Canavan disease

Canavan disease is a neurological disorder in which the brain degenerates into spongy tissue full of small fluid-filled spaces. It is caused by a mutation in the ASPA gene which makes an enzyme called aspartoacylase. This enzyme is primarily present in oligodendrocytes, contributes to the manufacture of myelin, and is responsible for breaking down (metabolizing) the brain chemical N-acetyl-L-aspartate or N-acetyl-L-aspartic acid. In Canavan disease, many oligodendrocytes do not mature and instead die, leaving nerve cell projections known as axons vulnerable and unable to properly function.

Canavan disease causes progressive brain atrophy. There is no cure, nor is there a standard course of treatment. Treatment is symptomatic and supportive. The prognosis for Canavan disease is poor. Death usually occurs before age 10, although some children may survive into their teens and twenties.

How can I or my loved one help improve care for people with Canavan disease?

Consider participating in a clinical trial so clinicians and scientists can learn more about Canavan disease and related conditions. Clinical research uses human volunteers to help researchers learn more about a disorder and perhaps find better ways to safely detect, treat, or prevent disease.

All types of volunteers are needed—those who are healthy or may have an illness or disease—of all different ages, sexes, races, and ethnicities to ensure that study results apply to as many people as possible, and that treatments will be safe and effective for everyone who will use them.

For information about participating in clinical research visit NIH Clinical Research Trials and You. Learn about clinical trials currently looking for people with Canavan disease and leukodystrophy at Clinicaltrials.gov, a database of current and past clinical studies and research results.

Where can I find more information about Canavan disease?

Information for people living with Canavan disease and their families, friends, and caregivers is available from the following organizations and resources:

Canavan Disease Research
Phone: 800-83-2194

Canavan Foundation, Inc.
Phone: 877-422-6282

Canavan Research Foundation
Phone: 203-240-2326

Genetic Alliance
Phone: 202-966-5557 or 800-336-4363

Genetic and Rare Diseases (GARD) Information Center

MedlinePlus

PubMed

National Tay-Sachs and Allied Diseases Association
Phone: 617-227-4463

United Leukodystrophy Foundation
Phone: 815-748-3211 or 800-728-5483

Content source: https://www.ninds.nih.gov/health-information/disorders/canavan-disease. Accessed July 11, 2023.

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