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 {72:Vance, 2006)}. Historically, {18: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

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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 18 free, full-text research articles on human participants. First 3 results:

Restarting stalled autophagy a potential therapeutic approach for the lipid storage disorder, Niemann-Pick type C1 disease.
 

Author(s): Sovan Sarkar, Dorothea Maetzel, Viktor I Korolchuk, Rudolf Jaenisch

Journal: Autophagy. 2014 Jun;10(6):1137-40.

 

Autophagy is essential for cellular homeostasis and its dysfunction in human diseases has been implicated in the accumulation of misfolded protein and in cellular toxicity. We have recently shown impairment in autophagic flux in the lipid storage disorder, Niemann-Pick type C1 (NPC1) ...

Last Updated: 2 Jun 2014

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Olfactory deficits in Niemann-Pick type C1 (NPC1) disease.
 

Author(s): Marina Hovakimyan, Anja Meyer, Jan Lukas, Jiankai Luo, Volker Gudziol, Thomas Hummel, Arndt Rolfs, Andreas Wree, Martin Witt

Journal:

 

Niemann-Pick type C disease (NPC) is a rare autosomal recessive lipid storage disease characterized by progressive neurodegeneration. As only a few studies have been conducted on the impact of NPC on sensory systems, we used a mutant mouse model (NPC1(-/-)) to examine the effects ...

Last Updated: 6 Jan 2014

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Altered transition metal homeostasis in Niemann-Pick disease, type C1.
 

Author(s): Ya Hui Hung, Noel G Faux, David W Killilea, Nicole Yanjanin, Sally Firnkes, Irene Volitakis, George Ganio, Mark Walterfang, Caroline Hastings, Forbes D Porter, Daniel S Ory, Ashley I Bush

Journal: Metallomics. 2014 Mar;6(3):542-53.

 

The loss of NPC1 protein function is the predominant cause of Niemann-Pick type C1 disease (NP-C1), a systemic and neurodegenerative disorder characterized by late-endosomal/lysosomal accumulation of cholesterol and other lipids. Limited evidence from post-mortem human tissues, an ...

Last Updated: 27 Feb 2014

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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

Hydroxypropyl Beta Cyclodextrin for Niemann-Pick Type C1 Disease
 

Status: Recruiting

Condition Summary: Niemann-Pick Disease, Type C1

 

Last Updated: 28 Apr 2015

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A Prospective Non-therapeutic Study in Patients Diagnosed With Niemann-Pick Disease Type C
 

Status: Not yet recruiting

Condition Summary: Niemann-Pick Disease, Type C

 

Last Updated: 12 Jun 2015

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Phase 1/2 Study of Vorinostat Therapy in Niemann-Pick Disease, Type C1
 

Status: Recruiting

Condition Summary: Neimann-Pick Disease

 

Last Updated: 9 Apr 2015

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