1 in 13,000 in the Ashkenazi Jewish population
1 in 57 in the Ashkenazi Jewish population; frequency in non-Jews is unknown
What is Canavan disease?
Canavan disease is caused by a deficiency of an enzyme called aspartoacylase (ASA). Nerve cells require a fatty substance called myelin to act as a protective covering in the brain. Myelin is created by the breakdown of another compound by ASA. When the body doesn’t produce this enzyme, the brain cannot cope with the resulting buildup of acid compounds, which destroy cells and tissue. Most children with Canavan disease appear normal at birth, but exhibit progressive deterioration of physical and mental capabilities in the first few months of life.
What are the most common symptoms?
Individuals with Canavan disease have a large head, very low muscle tone, early developmental delays and the inability to sit independently, walk or speak. They need help with feeding and may suffer from seizures, optic atrophy and blindness.
Is there treatment available?
There is no effective treatment or cure for this condition at this time. The treatments provided help maximize nutrition, fight infection and protect breathing, but do not slow or reverse the progression of the disease. Researchers are studying the potential benefits of gene therapy and stem cell therapy for people with Canavan disease.
What is the life expectancy for someone with Canavan disease?
Life expectancy for those affected is short, typically the teenage years.
How do I find out if I am a carrier?
Genetic testing, which involves a simple blood test, can identify about 98% of Ashkenazi Jewish carriers and up to 60% of non- Jewish carriers. Visit Screening and Counseling for more information on carrier screening options. The Center encourages prospective parents to meet with a genetic counselor and get tested before conception, in order to make the best health care decisions for their families.
How is Canavan disease diagnosed?
Laboratory tests can identify a lack of ASA in skin cells or elevated levels of N-acetylaspartic acid (NAA) in urine. Genetic testing looks for four common mutations in the gene for Canavan disease, two of which are mainly found in the Ashkenazi Jewish population.
Is prenatal diagnosis available?
Testing is available to those with an affected child or to couples found to be at risk by carrier testing.
How can I find out more about Canavan disease?
The Canavan Foundation’s mission is to help prevent Canavan disease through community outreach to at risk populations, increasing education and awareness, and promoting genetic testing. A main focus of the foundation is to support research efforts in finding an effective therapy for the disease.
Canavan Research Foundation
The Canavan Research Foundation focuses primarily on finding a cure for this disease. It is working with gene therapy amongst other therapies to greatly reduce and eventually eliminate the impact of Canavan disease. The website serves as a useful resource for both basic education and also current advances in research.
Canavan Research Illinois
Canavan Research Illinois is devoted to all victims of Canavan disease (and their families) worldwide. A big focus is connecting Canavan families in touch with one another, and providing further information regarding clinical trials, and genetic testing. A main goal is to help fund gene therapy, pharmacological, and stem cell research offering new hope to treat and cure Canavan disease.
The mission of Jacob’s Cure is to support the advancement of research in gene-therapy and neural stem cell transplantation that has exhibited great hope in curing Canavan. In addition to raising awareness and funds for research, Jacob’s Cure launched a campaign to obtain the support of federal funding for Canavan disease.
The Myelin Project
The Myelin Project serves as a source for information for those with demylinating diseases, including Canavan disease. The project aims to provide information and promote research on how myelin regrowth can aid in treating and curing various diseases. The site can also be viewed in Portuguese and in Spanish. International websites are available from Canada, the United Kingdom, Germany and Italy.
United Leukodystrophy Foundation
The United Leukodystrophy Foundation is dedicated to helping children and adults who have Leukodystrophy and assisting the family members, professionals and support services that serve them. The ULF is committed to the identification, treatment and cure of all leukodystrophies through programs of education, advocacy, research and service.