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

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

A novel, highly sensitive and specific biomarker for Niemann-Pick type C1 disease.
 

Author(s): Anne-Katrin Giese, Hermann Mascher, Ulrike Grittner, Sabrina Eichler, Guido Kramp, Jan Lukas, Danielle te Vruchte, Nada Al Eisa, Mario Cortina-Borja, Forbes D Porter, Frances M Platt, Arndt Rolfs

Journal:

 

Lysosomal storage disorders (LSDs), are a heterogeneous group of rare disorders caused by defects in genes encoding for proteins involved in the lysosomal degradation of macromolecules. They occur at a frequency of about 1 in 5,000 live births, though recent neonatal screening suggests ...

Last Updated: 24 Jun 2015

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Rescue of an in vitro neuron phenotype identified in Niemann-Pick disease, type C1 induced pluripotent stem cell-derived neurons by modulating the WNT pathway and calcium signaling.
 

Author(s): Anastasia G Efthymiou, Joe Steiner, William J Pavan, Stephen Wincovitch, Denise M Larson, Forbes D Porter, Mahendra S Rao, Nasir Malik

Journal: Stem Cells Transl Med. 2015 Mar;4(3):230-8.

 

Niemann-Pick disease, type C1 (NPC1) is a familial disorder that has devastating consequences on postnatal development with multisystem effects, including neurodegeneration. There is no Food and Drug Administration-approved treatment option for NPC1; however, several potentially therapeutic ...

Last Updated: 25 Feb 2015

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Corpus callosum diffusion tensor imaging and volume measures are associated with disease severity in pediatric Niemann-Pick disease type C1.
 

Author(s): Ryan Lee, Kalyna Apkarian, Eun Sol Jung, Nicole Yanjanin, Shoko Yoshida, Susumu Mori, Jina Park, Andrea Gropman, Eva H Baker, Forbes D Porter

Journal: Pediatr. Neurol.. 2014 Nov;51(5):669-674.e5.

 

Niemann-Pick disease type C1 is a neurodegenerative lysosomal storage disorder. Without a highly effective treatment, biomarkers of severity would be beneficial for prognostication and testing new interventions. Diffusion tensor imaging has shown microstructural abnormalities in adults ...

Last Updated: 2 Dec 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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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

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

Status: Recruiting

Condition Summary: Neimann-Pick Disease

 

Last Updated: 11 May 2016

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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: 22 Aug 2016

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Screening of Niemann-Pick Disease, Type C in a Psychiatric Population
 

Status: Recruiting

Condition Summary: Psychiatric Adults Patients

 

Last Updated: 19 Jul 2016

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