ClinicalTrials.gov Search

Search for specific clinical trials that are underway using the keyword search below.

Keywords:

Patient support groups also offer information about clinical trials.

Content Provided By

NINDS Disorders is an index of neurological conditions provided by the National Institute of Neurological Disorders and Stroke. This valuable tool offers detailed descriptions, facts on treatment and prognosis, and patient organization contact information for over 500 identified neurological disorders.

  Print-friendly Version

Canavan Disease

Canavan disease is a gene-linked neurological disorder in which the brain degenerates into spongy tissue riddled with microscopic fluid-filled spaces. Canavan disease has been classified as one of a group of genetic disorders known as the leukodystrophies. Recent research has indicated that the cells in the brain responsible for making myelin sheaths, known as oligodendrocytes, cannot properly complete this critical developmental task.  Myelin sheaths are the fatty covering that act as insulators around nerve fibers in the brain, as well as providing nutritional support for nerve cells.  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 is caused by mutation in the gene for an enzyme called aspartoacylase, which acts to break down the concentrated brain chemical known as N-acetyl-aspartate.Symptoms of Canavan disease usually appear in the first 3 to 6 months of life and progress rapidly.  Symptoms include lack of motor development, feeding difficulties, abnormal muscle tone (weakness or stiffness), and an abnormally large, poorly controlled head. Paralysis, blindness, or hearing loss may also occur. Children are characteristically quiet and apathetic. Although Canavan disease may occur in any ethnic group, it is more frequent among Ashkenazi Jews from eastern Poland, Lithuania, and western Russia, and among Saudi Arabians. Canavan disease can be identified by a simple prenatal blood test that screens for the missing enzyme or for mutations in the gene that controls aspartoacylase. Both parents must be carriers of the defective gene in order to have an affected child. When both parents are found to carry the Canavan gene mutation, there is a one in four (25 percent) chance with each pregnancy that the child will be affected with Canavan disease.

Treatment

Canavan disease causes progressive brain atrophy. There is no cure, nor is there a standard course of treatment. Treatment is symptomatic and supportive.

Prognosis

The prognosis for Canavan disease is poor. Death usually occurs before age 10, although some children may survive into their teens and twenties.

Research

The gene for Canavan disease has been located. Many laboratories offer prenatal screening for this disorder to populations at risk. Scientists have developed animal models for this disease and are using the models to test potential therapeutic strategies.  Three strategies are currently under investigation:  gene transfer to the brain in order to replace the mutated gene for the enzyme; metabolic therapy to provide a crucial missing metabolite (acetate); and enzyme therapy where the enzyme aspartoacylase is engineered to be able to enter the brain and is injected in the the blood stream.  Encouraging results have been obtained using these strategies.

View a list of studies currently seeking patients.

View more studies on this condition.

Organizations

Canavan Foundation, Inc.

Works to educate target population about genetic screening available for Canavan disease and other Jewish genetic diseases, and supports research to find a treatment and cure for Canavan disease.

450 West End Avenue
#6A
New York, NY 10024
Tel: 212-873-4640 877-4-CANAVAN (422-6282)
Fax: 212-873-7449

Canavan Research Foundation

All volunteer non-profit organization that funds research leading to treatments and or a cure for diseases of the brain. Currently funds research in gene therapy, stem cell therapy, and metabolic approaches. Offers information and sponsors parent support programs.

88 Route 37
New Fairfield, CT 06812
Tel: 203-746-2436
Fax: 203-746-3205

Canavan Disease Research

Non-profit organization that funds research, works to raise public awareness, and offers services in support of families affected by Canavan disease.

P.O. Box 5823
Buffalo Grove, IL 60089
Tel: 800-833-2194

Genetic Alliance

International coalition representing 600 consumer and professional organizations. Supports individuals and families with genetic conditions; educates the public; and advocates for consumer-informed public policies.

4301 Connecticut Avenue, N.W.
Suite 404
Washington, DC 20008-2369
Tel: 202-966-5557 800 336-GENE (4363)
Fax: 202-966-8553

National Tay-Sachs and Allied Diseases Association

The mission of the National Tay-Sachs & Allied Diseases Association is to lead the fight to treat and cure Tay-Sachs, Canavan and related genetic diseases and to support affected families and individuals in leading fuller lives.

2001 Beacon Street
Suite 204
Boston, MA 02135
Tel: 800-90-NTSAD (906-8723)
Fax: 617-277-0134

United Leukodystrophy Foundation

Nonprofit voluntary health organization dedicated to providing patients and their families with information; assistance in identifying sources of medical care, social services, and genetic counseling; establishing a communication network among families; increasing public awareness, and acting as an information source for health care providers. Promotes supports research into causes, treatments, and prevention of the leukodystrophies.

224 North 2nd Street, Suite 2
DeKalb, IL 60115
Tel: 815-748-3211 800-728-5483
Fax: 815-748-0844

Jacob's Cure, Inc

Jacob's Cure is a non-profit foundation dedicated to raising the funds necessary to curing Canavan disease, a fatal genetic neurological disorder that affects children at birth. Since its inception in September 2000, Jacob's Cure allocates monies raised to research in gene-therapy, stem cell transplantation, pharmacological approaches and basic science in understanding Canavan disease.

P.O. Box 52
Rye, New York 10580
Tel: 914-502-4249
Fax: 914-925-3979

<< Back