Fabry's disease

Enzyme seen as key in battling Fabry's disease, researchers say

Associated Press

Thursday, July 5, 2001

Replacing a missing enzyme in people with Fabry's disease reverses the damage caused by the rare, inherited disorder, according to a study on the first-ever treatment for the disease.

Researchers gave Fabry patients intravenous infusions of the enzyme, called alpha-galactosidase A, which had been genetically engineered. The treatment cleared deposits from the kidneys, heart and skin, the researchers reported in today's New England Journal of Medicine.

"For the many, many years that I've seen these patients -- and some I've followed for 30 years -- I've only been able to give them hope," said Robert J. Desnick of Mount Sinai School of Medicine in New York, who led the research. "I think we now have something to offer them, perhaps more than hope. And this is to me a major accomplishment."

An estimated one in 40,000 men has Fabry's disease.

Desnick said scientists thought the treatment would work but couldn't get enough of the enzyme before genetic engineering. The biotech company Genzyme Corp., which paid for the study, is seeking government approval to market the enzyme as Fabrazyme in the United States and Europe. Desnick is a consultant to Genzyme and has received grants from the company.

A second company, Transkaryotic Therapies Inc., also has applied for approval of its own enzyme replacement therapy, called Replagal.

Last year, Genzyme sued Transkaryotic Therapies, accusing it of patent infringements on the enzyme. Transkaryotic Therapies has denied the allegations, and the lawsuit still is pending.

In the study reported today, researchers enrolled 58 Fabry patients in medical centers in the United States and Europe in 1999.

Researchers focused on the treatment's effectiveness on the kidneys, since kidney failure is a frequent and serious complication of the disease. Deposits of the fatty substance -- globotriaosylceramide -- were cleared in 20 of the 29 patients or 69%, compared to none in the comparison group. Deposits also were reduced significantly in the skin and heart, the researchers reported.

William A. Gahl of the National Institutes of Health, who wrote an editorial accompanying the study, said research was needed to determine whether the treatment prevents some of the other complications such as the pain, skin rash and eye problems.

FABRY'S DISEASE

-- An estimated one in 40,000 men has Fabry's disease, in which they lack an enzyme, called alpha-galactosidase A, that breaks down a fatty substance in the body. Without the enzyme, the substance accumulates in blood vessels, leading to kidney failure, heart attack or stroke.

-- Symptoms include pain in the feet and hands, a skin rash and the inability to sweat.

-- The average life span for those with Fabry's disease is about 40 years.

Copyright 2001
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