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Type C Niemann-Pick Disease (Niemann Pick Disease, Type C)

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An autosomal recessive lipid storage disorder that is characterized by accumulation of CHOLESTEROL and SPHINGOMYELINS in cells of the VISCERA and the CENTRAL NERVOUS SYSTEM. Type C (or C1) and type D are allelic disorders caused by mutation of gene (NPC1) encoding a protein that mediate intracellular cholesterol transport from lysosomes. Clinical signs include hepatosplenomegaly and chronic neurological symptoms. Type D is a variant in people with a Nova Scotia ancestry.

Also Known As:

Niemann Pick Disease, Type C; Niemann Pick Disease, Type D; Niemann-Pick Disease, Type C; Neurovisceral Storage Disease with Vertical Supranuclear Ophthalmoplegia; Niemann-Pick Disease Type D; Niemann-Pick Disease with Cholesterol Esterification Block; Niemann-Pick Disease without Sphingomyelinase Deficiency; Niemann-Pick Disease, Chronic Neuronopathic Form; Niemann-Pick Disease, Nova Scotian; Niemann-Pick Disease, Type C1; Niemann-Pick's Disease Type C; Niemann-Pick's Disease Type D; Nova Scotia (Type D) Form of Niemann-Pick Disease; Nova Scotia Niemann-Pick Disease (Type D); Niemann Pick Disease Type D; Niemann Pick Disease with Cholesterol Esterification Block; Niemann Pick Disease without Sphingomyelinase Deficiency; Niemann Pick Disease, Chronic Neuronopathic Form; Niemann Pick Disease, Nova Scotian; Niemann Pick Disease, Type C1; Niemann Pick's Disease Type C; Niemann Pick's Disease Type D; Nova Scotia Niemann Pick Disease (Type D); Niemann-Pick Disease, Type D

Networked: 264 relevant articles (11 outcomes, 20 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Fabry Disease (Fabry's Disease)
2.	Phenylketonurias (Phenylketonuria)
3.	Neurologic Manifestations (Neurological Manifestations)
4.	Seizures (Seizure)
5.	Cystic Fibrosis (Mucoviscidosis)

Experts

1.	Vanier, Marie T: 14 articles (01/2015 - 04/2004)
2.	Platt, Frances M: 8 articles (07/2014 - 08/2004)
3.	Patterson, Marc C: 7 articles (01/2015 - 11/2003)
4.	Porter, Forbes D: 7 articles (09/2013 - 10/2010)
5.	Ohno, Kousaku: 5 articles (09/2015 - 06/2004)
6.	Mengel, Eugen: 5 articles (01/2015 - 10/2006)
7.	Walkley, Steven U: 5 articles (11/2012 - 09/2005)
8.	Vanier, M T: 5 articles (03/2009 - 04/2000)
9.	Ninomiya, Haruaki: 5 articles (01/2009 - 06/2004)
10.	Walterfang, Mark: 4 articles (09/2015 - 01/2012)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Type C Niemann-Pick Disease:

