Gene Therapy Surgery for Canavan Disease

A novel type of brain surgery involving the delivery of a genetically engineered virus into the brain is designed to slow the effects of a genetic disorder called Canavan disease.

Canavan disease is an inherited pediatric disorder found mainly in children of Ashkenazi Jewish descent. The disorder is caused by the lack of an enzyme in the brain called aspartoacylase (ASPA). Without this enzyme, the brain is unable to break down N-acetylaspartate (NAA), an acid that builds up and causes a spongy deterioration of the brain, leading to blindness and death. Average life expectancy is 10 years.

As part of a phase I study, surgery was performed on a two-year-old girl at Cooper University Hospital (Camden, NJ, USA) under the direction of Paola Leone, Ph.D., principal investigator of the study and director, Cell and Gene Therapy Center, at Cooper. First, the virus was engineered to contain the missing gene. Then, six tiny catheters were inserted deep into the area of the brain where the gene is missing. Using a pump and syringe system, Dr. Leone injected 600-900 billion viral particles through the catheters into the brain cavity, where the healthy gene remains. The function of the virus is to break down the NAA and slow the degenerative effects of the disease. To date, four patients have received the treatment and all have shown marked improvements in their quality of life. The research was funded by the US National Institute of Neurological Disorders and Stroke (NINDS).

"Children in the past were given a death sentence—parents were virtually told their child's situation was hopeless. Today, we are providing hope for the families and the chance to develop a therapy for this devastating disease,” said Dr. Leone.




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