RecruitingPhase 1 / Phase 2NCT04998396
Neurological
Canavan Disease
Also known as Aspartoacylase deficiency, ASPA deficiency, spongy degeneration of the brain, van Bogaert-Bertrand 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 progressi
ORPHA:141 ↗Gene ASPAPrevalence 1-9 per 100,000 (Orphanet, higher in Ashkenazi Jewish population)Onset InfantileAutosomal recessive genetic
2
studies recruiting now
as of 7 Sept 2026
13
studies registered in total
as of 7 Sept 2026
1
countries with a recruiting site
as of 7 Sept 2026
10 Aug 2021
most recent study posted
among recruiting studies
Recruiting trials
RecruitingNCT03047369
The Myelin Disorders Biorepository Project
Showing the 2 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 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
MacrocephalyHypotonia and head lagSevere intellectual disabilityDevelopmental regressionOptic atrophySeizuresWhite matter spongy degeneration on MRI
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Treatments being studied
3 in clinical development, from Open Targets (CC BY 4.0). Not medical advice.
Phase 2Triacetin (Enzactin)
Phase 1/2Prednisone (Cortan)
Phase 1/2Levetiracetam (Desitrend)
Before you apply
Things trial teams commonly ask about for Canavan Disease. Not eligibility rules; those are set by each study.
- 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
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).