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Release: Dec. 4, 2002

Children's Hospital of Iowa to test new treatment for Fabry disease

The Children's Hospital of Iowa at University of Iowa Hospitals and Clinics will be one of 20 medical centers to take part in a major international study of a new treatment for Fabry disease, a rare genetic disorder that affects an estimated 1 in 40,000 males worldwide.

The goal of the trial is to determine the safety and efficacy of recombinant human alpha-galactosidase A (Fabrazyme) on the progression of renal disease and significant clinical events in patients with Fabry disease. This will be a Phase IV multi-center, multinational, randomized, double-blind, placebo-controlled trial.

Because Fabry disease is a rare genetic disorder, centers will need to work aggressively to identify patients to take part in this 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. 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," said Thomas Loew, M.D., UI associate professor (clinical) and lead investigator of the study at Children's Hospital of Iowa.

Fabry disease is an inherited condition known as a lysosomal storage disorder. It is caused by an enzyme deficiency that results in the body's inability to break down certain naturally occurring glycolipids, primarily GL-3. These glycolipids accumulate in the body, primarily in the lining of blood vessels within the kidney, heart and other internal organs. Symptoms include pain in the hands and feet, angiokeratoma (spotted, dark red skin rash), renal dysfunction, decrease in ability to perspire, stroke and cardiac arrest. Due to severe organ complications, Fabry disease is often fatal by age 40.

"Fabry disease is a devastating, painful experience for any family. This study will help us to measure the effectiveness of an important new treatment option for Fabry patients that could literally save the lives of thousands of people worldwide," Loew added.

Passed to children by their parents, Fabry disease is an X-linked recessive genetic disorder. While women can pass the gene for Fabry on to their children, the disease affects primarily males. Some female carriers of the gene do present symptoms of the disease.

In this study, patients will be treated for at least 12 months. To be eligible for this study, patients must have a clinical presentation consistent with Fabry disease, be over 16 years of age and meet certain other eligibility criteria. Patients who have undergone or are currently scheduled for kidney transplantation, are currently on dialysis or have unconfirmed Fabry disease are not eligible. Female patients who are pregnant or lactating also are not eligible.

The results from recent Phase III clinical trials for the treatment of Fabry disease were submitted to the U.S. Food and Drug Administration in June 2000. Fifty-eight patients at eight medical centers in the United States and Europe were enrolled in this trial. Genzyme Corporation submitted a Biologic License Application to the FDA in July 2000, and received marketing authorization for Fabrazyme in the European Union in August 2001.

Children's Hospital of Iowa at UI Hospitals and Clinics is a nationally recognized pediatric center of excellence, providing comprehensive health care for children from birth to young adulthood. Its pediatric outreach and satellite clinics provide primary and specialty care every year for more than 100,000 children throughout Iowa. It is the state's longest-serving children's hospital. As a "hospital within a hospital," Children's Hospital of Iowa benefits from the sophisticated services and comprehensive resources of UI Hospitals and Clinics - consistently ranked as one of the "Best Hospitals in America" by U.S. News & World Report magazine.

For more information about the study of a new treatment for Fabry disease, patients can call the Children's Hospital of Iowa toll free at (800) 777-8442 or (319) 384-8442, or visit them online at www.uihealthcare.com/chi.

University of Iowa Health Care describes the partnership between the UI Roy J. and Lucille A. Carver College of Medicine and UI Hospitals and Clinics and the patient care, medical education and research programs and services they provide. Visit UI Health Care online at www.uihealthcare.com.