CONTACT: TOM MOORE
Joint Office for Planning, Marketing and Communications
8788 John Pappajohn Pavilion
Iowa City IA 52242
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
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
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.