Niemann-Pick disease type A
MONDO:0009756Niemann-Pick disease type A is a very severe subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in infancy or early childhood with failure to thrive, hepatosplenomegaly, and rapidly progressive neurodegenerative disorders.
Also known as: Niemann-PICK disease, type A, Niemann-Pick disease, Intermediate, protracted neurovisceral, sphingomyelin lipidosis, sphingomyelinase deficiency
11 clinical trials for this condition and its sub-types.
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New drug targets tough childhood cancers with genetic flaws
Disease control CompletedThis phase 2 trial tested the drug samotolisib in 18 children and young adults with advanced solid tumors, non-Hodgkin lymphoma, or histiocytic disorders that had spread, returned, or stopped responding to treatment. Only patients whose tumors had specific mutations in the TSC or…
Phase: PHASE2 • Sponsor: National Cancer Institute (NCI) • Aim: Disease control
Last updated Jun 27, 2026 12:23 UTC
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Light-Based brain cap could replace radiation scans for kids
Knowledge-focused CompletedThis study tested whether two light-based technologies, fNIRS and DCS, can safely measure brain activity in children with rare neurocognitive disorders like Niemann-Pick disease and Smith-Lemli-Opitz syndrome. 73 participants, including healthy volunteers, wore a cap with lights …
Sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) • Aim: Knowledge-focused
Last updated Jun 27, 2026 13:03 UTC