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John Barranger, M.D., Ph.D.

John Barranger, M.D., Ph.D.

University of Pittsburgh Graduate School of Public Health to be Site of Major Research Study to Test Potential Therapy for Fabry Disease

PITTSBURGH, July 6, 2001 — The University of Pittsburgh will be one of 20 medical centers to take part in a major international study of a potential therapy for Fabry disease, a rare genetic disorder that affects about 1 in 40,000 males worldwide. The goal of this trial is to determine the safety and efficacy of recombitant Human alpha-galactosidase A (FabrazymeTM) on the progression of the disease.

The University of Pittsburgh is recruiting patients now for the study, which will be a randomized, double-blind trial. This means that neither the investigators nor the participants will know who is receiving the treatment versus a placebo.

This week’s New England Journal of Medicine includes a report on an earlier eight-center study that points to the potential of enzyme-replacement therapy to reverse many of the most severe health problems associated with Fabry such as kidney and heart failure and stroke. Fifty-eight patients took part in the Journal study.

“We will be working with families, Fabry patient organizations and medical centers throughout our area to identify patients for this very important clinical trial,” said John Barranger, M.D., Ph.D., a professor in the human genetics department of the Graduate School of Public Health at the University of Pittsburgh. “It is an excellent example of how genetics impacts public health leading to better diagnosis and treatment.”

“We are very pleased to be a part of this historic effort, and hope that our work will lead to a new treatment option for this devastating disease,” added Dr. Barranger, who is also a professor in the university’s departments of molecular genetics, biochemistry and pediatrics.

Fabry disease is an inherited condition known as lysomal storage disorder. It is caused by an enzyme deficiency that results in the body’s inability to break down certain naturally occurring fatty substances called glycolipids – primarily GL-3. In Fabry disease, these glycolipids accumulate in the body, principally in the lining of blood vessels in the kidney, heart and other organ systems. Symptoms include pain in the hands and feet, a spotted, dark red rash, kidney dysfunction, a decrease in the ability to perspire, stroke and heart attack. Because of such severe organ complications, Fabry is often fatal by age 40.

“Fabry disease is a devastating, painful experience for any family,” said Dr. Barranger. “This study will help us to measure the effectiveness of an important new treatment option for Fabry patients that could save life – and improve its quality – for thousands of people worldwide.”

Linked to the X-chromosome, Fabry disease is a genetic disorder that is present at birth. Women can pass the trait for Fabry on to their male children. And, female carriers of the Fabry trait frequently have signs and symptoms of the disease.

In the University of Pittsburgh study, participants will be treated for at least a year. To be eligible, patients must have clinical symptoms consistent with Fabry disease, be older than 16 and meet certain other criteria. Patients who have undergone or are currently scheduled for kidney transplantation or who are currently on dialysis are not eligible. Patients who have undergone previous enzyme therapy, or who are pregnant or lactating also are not eligible.

Results from recent clinical trials for the treatment of Fabry disease were submitted to the U.S. Food and Drug Administration in June. Genzyme Corp. of Cambridge, Mass., maker of FabrazymeTM, has submitted a biologic license application to the FDA, and filed a European marketing authorization application in July.

The University of Pittsburgh School of Medicine is consistently ranked among the nation's leading medical schools. It is one of the university's six Schools of the Health Sciences, which include the schools of Nursing, Dental Medicine , Pharmacy, Health and Rehabilitation Sciences and the Graduate School of Public Health. Their combined mission is to train tomorrow's health care specialists and biomedical scientists, engage in groundbreaking research that will advance the understanding of the causes and treatments of disease and to participate in the delivery of care as a partner with the University of Pittsburgh Medical Center. Among the many areas for which its faculty and programs are internationally recognized are oncology, psychiatry, genetics, transplantation and public health.

For more information about the Fabry disease trial and how to participate, patients may contact Erin O’Rourke at the Lysomal Storage Disease Center, University of Pittsburgh Medical Center, at 1-800-334-7980.

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