Niemann-Pick disease, type C1
MONDO:0009757Type C Niemann-Pick disease associated with a mutation in the gene NPC1, encoding Niemann-Pick C1 protein.
Also known as: Niemann-Pick disease, type C1, type C1 Niemann-Pick disease, NPC1, Niemann-PICK disease, type C1, Niemann-Pick disease type C1, Niemann-Pick disease with cholesterol esterification block, Niemann-Pick disease without sphingomyelinase deficiency, Niemann-Pick disease, chronic neuronopathic form
9 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