RecruitingNCT02714764
Neurological
Alexander Disease
Also known as AxD, GFAP mutation, fibrinoid leukodystrophy
Alexander disease is a rare leukodystrophy caused by dominant gain-of-function mutations in GFAP encoding glial fibrillary acidic protein. Mutant GFAP accumulates in Rosenthal fibers within astrocytes, disrupting astrocyte function and impa
ORPHA:58 ↗Gene GFAPPrevalence 1-9 per 1,000,000 (Orphanet)Onset Infantile, Juvenile, AdultAutosomal dominant genetic (de novo in most cases)
3
studies recruiting now
as of 7 Sept 2026
10
studies registered in total
as of 7 Sept 2026
2
countries with a recruiting site
as of 7 Sept 2026
10 May 2021
most recent study posted
among recruiting studies
Recruiting trials
RecruitingNCT03047369
The Myelin Disorders Biorepository Project
RecruitingNCT04880356
Longitudinal Study of Ultra-rare Inherited Metabolic and Degenerative Neurological Diseases.
Showing the 3 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 Alexander Disease
Alexander disease is a rare leukodystrophy caused by dominant gain-of-function mutations in GFAP encoding glial fibrillary acidic protein. Mutant GFAP accumulates in Rosenthal fibers within astrocytes, disrupting astrocyte function and impairing myelination. The infantile form is most severe, causing progressive macrocephaly, seizures, and developmental regression; juvenile and adult forms have more varied presentations including bulbar symptoms and autonomic dysfunction.
Common clinical features
Macrocephaly (infantile)SeizuresPsychomotor retardationWhite matter abnormality on MRIBulbar dysfunction (juvenile/adult)Palatal tremorAtaxia
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Treatments being studied
1 in clinical development, from Open Targets (CC BY 4.0). Not medical advice.
Phase 3Zilganersen
Before you apply
Things trial teams commonly ask about for Alexander Disease. Not eligibility rules; those are set by each study.
- GFAP pathogenic variant (de novo gain-of-function) confirmed by sequencing is required for trial enrollment
- Brain MRI showing characteristic frontal-predominant leukoencephalopathy with periventricular rim is diagnostic
- CSF GFAP level is an emerging biomarker for disease severity and treatment monitoring
- Antisense oligonucleotide (ASO) trials targeting GFAP are in development — no prior ASO therapy is an exclusion criterion
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).