Health News

Girl's Parents Plead for Gene Therapy to Resume

Sept. 27, 2000 (Washington) -- Lindsay Karlin is in a race against time. Lindsay suffers from a rare brain disorder called Canavan disease, and at age 6, has lived a year longer than most others who have it. But unless the FDA quickly approves the next phase of her gene-therapy treatment, she will almost certainly die, say her parents, Roger and Helene Karlin of Fairfield, Conn.

Canavan disease is an inherited disorder caused by the lack of an enzyme known as aspartoacylase (ASPA). Without this enzyme, the brain cannot process another compound found in the brain called NAA. The buildup of NAA causes mental retardation, blindness, tremors, and eventually death.

It has been about a year since Lindsay has received her last treatment. "You can already see the deterioration," says Helene Karlin, PhD, a psychologist by training.

Paola Leone, PhD, is an associate director of the GNS Gene Therapy Center at the Thomas Jefferson University Medical College and the sponsor of Lindsay's genetic therapy. By injecting a gene into Lindsay's brain that directs brain cells to produce ASPA, the Philadelphia-based researchers have managed to increase the supply of the enzyme in her brain, she tells WebMD. The next phase, Leone says, calls for injecting a much higher number of these genes into Lindsay's brain, which may even halt the progression of her disease.

The Karlins and Leone blame the delay in Lindsay's treatment to the FDA's heightened scrutiny of genetic research. The delay, they say, clearly shows the effect that negative publicity and the recent death of Jesse Gelsinger during a gene-therapy experiment has had on genetic research in general and on U.S. regulatory authorities in particular.

Last September, the 18-year-old Gelsinger became the first patient known to die as a result of a gene-therapy experiment. Since then, other problems with genetic research have been uncovered, including the fact that some researchers and research institutions have apparently failed to tell potential patients about conflicts of interests.

In May, under pressure from Congress, the public, and the news media for a quick response, FDA officials launched several initiatives, including a plan to revisit existing genetic trials and applications for trials to ensure that the proper procedures are being followed.

"Clinical-trial monitoring and responsible reporting must be taken seriously by all parties involved in gene-therapy trials," said FDA Commissioner Jane Henney, MD. "Our plan will help restore the confidence in the trials' integrity that is essential if gene-therapy studies are to be able to fulfill their potential."

This additional paperwork and government oversight also is partly to blame for delaying Lindsay's treatment, the Karlins and Leone say. "You can't blankly apply guidelines," Helene Karlin tells WebMD. "This is a fatal disease. We were victims of a regulatory nightmare."