Wolman disease
MONDO:0019148Wolman disease represents the most severe manifestation of lysosomal acid lipase deficiency. Milder phenotypes as a whole are referred to as cholesterol ester storage disease. The acid lipase enzyme plays an essential role in lysosomal hydrolysis of both esterified cholesterol and triglycerides of lipoproteic origin. In Wolman disease, the rarest form of acid lipase deficiency, these lipids accumulate in most tissues.
Also known as: lysosomal acid lipase deficiency, Wolman disease with hypolipoproteinemia and acanthocytosis, Wolman's disease, deficiency of cholesterol esterase and triacylglycerol lipase, familial visceral xanthomatosis, familial xanthomatosis, liposomal acid lipase deficiency, Wolman type, primary familial xanthomatosis
6 clinical trials for this condition and its sub-types.
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Groundbreaking trial aims to treat rare diseases in the womb
Disease control Recruiting nowThis study tests whether giving enzyme replacement therapy to fetuses with certain rare genetic diseases (like MPS I, Gaucher, or Pompe) before birth is safe and feasible. About 10 pregnant participants will receive the treatment through the umbilical vein. The goal is to see if …
Phase: PHASE1 • Sponsor: University of California, San Francisco • Aim: Disease control
Last updated Jun 27, 2026 11:02 UTC
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New registry aims to unlock secrets of rare childhood diseases
Knowledge-focused Recruiting nowThis study collects information from up to 250 patients with lysosomal storage diseases (like certain forms of MPS, Pompe, Gaucher, and Wolman disease) to understand how these conditions develop and respond to treatments given before birth. Researchers will track symptoms, lab re…
Sponsor: University of California, San Francisco • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:05 UTC
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New registry aims to unlock secrets of rare LAL deficiency
Knowledge-focused Recruiting nowThis study is a registry that will follow up to 300 people with LAL deficiency, a rare genetic disorder that causes fat buildup in the body. Researchers will collect information over time to better understand how the disease progresses and how it affects patients. No new treatmen…
Sponsor: Alexion Pharmaceuticals, Inc. • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:11 UTC