Myrtelle Inc. has just announced that they have been granted three new designations from the FDA for their investigative gene therapy called rAAV-Olig001-ASPA. This therapy is being investigated as a treatment for Canavan disease (CD), a rare condition.
The company has been given Orphan Drug Designation (ODD), Rare Pediatric Disease Designation (RPDD), and Fast Track Designation. The first two are only given to treatments being investigated for rare conditions with limited treatment options. All of these designations demonstrate the potential of this gene therapy to provide significant benefits for CD patients.
Canavan Disease
CD is a rare, genetic, and fatal brain disease. It is caused by a mutation in the aspartoacylase gene (ASPA). This mutation prevents the body from expressing the aspartoacylase enzyme properly. Without this enzyme, patients are unable to breakdown a chemical called N-Acetylasphartate (NAA). As a result, NAA builds up in the brain. This overproduction of NAA leads improper myelin production and negatively impacts bioenergetics and overall brain health.
Although you are born with CD, most people don’t present with any symptoms until they are a few months old. Symptoms of CD include a large head, excessive irritability, low muscle tone, poor head control, difficulty tracking the eyes, and delayed reach of motor milestones (sitting, rolling, and walking).
As patients get older, other symptoms appear which are more severe. These include seizures, trouble swallowing, severe muscle deterioration, and spasticity.
By the age of 10, symptoms of CD become life threatening.
Right now, there is no cure for this condition. Instead, patients receive palliative care to try to reduce their pain and severity of symptoms. Researchers studying investigative treatments like rAAV-Olig001-ASPA are aiming to change this outcome, providing new hope to this patient community.
Phase 1/2 Trial
This gene therapy is currently being investigated in its first human clinical trial. This is a Phase 1/2 clinical trial. The therapy uses an rAAV vector called AAV-Olig which is the first vector of its kind to directly target the oligodendrocyte cells within the brain.
These cells produce myelin, which is the protective material surrounding neurons. Recall that myelin production is decreased in CD patients due to the ASPA gene mutation.
By targeting the oligodendrocytes, this gene therapy could restore the ASPA function, allowing NAA to be properly broken down, and myelination.
You can read more about this investigative therapy and what these new FDA designations mean here.