1.	miglustat (Zavesca)FDA Link 01/01/2015 - "Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C." 01/01/2013 - "Long-term efficacy of miglustat in paediatric patients with Niemann-Pick disease type C." 09/01/2015 - "Longitudinal changes in cerebellar and subcortical volumes in adult-onset Niemann-Pick disease type C patients treated with miglustat." 03/01/2015 - "Approximately half (n = 202) had GD1, and half had other diseases (mainly Niemann-Pick disease type C (NP-C), for which miglustat was approved in Europe in 2009). " 01/01/2015 - "Twenty-five patients with Niemann Pick disease type C (age range: 7 months to 44 years) were enrolled in an Italian independent multicenter trial and treated with miglustat for periods from 48 to 96 months. "
2.	Dimethyl Sulfoxide (DMSO)FDA LinkGeneric 08/01/1988 - "Clinical improvement with DMSO treatment in a patient with Niemann-Pick disease (type C)." 12/01/1995 - "We treated patients with Niemann-Pick disease type C by oral administration of DMSO, resulting in some clinical benefits such as decreased size of hepatosplenomegaly, and lesser frequency of seizures with improved EEG. " 11/28/1989 - "Type C Niemann-Pick disease: dimethyl sulfoxide moderates abnormal LDL-cholesterol processing in mutant fibroblasts." 09/02/1988 - "Treatment with 2% DMSO caused a marked increase in sphingomyelinase activities at pH 5.0 and 7.5 in normal and Niemann-Pick disease type C cells, while in type A and B cells, both activities remained virtually unchanged after DMSO treatment. "
3.	CholesterolIBA 06/01/2001 - "NPC1-trap cells will be a useful tool to study the regulation of cellular cholesterol homeostasis and the pathogenesis of Niemann-Pick disease type C." 05/01/2015 - "Niemann-Pick disease type C (NPC) is an autosomal recessive lysosomal lipid storage disease associated with impaired intracellular cholesterol trafficking. " 01/01/2014 - "Role of ACAT1-positive late endosomes in macrophages: cholesterol metabolism and therapeutic applications for Niemann-Pick disease type C." 01/01/2014 - "Niemann-Pick disease type C (NP-C) is a rare autosomal recessive disorder of lysosomal cholesterol transport. " 01/01/2014 - "The Niemann-Pick disease, type C1 (NPC1) gene encodes a transmembrane protein involved in cholesterol efflux from the lysosome. "
4.	Biological Markers (Surrogate Marker)IBA 08/15/2012 - "Microarray expression analysis and identification of serum biomarkers for Niemann-Pick disease, type C1." 01/01/2012 - "Quantitative proteomic analysis of Niemann-Pick disease, type C1 cerebellum identifies protein biomarkers and provides pathological insight." 02/01/2009 - "A new surrogate marker for CNS pathology in Niemann-Pick disease type C?" 06/01/2011 - "Development of surrogate markers is necessary to assess the potential efficacy of new therapeutics in Niemann-Pick Disease Type C (NP-C). " 03/01/2009 - "Natural history studies, for instance, in progressive supranuclear palsy, frontotemporal dementia with parkinsonism linked to chromosome 17, corticobasal degeneration, and Niemann-Pick disease type C as well as in amyotrophic lateral sclerosis/Parkinson-dementia complex permit clinical characterization of the disease phenotypes and are crucial to the development and validation of biological markers for differential diagnostics and disease monitoring, for example, by use of neuroimaging or proteomic approaches. "
5.	Mutant Proteins (Protein, Mutant)IBA 09/01/2013 - "Ligands that bind to the folding intermediates of such mutant proteins and rescue their trafficking defects, known as pharmacological chaperones, have promise for the treatment of certain genetic diseases, including Fabry disease, cystic fibrosis, and Niemann-Pick disease type C. "
6.	LigandsIBA 09/01/2013 - "Ligands that bind to the folding intermediates of such mutant proteins and rescue their trafficking defects, known as pharmacological chaperones, have promise for the treatment of certain genetic diseases, including Fabry disease, cystic fibrosis, and Niemann-Pick disease type C. "
7.	Ibuprofen (Motrin)FDA LinkGeneric 07/01/2014 - "Improved neuroprotection using miglustat, curcumin and ibuprofen as a triple combination therapy in Niemann-Pick disease type C1 mice."
8.	CurcuminIBA 07/01/2014 - "Improved neuroprotection using miglustat, curcumin and ibuprofen as a triple combination therapy in Niemann-Pick disease type C1 mice."
9.	Acetylcysteine (Siran)FDA LinkGeneric 09/01/2013 - "Efficacy of N-acetylcysteine in phenotypic suppression of mouse models of Niemann-Pick disease, type C1."
10.	Sphingomyelin Phosphodiesterase (Sphingomyelinase)IBA 01/01/1981 - "Subsequent biochemical studies showing a slight increase of sphingomyelin in liver and normal sphingomyelinase in leukocytes supported the morphological diagnosis of Niemann-Pick disease type C. " 06/30/1992 - "Niemann-Pick disease type C (NPC) was demonstrated in two successive pregnancies by strongly reduced activity of sphingomyelinase in amniotic fluid cells. " 01/01/1991 - "The concept of Niemann-Pick disease type C as a secondary sphingomyelin storage disorder (in contrast to the sphingomyelinase-deficient types A and B) has become more and more prevalent, in view of the complex lipid storage pattern and variable sphingomyelinase activities. " 07/18/1986 - "Human lymphoid cell lines established from normal subjects and from a Niemann-Pick disease type C patient were investigated from a triple point of view of enzymology, metabolism and ultrastructure: Sphingomyelinase activities, isoenzyme electrofocusing profiles and properties of the major enzyme were quite similar in type C and normal lymphoid cell lines. " 11/01/1984 - "To stress that the storage process in Niemann-Pick disease type C is qualitatively different a comparison was made with liver findings in sphingomyelinase-deficient patients. "

Therapies and Procedures

1.	Therapeutics 06/01/2011 - "Development of surrogate markers is necessary to assess the potential efficacy of new therapeutics in Niemann-Pick Disease Type C (NP-C). "
2.	Oral Administration 12/01/1995 - "We treated patients with Niemann-Pick disease type C by oral administration of DMSO, resulting in some clinical benefits such as decreased size of hepatosplenomegaly, and lesser frequency of seizures with improved EEG. "
3.	Transplantation (Transplant Recipients) 05/01/2007 - "Herein we demonstrate that BM-MSCs are able to promote neuronal networks with functional synaptic transmission after transplantation into Niemann-Pick disease type C (NP-C) mouse cerebellum. " 06/24/2005 - "Here we show that direct transplantation of bone marrow-derived mesenchymal stem cells (BM-MSC) results in alleviation of inflammatory responses associated with the cerebellum of Niemann-Pick disease Type C (NP-C) model mice. "
4.	Lasers (Laser) 04/01/2002 - "Using delayed extraction matrix-assisted laser desorption ionization time-of-flight mass spectrometry (DE MALDI-TOF-MS), we analyzed sphingolipids in cultured skin fibroblasts from patients with sphingolipidoses, including: (a) Farber disease (FD, acid ceramidase deficiency); (b) Gaucher disease (GD); (c) Niemann-Pick disease type C (NPDC); and (d) GM1-gangliosidosis (GM1G). " 08/06/1999 - "We analyzed sphingolipids in tissues from patients with sphingolipidosis, including Farber disease (FD, acid ceramidase deficiency), Gaucher disease (GD), Niemann-Pick disease type C (NPDC), and GM1-gangliosidosis (GM1G), using delayed extraction matrix-assisted laser desorption ionization time-of-flight mass spectrometry (DE MALDI-TOF-MS). "
5.	Enzyme Replacement Therapy 10/01/2011 - "Miglustat (Zavesca®) is approved for the oral treatment of adult patients with mild to moderate type 1 Gaucher disease (GD1) for whom enzyme replacement therapy is unsuitable, and for the treatment of progressive neurological manifestations in adult and paediatric patients with Niemann-Pick disease type C (NP-C). "