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, 4 tagged with Niemann-Pick disease type A itself.
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Experimental cell shot aims to boost brain repair in kids with rare metabolic diseases
Disease control Recruiting nowThis early-stage trial tests whether adding special cells (DUOC-01) into the spinal fluid is safe for children with inherited metabolic diseases that damage the brain. Participants are ages 1 week to 21 years and are already receiving a standard umbilical cord blood transplant. T…
Phase 1 • Sponsor: Joanne Kurtzberg, MD • Aim: Disease control
Last updated Sep 05, 2026 00:00 UTC
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New study tracks safety of enzyme therapy in babies with rare genetic disease
Knowledge-focused Recruiting nowThis study follows up to 10 children under 2 years old with acid sphingomyelinase deficiency (ASMD) who are already receiving olipudase alfa (Xenpozyme®) as part of their routine care. Researchers will monitor side effects and immune responses over 1 to 3 years. No new treatment …
Sponsor: Sanofi • Aim: Knowledge-focused
Last updated Sep 18, 2026 00:00 UTC