International Center for Fabry Disease

The International Center for Fabry Disease provides patients and their families with information about the symptoms, diagnosis, management, and enzyme replacement therapy for Fabry disease.

Mount Sinai Health System Services

The Mount Sinai Health System is the International Center for the diagnosis and treatment of Fabry disease. We follow over 500 Fabry families, offering a full range of clinical services including medical evaluations and prenatal diagnosis. In addition, our research laboratories continue to investigate the basic biochemical and molecular defects underlying Fabry disease. In the past 15 years, our laboratories have published numerous articles in scientific journals describing the results of our research efforts (see References). Currently, much attention is focused on developing improved diagnostic methods and on testing the effectiveness of enzyme replacement therapy.

At the Clinical Research Center (CRC) at the Mount Sinai Health System, we provide comprehensive medical care to Fabry patients and their families. The General Clinical Research Center (GCRC) is a special in-patient and out-patient unit that is staffed by nurses specifically trained to care for Fabry patients. Patients on the unit are attended to by physician staff under the direct supervision of Dr. Desnick and his expert physician specialists. A complete evaluation of a patient typically requires a stay of four to five weekdays during which consultations with other physicians who are expert in cardiology, neurology, ophthalmology, pulmonary and other medical disciplines are obtained. Blood and urine specimens are obtained for laboratory tests. Special studies such as magnetic resonance imaging (MRI), ultrasonography, echocardiography and pulmonary function testing also may be performed. At the conclusion of these studies, we discuss all results and make recommendations for current and future management with the patient and/or their parents.

Background

In 1898, two dermatologists, Johann Fabry in Dortmund, Germany and William Anderson in London, England, independently described the first patients with the disorder now known as Fabry disease. Forty years later, it was recognized that the disease resulted from abnormal deposits of a particular fatty substance, known as globotriaosylceramide, in blood vessel walls throughout the body. In the 1960's, the primary defect was identified as the inherited deficiency of the enzyme, a-galactosidase A, which is normally responsible for the breakdown of globotriaosylceramide. The gene for this enzyme was isolated and characterized in 1986 at Mount Sinai, permitting improved diagnosis, especially of female carriers, and the capability to produce large amounts of the normal enzyme for trials of enzyme replacement therapy.

Diagnostic Studies

The International Center for Fabry Disease performs free enzyme and mutation analysis for Fabry disease. These tests are approved by Clinical Laboratory Improvement Amendments (CLIA) and New York State Department of Health. Measurements of plasma and leukocyte a-galactosidase A activity are performed on all samples. Mutation analysis is determined on a case by case basis by the staff of the International Center for Fabry Disease.

We require intake information: name, address, date of birth, list of symptoms, doctor’s name, and a signed consent/HIPAA form before testing can be performed. Please contact us for sample requirements, intake sheets, consent/HIPAA forms and shipping instructions. Once you complete the forms, fax them to: (212) 659-6780, or email them to: fabry.disease@mssm.edu, or dana.doheny@mssm.edu.