About Us Krabbe Disease Research Families ... Newborn Screening Canavan's Disease Canavan disease is a leukodystrophy - one of a spectrum of devastating neurological disorders in which the brain deteriorates due to a defective inherited gene. Like many other identified leukodystrophies, such as Krabbe, Canavan Disease interferes with the body's normal production of myelin. This fatty membrane, the central nervous system's "white matter", forms a protective coating around every nerve in the brain and spinal cord, to ensure that nerve impulses are properly transmitted from one part of the body to another. The elements of N-acetylaspartate acid, or NAA, a naturally-occurring compound in the brain, are thought to be instrumental in building myelin. Normally an enzyme, aspartoacyclase, breaks NAA down into the building blocks needed. In those afflicted with Canavan Disease, however, a gene mutation prevents production of this enzyme. NAA accumulates to dangerous levels, and the brain's communications network is seriously impaired. This leaves Canavan children incapable of performing the simplest functions. Even if they live to their full life expectancy - three to ten years - they become blind, paralyzed, prone to seizures...and increasingly lost to the world around them. The Canavan gene has been identified, allowing at-risk couples to carrier test for this deadly disease. Both parents must be carriers in order to have a child with Canavan (25% risk or 1 in 4). In January 1998, the FDA approved a gene therapy to be used in an experimental trial at Yale University and Jefferson Medical College. Sixteen children ranging in ages from 9 months to 7 years have received gene therapy at these two institutions, some more than once. This trial was the first clinical trial for a genetic brain disease in the US. Most have shown clinical improvement. Scientific measurements of visual and motor messages to the brain, as well as physician and parental assessments, have been obtained | |
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