Niemann-Pick disease

Common Name(s)

Niemann-Pick disease, Sphingomyelin/cholesterol lipidosis

Niemann-Pick disease is an inherited condition involving lipid metabolism, which is the breakdown, transport, and use of fats and cholesterol in the body. In people with this condition, abnormal lipid metabolism causes harmful amounts of lipids to accumulate in the spleen, liver, lungs, bone marrow, and brain. Niemann-Pick disease type A appears during infancy and is characterized by an enlarged liver and spleen (hepatosplenomegaly), failure to gain weight and grow at the expected rate (failure to thrive), and progressive deterioration of the nervous system. Due to the involvement of the nervous system, Niemann-Pick disease type A is also known as the neurological type. There is currently no effective treatment for this condition and those who are affected generally do not survive past early childhood. Niemann-Pick disease type A is caused by mutations in the SMPD1 gene. It is inherited in an autosomal recessive pattern.  
 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

National Niemann-Pick Disease Foundation, Inc.

The National Niemann-Pick Disease Foundation, Inc. (NNPDF) is an international, voluntary, nonprofit organization made up of parents, medical and educational professionals, friends, relatives and others who are interested in fighting Niemann-Pick disease.

Last Updated: 29 Apr 2014

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National Tay-Sachs & Allied Diseases Association, Inc.

The mission of the National-Tay Sachs & Allied Diseases Association is to lead the fight to treat and cure Tay-Sachs, Canavan and related genetic diseases and to support affected families and individuals in leading fuller lives.

Last Updated: 13 May 2014

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Niemann-Pick Disease Group (UK)

The aim of the Niemann-Pick Disease Group (UK) is to make a positive difference to families affected by the disease through the provision of Care, Information and Research. Care takes the form of providing a central office with a 24hour telephone help line and funding a dedicated Clinical Nurse Specialist to give support through advice, counselling, specialist clinics and advocacy. Information is provided through leaflets, newsletters, family newsbulletin, family directories, care manuals, our website and the Annual Family Conference. Research is in collaboration with other organisations and support groups. Our focus is maintained by a Research Co-ordinator and we offer an annual memorial award.

Last Updated: 12 Nov 2012

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General Support Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

National Niemann-Pick Disease Foundation, Inc.

The National Niemann-Pick Disease Foundation, Inc. (NNPDF) is an international, voluntary, nonprofit organization made up of parents, medical and educational professionals, friends, relatives and others who are interested in fighting Niemann-Pick disease.

http://www.nnpdf.org

Last Updated: 29 Apr 2014

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National Tay-Sachs & Allied Diseases Association, Inc.

The mission of the National-Tay Sachs & Allied Diseases Association is to lead the fight to treat and cure Tay-Sachs, Canavan and related genetic diseases and to support affected families and individuals in leading fuller lives.

http://www.ntsad.org

Last Updated: 13 May 2014

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Niemann-Pick Disease Group (UK)

The aim of the Niemann-Pick Disease Group (UK) is to make a positive difference to families affected by the disease through the provision of Care, Information and Research. Care takes the form of providing a central office with a 24hour telephone help line and funding a dedicated Clinical Nurse Specialist to give support through advice, counselling, specialist clinics and advocacy. Information is provided through leaflets, newsletters, family newsbulletin, family directories, care manuals, our website and the Annual Family Conference. Research is in collaboration with other organisations and support groups. Our focus is maintained by a Research Co-ordinator and we offer an annual memorial award.

http://www.niemannpick.org.uk

Last Updated: 12 Nov 2012

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General Support Organizations

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General Resources

National Niemann-Pick Disease Foundation Web site

This Web site has been developed to be a supportive and educational tool for individuals interested in learning more about Niemann-Pick Disease (NPD), and for those who have a loved one or family member diagnosed with NPD.

Updated 29 Apr 2014

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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" returned 235 free, full-text research articles on human participants. First 3 results:

Novel NPC1 mutations with different segregation in two related Greek patients with Niemann-Pick type C disease: molecular study in the extended pedigree and clinical correlations.
 

Author(s): Evangelia Bountouvi, Anna Papadopoulou, Marie T Vanier, Georgia Nyktari, Spyridon Kanellakis, Helen Michelakakis, Argyrios Dinopoulos

Journal:

 

Niemann-Pick type C disease (NPC) is an autosomal recessive, neurovisceral, lysosomal storage disorder with protean and progressive clinical manifestations, resulting from mutations in either of the two genes, NPC1 (~95% of families) and NPC2. Contrary to other populations, published ...

Last Updated: 5 May 2017

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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: 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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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" returned 31 free, full-text review articles on human participants. First 3 results:

Pulmonary manifestations in Niemann-Pick type C disease with mutations in NPC2 gene: case report and review of literature.
 

Author(s): Jayesh Sheth, Jijo John Joseph, Krati Shah, Mamta Muranjan, Mehul Mistri, Frenny Sheth

Journal:

 

Niemann-Pick disease type C (NPC) is an inherited metabolic disorder; due to defect in cellular cholesterol trafficking. It is clinically a heterogeneous disease with variable age of onset with multiple organ systems being involved. NPC1 gene is involved in 95% cases where as remaining ...

Last Updated: 18 Jan 2017

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[Research advances in diagnosis and therapy of Niemann-Pick disease type C].
 

Author(s): Shou-Chen Ren, Bao-Qin Gao

Journal: Zhongguo Dang Dai Er Ke Za Zhi. 2015 May;17(5):533-8.

 

Niemann-Pick disease type C (NPC) is an autosomal recessive lysosomal lipid storage disease associated with impaired intracellular cholesterol trafficking. A wide spectrum of clinical phenotype has been described, with a possible onset at all ages of life from the neonatal period ...

Last Updated: 27 May 2015

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Immune dysfunction in Niemann-Pick disease type C.
 

Author(s): Nick Platt, Annelise O Speak, Alexandria Colaco, James Gray, David A Smith, Ian M Williams, Kerri-Lee Wallom, Frances M Platt

Journal: J. Neurochem.. 2016 Jan;136 Suppl 1():74-80.

 

Lysosomal storage diseases are inherited monogenic disorders in which lysosome function is compromised. Although individually very rare, they occur at a collective frequency of approximately one in five thousand live births and usually have catastrophic consequences for health. The ...

Last Updated: 25 Jan 2016

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Biomarker for Niemann Pick Type C Disease
 

Status: Recruiting

Condition Summary: Niemann-Pick Disease; Niemann-Pick Disease, Type C

 

Last Updated: 3 May 2017

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Evaluation of Biochemical Markers and Clinical Investigation of Niemann-Pick Disease, Type C
 

Status: Recruiting

Condition Summary: Neimann-Pick Disease, Type C

 

Last Updated: 30 Jun 2017

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Last Updated: 7 Jun 2017

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