Canavan disease

Canavan disease (also known as Canavan-Van Bogaert-Bertrand disease, spongy degeneration of the central nervous system, or aspartoacylase deficiency) is a severe inherited neurodegenerative disorder that primarily affects the white matter of the brain. It belongs to a group of genetic conditions known as leukodystrophies. The disease is caused by mutations in the ASPA gene, which encodes the enzyme aspartoacylase. Deficiency of this enzyme leads to accumulation of N-acetylaspartic acid (NAA) in the brain, resulting in progressive destruction of myelin — the protective insulation surrounding nerve fibers. This spongy degeneration of white matter profoundly impairs motor and intellectual development. The most common neonatal/infantile form typically presents in the first few months of life with hypotonia (poor muscle tone), macrocephaly (abnormally large head), and developmental delays. As the disease progresses, children develop spasticity, feeding difficulties, seizures, optic atrophy leading to visual impairment, and severe intellectual disability. Most affected children do not achieve independent sitting, walking, or speech. A milder form of Canavan disease exists but is much less common, presenting with developmental delays that may not be recognized until later in childhood. Canavan disease is particularly prevalent among individuals of Ashkenazi Jewish descent, though it can occur in any ethnic group. There is currently no cure for Canavan disease, and treatment remains supportive, focusing on management of symptoms such as seizures, feeding difficulties, and physical therapy to maintain function. Gene therapy and other experimental approaches are under active investigation. Elevated NAA in urine is a key diagnostic marker, and the diagnosis is confirmed by molecular genetic testing of the ASPA gene. Carrier screening is widely recommended for individuals of Ashkenazi Jewish ancestry.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Common questions about Canavan disease