The families of children with Canavan disease are suing the researchers who found the gene responsible for the illness, using blood and tissue from two children in Chicago and other children who died of the disease. The researchers received a patent for it in 1977. Daniel and Debbie Greenberg of Chicago and other parents involved in the research contend that the patent and a commercial test with strictly enforced licensing has impeded further study of Canavan. The suit, filed in U.S. District Court in Chicago on Oct. 30, alleges that researchers secretly obtained the patent using the genetic information and began charging royalties and restricting the availability of testing.
Defendants include the Miami Children's Hospital, where the gene was discovered and the test developed, along with the lead researcher, Dr. Reuben Matalon.
"It's a unique case," said Laurie Rosenow, an attorney who helped prepare the complaint. "Research participants have charged their rights were violated because they were misused by researchers for financial gain. It could shape future genetic collaborations."
According to a report in the Chicago Tribune, the families, the New York-based Canavan Foundation and other plaintiffs are seeking to stop Miami Children's Hospital's commercial use of the Canavan gene and recover damages of more than $75,000 received from royalties collected for the gene test. The Canavan Foundation was forced to stop offering free genetic screening after being told it would have to pay royalties and comply with other licensing terms.
In a talk at Cornell University last November, Dr. Judith Tsipis noted that Matalon's work was picked up by laboratories all over the country and the world and was used to develop a DNA-based test that can reliably determine whether an individual, especially someone of Ashkenazi descent, carries a gene mutation for Canavan disease and therefore is at risk for having a child with Canavan disease.
"The early Canavan research sounds like the ideal model of collaboration between families and researchers," Tsipis said. "Families donated blood and skin samples to Dr. Matalon; however, there was no consent, either verbal or written, regarding the use of their genes by Miami Children's Hospital -- no mention of patents, licensing for profit or anything else that could hinder the public's benefit from the use of their genes and those of their sick children, either for prevention or eventual therapy or cure."
Tsipis continued, "Families were therefore both surprised and angry to learn that, without their knowledge or consent, Dr. Matalon and the hospital had applied for and received a patent on the Canavan gene -- on 'their' genes and those of their children. The patent was comprehensive, covering genetic screening and diagnostic methods and kits, methods of treating Canavan disease and methods of protein or gene therapy for the disease. In short, everything was covered." Since that time, Tsipis maintains, "the hospital has ... restricted access to carrier, diagnostic and prenatal testing for Canavan disease and impeded research."
One of the parents, Daniel Greenberg, summed up his feelings. "What the hospital has done," he said, "is a desecration of the good that has come from our children's short lives. I can't look at it any other way."
For information about support groups related to genetic diseases:
National Tay-Sachs & Allied Diseases
2001 Beacon St., Suite 204
Brighton, MA 02135
National Society of Genetic
233 Canterbury Drive
Wallingford, PA 19086
National Foundation for Jewish Genetic
250 Park Ave.
New York, NY 100ll
National Niemann-Pick Disease
3734 East Olive Ave.
Gilbert, AZ 85234