiation of a phase I/IIa clinical trial in 2013 and a phase IIb/III trial ...

Last Updated: 13 Jul 2016

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Niemann-Pick disease type C1" returned 1 free, full-text review articles on human participants. First 3 results:

Collaborative development of 2-hydroxypropyl-β-cyclodextrin for the treatment of Niemann-Pick type C1 disease.
 

Author(s): Elizabeth A Ottinger, Mark L Kao, Nuria Carrillo-Carrasco, Nicole Yanjanin, Roopa Kanakatti Shankar, Marjo Janssen, Marcus Brewster, Ilona Scott, Xin Xu, Jim Cradock, Pramod Terse, Seameen J Dehdashti, Juan Marugan, Wei Zheng, Lili Portilla, Alan Hubbs, William J Pavan, John Heiss, Charles H Vite, Steven U Walkley, Daniel S Ory, Steven A Silber, Forbes D Porter, Christopher P Austin, John C McKew

Journal: Curr Top Med Chem. 2014 ;14(3):330-9.

 

In 2010, the National Institutes of Health (NIH) established the Therapeutics for Rare and Neglected Diseases (TRND) program within the National Center for Advancing Translational Sciences (NCATS), which was created to stimulate drug discovery and development for rare and neglected ...

Last Updated: 30 Jan 2014

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Study of Pharmacokinetics and Preliminary Efficacy in Patients With Niemann-Pick C1
 

Status: Recruiting

Condition Summary: Niemann-Pick Disease, Type C1

 

Last Updated: 24 Mar 2017

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Study of the Pharmacokinetics of Trappsol and Effects on Potential Biomarkers of Niemann-Pick C1 (NPC1)
 

Status: Recruiting

Condition Summary: Niemann-Pick Disease, Type C1

 

Last Updated: 28 Mar 2017

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Study of VTS-270 (2-hydroxypropyl-β-cyclodextrin) to Treat Niemann-Pick Type C1 (NPC1) Disease
 

Status: Recruiting

Condition Summary: Niemann-Pick Disease, Type C

 

Last Updated: 3 Jan 2017

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