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Enzyme replacement therapy found to effectively treat patients with Fabry disease

confirms the long-term safety and effectiveness of enzyme replacement therapy for patients with Fabry," said Dr. Wilcox.

Named Fabry disease after the dermatologist who first noted the symptoms back in the 19th century, it was only recently discovered that the disease is an inherited disorder caused by the lack of a particular enzyme called a-galactosidase A or a-GAL. The enzyme is needed to break down a fatty substance in cells called globotriaosylceramide or GL-3. But when a-GAL is lacking, GL-3 builds up in blood vessel walls and does increasing damage to organs such as the heart, kidney and brain. By the time that the disease is diagnosed, the organs have often sustained damage, ultimately leading to an early death.

"Raul's bout with the disease is similar to many other patients with Fabry, as even now, the disease is often undiagnosed until adulthood when organs have started being affected," said Dr. Wilcox. "Now we have a drug that replaces the deficient enzyme so that patients can live longer and better."

In the study, Raul was one of 58 patients selected at random to receive r-haGAL or a placebo by infusion every two weeks for a 20-week period. After completing 20 weeks of the study, all 58 patients have been receiving an infusion of r-haGAL every two-weeks for over 18 months. Patients' response to the drug was monitored via kidney and heart function tests. Tissue biopsies were also performed to assess organ function and a specialized questionnaire was used to assess patient pain levels. The investigators found that pain was significantly improved overall, while pathology studies confirmed that GL-3, or the fatty substance in cells, was consistently reduced throughout the study period. Kidney function remained stable throughout treatment during the 18-month period indicating that the disease was not causing further damage.

Although the investigators found that the majority of patients began producing antibodies i
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Contact: Kelli Stauning
kelli.stauning@cshs.org
310-423-3674
Cedars-Sinai Medical Center
24-Oct-2002


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