Leukoencephalopathy with vanishing white matter
MONDO:0800448A new leukoencephalopathy, the CACH syndrome (Childhood Ataxia with Central nervous system Hypomyelination) or VWM (Vanishing White Matter) was identified on clinical and MRI criteria. Classically, this disease is characterized by (1) an onset between 2 and 5 years of age, with a cerebello-spastic syndrome exacerbated by episodes of fever or head trauma leading to death after 5 to 10 years of disease evolution, (2) a diffuse involvement of the white matter on cerebral MRI with a CSF-like signal intensity (cavitation), (3) a recessive autosomal mode of inheritance, (4) neuropathologic findings consistent with a cavitating orthochromatic leukodystrophy with increased number of oligodendrocytes with sometimes "foamy'' aspect.
Also known as: childhood ataxia with diffuse central nervous system hypomyelination, leukoencephalopathy with vanishing white matter, myelinosis centralis diffusa, Cree leukoencephalopathy, CACH syndrome, CACH/VWM, CACH/VWM syndrome, VWM
21 clinical trials for this condition and its sub-types.
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Last hope drug trial for kids with fatal brain disease
Disease control OngoingThis study gives one child with Cree Leukoencephalopathy (CLE) access to an experimental drug called fosigotifator. CLE is a rare, inherited brain disease that destroys white matter and leads to early death. The drug aims to slow or stop the damage, possibly easing symptoms and i…
Phase: NA • Sponsor: McGill University Health Centre/Research Institute of the McGill University Health Centre • Aim: Disease control
Last updated Jun 27, 2026 08:11 UTC
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Desperate patients get early access to experimental brain drug
Disease control NO_LONGER_AVAILABLEThis program offers early access to fosigotifator, an oral drug, for people with Vanishing White Matter or Cree Leukoencephalopathy—two rare, serious brain diseases. A doctor must decide if the potential benefit outweighs the risks for each patient. The drug is not yet approved, …
Sponsor: AbbVie • Aim: Disease control
Last updated Jun 27, 2026 08:11 UTC
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Last hope: experimental drug tested in single child with rare brain disease
Disease control OngoingThis study gives one patient with Cree Leukoencephalopathy, a rare and fatal brain disease, access to an experimental drug called fosigotifator. The drug aims to slow or stop the brain damage that causes severe disability and early death. Researchers will track whether the patien…
Phase: EARLY_PHASE1 • Sponsor: McGill University Health Centre/Research Institute of the McGill University Health Centre • Aim: Disease control
Last updated Jun 27, 2026 08:07 UTC
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AI boosts brain scan accuracy in massive new trial
Diagnosis ENROLLING_BY_INVITATIONThis study tests whether an AI tool can help radiologists read brain CT and MRI scans more accurately and quickly. Researchers will compare how well doctors, AI alone, and doctors using AI together can spot abnormalities, urgent findings, and classify diseases. The goal is to red…
Sponsor: Yaou Liu • Aim: Diagnosis
Last updated Jun 27, 2026 11:00 UTC
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Could a headset at home boost brain recovery? new study tests tDCS for stroke, tumors, and neurodegeneration
Symptom relief ENROLLING_BY_INVITATIONThis study tests whether a home-based brain stimulation device (tDCS) combined with activity therapy can help improve cognitive and language problems in people with stroke, brain tumors, or neurodegenerative conditions like Parkinson's or Alzheimer's. Fifty-five participants will…
Phase: NA • Sponsor: Mayo Clinic • Aim: Symptom relief
Last updated Jun 27, 2026 09:00 UTC