Canavan Disease

We currently have several potential therapeutic candidates in early development targeted at reducing or halting the underlying neurodegeneration which causes Canavan disease.

Canavan disease is a rare and severe neurological disorder in which a genetic mutation occurs in a gene essential for normal brain metabolism called ASPA. The ASPA gene provides instructions for making an enzyme called aspartoacylase. Children with the disease inherit two dysfunctional copies of the gene which causes aspartoacylase deficiency, this in turn is responsible for abnormal brain metabolism and subsequently deterioration in brain white matter.

Initial symptoms such as floppiness, poor head control and increased head size occur around 3-6 months of age. Children with Canavan disease go on to suffer from severe developmental delay and loss of normal muscle control resulting in an inability to walk, crawl or sit unsupported. Many children become blind, deaf, and cannot swallow normally.

There are no approved therapies for Canavan disease. Medical treatment is mostly focused on symptom management and supportive care such as tube-feeding and physical therapy, with few children surviving beyond 10 years of age.