Patients with rare disorder to take part in national study

Gov't providing enzyme replacement therapy for people with Fabry disease
Pamela Cowan, Saskatchewan News Network; Regina Leader-Post
Published: Tuesday, March 27, 2007

REGINA -- A small number of Saskatchewan patients who have a rare and lethal genetic disease are taking part in a costly national study.

Currently, two Saskatchewan residents who have Fabry disease -- a disorder that interferes with the body's ability to break down specific fatty substances -- are involved in the Enzyme Replacement Therapy study. It's expected that five Saskatchewan residents will participate in the threeyear study.

The federal and provincial governments, in conjunction with two drug manufacturers, are providing enzyme replacement therapy for Fabry patients who meet the study's criteria.

The two drugs are not experimental, but two formulations of the same product made by different companies, said Dr. Sandra Sirrs, a clinical instructor and assistant professor of the endocrinology and metabolism department at the University of British Columbia and one of the project's co-ordinators.

"The initiative is a study to evaluate the outcomes of patients treated with these medications, not a study to give the patients these medications," Sirrs said. "The medications are available on the market and have been for a couple of years."

In 2004, as part of the 10-year plan to strengthen health care, first ministers directed federal, provincial and territorial health ministers to establish a ministerial task force to develop the National Pharmaceuticals Strategy (NPS). Expensive drugs for rare diseases are one of the five priority areas of the NPS.

The drugs are estimated to cost $300,000 a year per individual, said Kevin Wilson, executive director of Saskatchewan Health's drug plan and extended benefits branch.

"The total cost of the program over the three years is estimated to be about $100 million," he said.

The province's contribution will depend on the number of Saskatchewan patients who will be treated for the lethal disease with intravenous medication every two weeks in Saskatoon.

Symptoms of Fabry generally begin at 10 to 15 years of age, but unless there is a family history the diagnosis is often delayed for decades, Sirrs said.

"The manifestations start out initially with pain in the hands and feet, then they go on to develop progressive disease leading to end-stage kidney failure in males that requires dialysis or transplantation, markedly premature stroke and cardiac disease," she said. "Women can be similarly affected but don't tend to get the kidney disease although they do get the heart disease, the stroke and the pain.

The onset of their symptoms tends to be somewhat later. Without treatment, men on average die before the age of 50."

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