About Canavan Disease
Canavan disease is a fatal leukodystrophy caused by deficiency of aspartoacylase (ASPA), which metabolizes N-acetylaspartate (NAA) in the brain. Accumulation of NAA in brain cells disrupts myelin formation and maintenance, causing progressive spongy degeneration of the white matter. Affected children appear normal at birth but develop macrocephaly, hypotonia, head lag, and severe intellectual disability by 3-6 months, with a fatal course usually in childhood.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to Canavan Disease trials.
Urine N-acetylaspartate (NAA) level markedly elevated is the pathognomonic biomarker required for trial enrollment
ASPA enzyme activity in fibroblasts or leukocytes and biallelic ASPA variants are required for genetic confirmation
Gene therapy trials (AAV-based) are the primary interventional pathway — no prior gene therapy is a universal exclusion
Brain MRI pattern (diffuse white matter abnormality with specific spectroscopy findings) must be documented at baseline
Patient Resources
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