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
Clinical Trial Eligibility Tips
What to know before applying to Alexander Disease trials.
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
Patient Resources
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