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Induced Pluripotent Stem Cells for Niemann Pick Disease

2019-03-26 08:29:32 | BioPortfolio

Published on BioPortfolio: 2019-03-26T08:29:32-0400

Clinical Trials [152 Associated Clinical Trials listed on BioPortfolio]

Miglustat in Niemann-Pick Type C Disease

This is a phase II randomized controlled study of miglustat in adult and juvenile patients with Niemann-Pick Type C disease. Up to 42 patients will be randomised in a 2:1 ratio to either t...

N-Acetyl-L-Leucine for Niemann-Pick Disease, Type C (NPC)

This is a multinational, multicenter, open-label, rater-blinded prospective Phase II study which will assess the safety and efficacy of N-Acetyl-L-Leucine (IB1001) for the treatment of Nie...

Open-label Study of VTS-270 in Participants With Neurologic Manifestations of Niemann-Pick Type C1

This is a multicenter, multinational, open-label study of to evaluate the long-term safety, tolerability, and efficacy of VTS-270 (2-hydroxypropyl-β-cyclodextrin) in participants transiti...

Study of 2-hydroxypropyl-β-cyclodextrin (HP-β-CD) to Treat Niemann-Pick Type C1 (NPC1) Disease

This study evaluates the efficacy and safety of 2-hydroxypropyl-β-cyclodextrin (HP-β-CD) in patients with neurologic manifestations of Niemann-Pick Type C1 (NPC1) Disease. Approximately ...

Study of Lithium Carbonate to Treat Niemann-Pick Type C1 Disease

This study is planned to study whether lithium carbonate has protective effect on the brain of Niemann-Pick disease type C1.

PubMed Articles [7871 Associated PubMed Articles listed on BioPortfolio]

Niemann-Pick disease type C caused by NPC1 mutation in a case.

To delineate the clinical and genetic features of a Chinese boy suspected for Niemann-Pick disease type C.

Cyclodextrin triggers MCOLN1-dependent endo-lysosome secretion in Niemann-Pick type C cells.

In specialized cell types, lysosome-related organelles support regulated secretory pathways, while in non-specialized cells, lysosomes can undergo fusion with the plasma membrane in response to a tran...

Imaging of tau deposits in adults with Niemann-Pick type C disease: a case-control study.

Niemann-Pick type C (NPC) is a cholesterol storage disease characterized by disruption in the endosomal-lysosomal transport system that leads to the accumulation of cholesterol and glycolipids in lyso...

Generation of an induced pluripotent stem cell line (TRNDi004-I) from a Niemann-Pick disease type B patient carrying a heterozygous mutation of p.L43_A44delLA in the SMPD1 gene.

Niemann-Pick disease type B (NPB) is a rare autosomal recessive lysosomal storage disease caused by mutations in the SMPD1 gene, which encodes for acid sphingomyelinase. A human induced pluripotent st...

Erratum: Mitochondrial G8292A and C8794T mutations in patients with Niemann-Pick disease type C.

[This corrects the article DOI: 10.3892/br.2018.1095.].

Medical and Biotech [MESH] Definitions

An allelic disorder of TYPE A NIEMANN-PICK DISEASE, a late-onset form. It is also caused by mutation in SPHINGOMYELIN PHOSPHODIESTERASE but clinical signs involve only visceral organs (non-neuropathic type).

The classic infantile form of Niemann-Pick Disease, caused by mutation in SPHINGOMYELIN PHOSPHODIESTERASE. It is characterized by accumulation of SPHINGOMYELINS in the cells of the MONONUCLEAR PHAGOCYTE SYSTEM and other cell throughout the body leading to cell death. Clinical signs include JAUNDICE, hepatosplenomegaly, and severe brain damage.

Group of disorders which feature accumulations of active HISTIOCYTES and LYMPHOCYTES, but where the histiocytes are not LANGERHANS CELLS. The group includes HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; SINUS HISTIOCYTOSIS; xanthogranuloma; reticulohistiocytoma; JUVENILE XANTHOGRANULOMA; xanthoma disseminatum; as well as the lipid storage diseases (SEA-BLUE HISTIOCYTE SYNDROME; and NIEMANN-PICK DISEASES).

A group of autosomal recessive disorders in which harmful quantities of lipids accumulate in the viscera and the central nervous system. They can be caused by deficiencies of enzyme activities (SPHINGOMYELIN PHOSPHODIESTERASE) or defects in intracellular transport, resulting in the accumulation of SPHINGOMYELINS and CHOLESTEROL. There are various subtypes based on their clinical and genetic differences.

An enzyme that catalyzes the hydrolysis of sphingomyelin to ceramide (N-acylsphingosine) plus choline phosphate. A defect in this enzyme leads to NIEMANN-PICK DISEASE. EC 3.1.4.12.

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