Families Sue Over Gene Study of Canavan Disease

The families of children who died of a rare degenerative brain disease are suing researchers who used their blood and tissue to identify and patent the gene responsible for the disorder.

The families contend the patent has hindered study of Canavan disease, which most commonly afflicts children of Ashkenazi Jewish families whose ancestors lived in eastern and central Europe.

Their lawsuit in federal court alleges that the researchers are trying to profit from their children’s illness and are hindering access to the test for other families.

“This case is the ultimate nightmare of how a gene patent can be used against the very families who made possible the discovery of the gene,” said Judith Tsipis, a professor of biology at Brandeis University.

She is also vice president of the National Tay-Sachs and Allied Diseases Assn., which filed the lawsuit on Oct. 30 along with the families and the New York-based Canavan Foundation.

Named as defendants are researcher Dr. Reuben Matalon and Miami Children’s Hospital, where the gene was discovered and where a test was developed to detect it.

Matalon and the hospital have declined to comment on the case.

There are about 200 children in the United States with Canavan. Symptoms generally begin appearing at 3 to 6 months of age. Victims are never able to walk and cannot eat independently.

In 1998, the American College of Obstetricians and Gynecologists recommended that all Ashkenazi Jewish women be tested to determine whether they are Canavan carriers.

Miami Children’s Hospital then sought to enforce its patent and charge a $25 fee for every test, later lowered to $12.50. As a result, the lawsuit alleges, the Canavan Foundation was forced to stop offering free genetic screening.