Peroxisomal disease
MONDO:0019053A group of congenital disorders of lipid metabolism, caused by loss of the normal peroxisomes. Signs and symptoms include developmental delays, intellectual disability, characteristic facial dysmorphic features, hepatomegaly, and hypotonia.
Also known as: disorder of peroxisomal function, peroxisomal disease, peroxisomal disorder, peroxisomal function disorder
54 clinical trials for this condition and its sub-types.
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Broader categories
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Halted gene therapy study raises questions for AMN patients
Disease control TerminatedThis early-stage trial tested a gene therapy called SBT101 for adrenomyeloneuropathy (AMN), a rare nerve disease that causes walking difficulties. Eight adults received either the therapy or a sham procedure. The study was terminated early, so we have limited data on safety and e…
Phase: PHASE1, PHASE2 • Sponsor: SwanBio Therapeutics, Inc. • Aim: Disease control
Last updated Jun 27, 2026 07:56 UTC
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Rare disease mystery: scientists watch AMN progress in hopes of finding a cure
Knowledge-focused TerminatedThis study followed 65 adult men with a rare inherited nerve disease called AMN (a form of spastic paraplegia) to understand how their symptoms change over time. Researchers collected data on walking ability and quality of life. The goal was to fill gaps in knowledge about the di…
Sponsor: SwanBio Therapeutics, Inc. • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:56 UTC