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Success Report in Treatment Of Disease with Gene Therapy

By Rick Weiss
The Washington Post
PHILADELPHIA

Marking a landmark achievement in the nascent field of genetic medicine, scientists Thursday reported the first successful use of gene therapy to bring about lasting improvement in a patient with a life-threatening inherited disease.

The experimental technique, which involved replacing defective genes with normal ones, appears to have fallen short of a complete cure in the patient -- a 30-year-old Quebec seamstress and part-time bank teller who is now healthy but remains at increased risk of early death.

But researchers familiar with the case hailed the results as the strongest evidence yet that genetic manipulation represents a practical approach to treating an array of lethal diseases.

"This is the first published account of stable, partial correction of a genetic disease using gene therapy, and that makes this a pretty important event," said Francis Collins, director of the National Center for Human Genome Research at the National Institutes of Health.

The patient, who requested that her identity remain secret, suffers from a rare hereditary syndrome that causes cholesterol to rise to eight to 10 times normal levels, clogging blood vessels and precipitating heart disease.

Many victims of the ailment, called familial hypercholesterolemia, need bypass surgery while still in their teens. The Quebec woman had suffered a heart attack at 16 and underwent bypass surgery at 24. Most victims of the condition die from heart attacks in their twenties or thirties. The patient said that two of her brothers had already died of sudden heart failure, and a sister was now ill with the disease

The woman stood before reporters Thursday, almost two years after becoming the first person to receive the experimental therapy. She was flanked by her doctors, including James M. Wilson, the University of Pennsylvania researcher who pioneered the radical therapy, and expressed relief that recent tests had indicated the procedure was largely a success. "I had nothing to lose but to go ahead," she said, looking trim and healthier than many of the reporters who attended. "And it's paying off."

The experiment was not the first gene therapy procedure performed in the United States; NIH researchers passed that landmark in 1990 when, after a prolonged debate over the scientific and ethical issues relating to genetic manipulation in humans, they provided new genes to a child with an inherited immune system deficiency.

But that technique is not permanent -- it requires that therapeutic infusions be repeated every few months -- and results from that patient have yet to be published in a scientific journal. Details of Wilson's work appears in Friday's issue of Nature Genetics. The lead author of the report is Wilson's colleague Mariann Grossman, director of the Human Applications Laboratory of Penn's Institute for Human Gene Therapy.

While generally impressed with the work, other scientists said that the technique is cumbersome compared to other gene therapy approaches under investigation, some of which avoid surgery by injecting gene-bearing viruses directly into the body.