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

Analytical Characterization of Methyl-β-Cyclodextrin for Pharmacological Activity to Reduce Lysosomal Cholesterol Accumulation in Niemann-Pick Disease Type C1 Cells.
 

Author(s): Rong Li, Jon Hao, Hideji Fujiwara, Miao Xu, Shu Yang, Sheng Dai, Yan Long, Manju Swaroop, Changhui Li, Mylinh Vu, Juan J Marugan, Daniel S Ory, Wei Zheng

Journal: Assay Drug Dev Technol. ;15(4):154-166.

 

Methyl-β-cyclodextrin (MβCD) reduces lysosomal cholesterol accumulation in Niemann-Pick disease type C1 (NPC1) patient fibroblasts. However, the pharmacological activity of MβCD reported by different laboratories varies. To determine the potential causes of this variation, we analyzed ...

Last Updated: 31 Dec 1969

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Rapid whole-genome sequencing identifies a novel homozygous variant associated with Niemann-Pick type C1 disease in a 7-week-old male with cholestasis.
 

Author(s): Amber Hildreth, Kristen Wigby, Shimul Chowdhury, Shareef Nahas, Jaime Barea, Paulina Ordonez, Sergey Batalov, David Dimmock, Stephen Kingsmore,

Journal:

 

Niemann-Pick type C disease (NPC; OMIM #257220) is an inborn error of intracellular cholesterol trafficking. It is an autosomal recessive disorder caused predominantly by mutations in Although characterized as a progressive neurological disorder, it can also cause cholestasis and ...

Last Updated: 31 Dec 1969

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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: 31 Dec 1969

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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: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Study of IV VTS-270 for Infantile Liver Disease Associated With Niemann-Pick Disease, Type C
 

Status: Recruiting

Condition Summary: Niemann-Pick Disease, Type C

 

Last Updated: 22 May 2018

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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: 21 Mar 2018

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

Status: Recruiting

Condition Summary: Niemann-Pick Disease, Type C1

 

Last Updated: 13 Apr 2018

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