RecruitingPhase 1 / Phase 2NCT05757141
Neurological
Vanishing White Matter Disease
Also known as VWM, childhood ataxia with central nervous system hypomyelination, CACH syndrome, eIF2B deficiency
Vanishing white matter disease (VWM) is caused by mutations in any of the five EIF2B subunit genes encoding eukaryotic initiation factor 2B, which regulates the integrated stress response. The characteristic feature is progressive rarefacti
ORPHA:135 ↗Gene EIF2B1Gene EIF2B2Gene EIF2B3Gene EIF2B4Gene EIF2B5Prevalence 1-9 per 100,000 (Orphanet)Onset Infantile, Childhood, Adolescent, AdultAutosomal recessive genetic
4
studies recruiting now
as of 7 Sept 2026
8
studies registered in total
as of 7 Sept 2026
4
countries with a recruiting site
as of 7 Sept 2026
7 Mar 2023
most recent study posted
among recruiting studies
Recruiting trials
RecruitingNCT03333200
Longitudinal Study of Neurodegenerative Disorders
RecruitingNCT03047369
The Myelin Disorders Biorepository Project
RecruitingNCT04880356
Longitudinal Study of Ultra-rare Inherited Metabolic and Degenerative Neurological Diseases.
Showing the 4 most recently updated recruiting studies, as recorded 7 Sept 2026. Live status on each study page.
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Countries with at least one recruiting site among the studies above, 7 Sept 2026. Tap a country to search trials there.
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About Vanishing White Matter Disease
Vanishing white matter disease (VWM) is caused by mutations in any of the five EIF2B subunit genes encoding eukaryotic initiation factor 2B, which regulates the integrated stress response. The characteristic feature is progressive rarefaction and cystic degeneration of cerebral white matter that appears nearly absent on MRI. Stress triggers (fever, infection, minor head trauma) cause episodic neurological crises with rapid deterioration, and the disease is often fatal in childhood for early-onset forms.
Common clinical features
Progressive cerebellar ataxiaSpasticityEpisodic deterioration triggered by stressWhite matter cystic changes on MRIEpilepsyOptic atrophyPremature ovarian failure (females)
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Before you apply
Things trial teams commonly ask about for Vanishing White Matter Disease. Not eligibility rules; those are set by each study.
- EIF2B subunit gene sequencing and protein activity assay are required for diagnosis — document which EIF2B subunit is affected
- Brain MRI pattern (diffuse white matter signal change with cystic change and characteristic spectroscopy) is a required enrollment document
- Fever and infection prevention protocol during trial participation is critical — trial sites must have VWM emergency management plans
- Premature ovarian failure in female patients is a distinct manifestation that may qualify for separate reproductive health sub-studies
Related conditions
Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).