Canavan disease is one of a group of genetic brain disorders known as leukodystrophies. The disease comes as a result of 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 found predominately found in neurons. But 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 Guangping Gao, Ph.D and Dominic J. Gessler, M.D. at the University of Massachusetts Medical School. Dr. Gao, a pioneer in AAV gene therapy, was also the first person to clone the ASPA gene in 1993, and has been working on developing a cure Canavan disease for over 25 years.
While Aspa Therapeutics’ gene therapy for Canavan Disease is different from the gene therapy work being pursued by Paola Leone, Ph.D, she is another pioneer in the field of Canavan Disease who has been working passionately on behalf of patients and families for decades. We are proud to have her as an advisor to the company.
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 restores survival and normal motor function in these mice.