Canavan disease is a rare autosomal recessive genetic disorder caused by mutations in the ASPA gene, which encodes the enzyme aspartoacylase. This enzyme is essential for breaking down N-acetylaspartate (NAA) in the brain. The buildup of NAA leads to the loss of myelin and subsequent neuronal dysfunction. Canavan disease typically manifests in infancy, with symptoms appearing between 3 to 6 months of age. Key symptoms include poor muscle tone (hypotonia), developmental delays, an abnormally large head (macrocephaly), and progressive loss of motor skills. As the disease progresses, children often experience seizures, vision problems, and difficulty swallowing. It primarily affects the Ashkenazi Jewish population, with a frequency of 1 in 6,400 in this group, though it occurs in the general population with an incidence of approx. 1 in 100,000. There is currently no cure, and only supportive care can help manage symptoms, leaving a significant unmet need for novel treatment options. Life expectancy is usually limited to childhood or adolescence.
Contera Pharma A/S
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Thomas Sager, CEO
info@conterapharma.com
