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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New drug trial offers hope for rare brain disease
Disease control Recruiting nowThis study tests an experimental drug, fosigotifator, in adults and children with Vanishing White Matter disease, a rare genetic brain disorder. The main goals are to check the drug's safety and how the body processes it. About 50 participants will take the drug for up to 201 wee…
Phase: PHASE1, PHASE2 • Sponsor: Calico Life Sciences LLC • Aim: Disease control
Last updated Jul 03, 2026 00:00 UTC
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3D-Printed fork handles could help dementia patients eat on their own
Symptom relief Recruiting nowThis study tests whether custom 3D-printed cutlery handles can help people with neurodegenerative diseases eat more independently. 75 patients in rehabilitation care will try handles in different sizes, designed to fit their grip. Researchers will measure changes in eating abilit…
Phase: NA • Sponsor: Centre Hospitalier Intercommunal de Toulon La Seyne sur Mer • Aim: Symptom relief
Last updated Jun 27, 2026 14:00 UTC
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Brain scans and tests aim to unlock secrets of cognitive deficits after injury
Knowledge-focused Recruiting nowThis study looks at people with brain damage from strokes, tumors, or other conditions to understand why they have specific thinking problems. Researchers will use brain scans and cognitive tests to link brain areas to deficits. The goal is to learn more about how the brain works…
Phase: NA • Sponsor: University Hospital, Caen • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:06 UTC
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NIH launches data repository to fuel future research on rare nerve and muscle diseases
Knowledge-focused Recruiting nowThis study gathers medical information from 200 adults with possible nerve, muscle, or autonomic nervous system disorders who are not already in other NIH studies. Participants undergo standard tests like nerve conduction studies, EMG, and physical exams. The data is stored anony…
Sponsor: National Institute of Neurological Disorders and Stroke (NINDS) • Aim: Knowledge-focused
Last updated Jun 27, 2026 11:00 UTC
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Major study tracks rare brain diseases to unlock their secrets
Knowledge-focused Recruiting nowThis study follows 1500 people with rare genetic brain disorders to learn how these diseases progress. Researchers measure thinking, movement, and daily living skills over time, and also look at brain scans and body fluids. The goal is to better understand the diseases and how tr…
Sponsor: University of Pittsburgh • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:03 UTC
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Researchers launch major study to track rare brain disease over time
Knowledge-focused Recruiting nowThis study follows up to 600 people with leukodystrophy, a rare genetic disorder affecting the brain's white matter. Researchers aim to track how the disease progresses, improve diagnosis through genetic testing and brain scans, and evaluate outcomes like hospitalizations and res…
Sponsor: University of Utah • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:10 UTC
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Scientists build a 'Cognitive Atlas' for mental and neurological illnesses
Knowledge-focused Recruiting nowThis study is looking at how people with conditions like schizophrenia, bipolar disorder, depression, and neurological diseases (such as Alzheimer's or stroke) perform on computer-based thinking tests. The goal is to create a detailed map of cognitive strengths and weaknesses acr…
Phase: NA • Sponsor: Centre Hospitalier St Anne • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:05 UTC
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Thick liquids might help people with swallowing problems take pills safely
Knowledge-focused Recruiting nowThis study looks at whether using a swallow gel or a semi-solid vehicle can help people with neurological conditions swallow pills more easily and safely. Researchers will observe 500 participants, including patients with swallowing disorders and healthy volunteers, as they swall…
Sponsor: Heinrich-Heine University, Duesseldorf • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:00 UTC
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Massive leukodystrophy biobank aims to unlock disease secrets
Knowledge-focused Recruiting nowThis study collects medical information and biological samples (like blood or tissue) from up to 12,000 people with leukodystrophies—rare disorders that damage the brain's white matter. Researchers will use this data to find new genetic causes, develop biomarkers for future trial…
Sponsor: Children's Hospital of Philadelphia • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:55 UTC