Leukodystrophy
MONDO:0019046Leukodystrophies are a group of rare, progressive, metabolic, genetic diseases that affect the brain, spinal cord and often the peripheral nerves. Each type of leukodystrophy is caused by a specific gene abnormality that leads to abnormal development or destruction of the white matter (myelin sheath) of the brain. The myelin sheath is the protective covering of the nerve and nerves can't function normally without it. Each type of leukodystrophy affects a different part of the myelin sheath, leading to a range of neurological problems.
Also known as: hypomyelinating leukodystrophy, hypomyelinating leukoencephalopathy, leukodystrophy, hypomyelinating
76 clinical trials for this condition and its sub-types.
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Broader categories
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Experimental drug TPN-101 tested in rare childhood brain disease
Disease control TerminatedThis study tested a drug called TPN-101 (censavudine) in people with Aicardi-Goutières syndrome, a rare genetic disorder that causes severe brain inflammation. The trial enrolled only 4 participants and aimed to see if the drug could reduce immune system overactivity and check fo…
Phase: PHASE2 • Sponsor: Transposon Therapeutics, Inc. • Aim: Disease control
Last updated Jun 27, 2026 12:05 UTC
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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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Experimental cell therapy targets deadly childhood brain cancer
Disease control TerminatedThis early-phase trial tested a new immunotherapy approach for children with DIPG, a rare and aggressive brain stem tumor. After standard radiation and chemotherapy, patients received special vaccines and immune cells designed to attack the tumor. The study was small (11 particip…
Phase: PHASE1 • Sponsor: University of Florida • Aim: Disease control
Last updated Jun 27, 2026 07:55 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
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Gene therapy for krabbe disease: did it last?
Knowledge-focused TerminatedThis study follows up on children with Krabbe disease who received a one-time gene therapy infusion (FBX-101) in earlier trials. Researchers will monitor safety and measure motor skills over time. Only 2 participants are enrolled, so results are very limited.
Sponsor: Forge Biologics, Inc • Aim: Knowledge-focused
Last updated Jun 26, 2026 13:47 UTC