Canavan disease


What new treatments are being studied for Canavan disease?

A few different therapies are being explored as potential treatments for Canavan disease. These include gene therapy, stem cell therapy, enzyme replacement therapy, lithium citrate, and acetate replacement. Gene therapy replaces the defective gene in a person with an unaffected one that can produce the necessary aspartoacylase enzyme. Gene therapy trials began in 2000. These studies have shown some positive results including the improvement of certain symptoms and decreased levels of N-acetylaspartic acid (NAA) in the brain. As of 2019, gene therapy has not been approved by the U.S. Food and Drug Administration for the treatment of any disorder.

Stem cell therapy involves taking adult stem cells and altering them to become cells that can help repair the myelin sheath that is damaged in people with Canavan disease. The myelin sheath coats, protects, and insulates nerve fibers. Researchers hope that repairing this damage can help stop or slow the progression of neurological damage in Canavan disease.

Enzyme replacement therapy replaces the aspartoacylase enzyme with a synthetic version engineered in a laboratory. This synthetic form is engineered to be able to enter the brain and is injected into the bloodstream where it travels to the brain. Lithium citrate is a chemical compound that can reduce the levels of NAA in the brain. Researchers believe that lithium citrate can reduce elevated levels of NAA in the brain in children with Canavan disease and possibly slow or stop the progression of the disease. The enzyme defect in Canavan disease leads to a lack of a substance called acetate in the brain. Some researchers are studying whether replacing acetate in the brain can help children with Canavan disease.

Matalon R, Michals-Matalon K. GeneReviews website. Updated August 11, 2011. Retrieved April 29, 2016, from

Canavan Disease Information Page. National Institute of Neurological Disorders and Stroke website.

Leone P, Shera D, McPhee SWJ, et al. Long-Term Follow-Up After Gene Therapy for Canavan Disease. Sci Transl Med. 2012;4(165):165ra163.

Canavan disease. National Organization for Rare Disorders website. Updated 2015. Retrieved on May 1, 2016 from

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