Canavan disease is an extremely rare genetic disease that begins in infancy and progresses rapidly. While symptoms vary, many patients experience:
Most children are not able to meet developmental milestones and are unable to crawl, walk, sit, or talk. Many pass away before the age of 20.
The disease is caused by an inherited mutation of the ASPA gene, which codes for a protein that breaks down NAA. When NAA levels get too high, it becomes toxic to myelin in ways that are not well understood. Myelin insulates the nerves, and without it, neurons are unable to send and receive messages as they should. The condition also affects important metabolic processes.
Canavan disease has an autosomal recessive pattern of inheritance, meaning a child with the disease inherited a copy of the mutated gene from each parent. In autosomal recessive conditions, parents are carriers of the gene but generally do not experience symptoms.
Currently, there are no approved therapies for Canavan disease. The current standard of care is limited to supportive therapy.
Aspa Therapeutics has partnered with the University of Massachusetts Medical School to advance their gene therapy program for Canavan disease and pursue a clinical trial.
Canavan disease is one of a group of genetic brain disorders known as leukodystrophies. The disease results from mutations to the ASPA gene, which is responsible for creating an enzyme called aspartoacylase.
In healthy individuals, aspartoacylase breaks down a compound called N-acetyl-L-aspartic acid (NAA), which is predominantly found in neurons. With a defective ASPA gene, NAA is not broken down properly and builds up in the brain. Through mechanisms that are not well understood, this buildup causes demyelination, or a loss of the myelin sheath that insulates and contributes to the proper functioning of neurons.
Aspa Therapeutics is working to create the first-ever approved treatment for Canavan disease. Using adeno-associated virus (AAV) gene therapy, we seek to deliver functional copies of the ASPA gene throughout the body and into the brain, correcting the disease.
Our gene therapy was developed by:
AAV gene therapy has been safely tested in many other clinical trials for rare diseases. Proof-of-concept work in Canavan disease mouse models has shown that our approach:
