Current Research

We continue to provide comprehensive evaluation of patients and carriers of Fabry disease through our General Clinical Research Center (GCRC). The GCRC at the Icahn School of Medicine is an inpatient and outpatient unit that is separate from the rest of the hospital and is staffed by nurses who are specifically educated about Fabry disease.

Clinical Evaluation

A complete evaluation of patients typically requires a stay of four to five weekdays during which patients have consultations with experts in cardiology, renal disease, neurology, ophthalmology, pulmonary, ear nose and throat, and pain. Each member of this team of consultants has a particular interest in Fabry disease, and all are all committed to providing state-of-the-art care to our patients. During a stay at the GCRC, we also perform laboratory tests and analyze peripheral blood and urine; and we perform of a variety of special studies including magnetic resonance imaging (MRI), renal sonogram, echo cardiogram, and pulmonary function testing. At the conclusion of these studies, the complete team discusses the results. During a consultation with the patient and family, they share their interpretation along with specific recommendations for current and future management.

Molecular Diagnosis

We cloned the gene for a-galactosidase A, the enzyme deficient in Fabry disease, and have identified specific mutations within the gene that result in this disorder. These include small deletions of portions of the gene and point mutations, which are single mistakes in the gene that can be likened to the mistake one would find in a misspelled word. For most families, it is now possible to identify the mutation that is present in their a-galactosidase A gene permitting the diagnosis of Fabry disease and the identification of carrier females by the direct detection of the molecular defect. These analyses also have been useful in increasing our understanding of the underlying defects that result in Fabry disease.

Prenatal Diagnosis

Prenatal diagnosis is available in our laboratory for all female carriers of Fabry disease who have a 25 percent risk in each pregnancy of having an affected male. These studies require a sample of fetally derived tissue that can be obtained either by chorionic villus sampling (CVS), which can be performed as early as the ninth week of pregnancy, or by amniocentesis, which is performed at approximately 16 weeks after the last menstrual period of the pregnant woman. CVS can be performed very early in pregnancy and has the added advantage of providing results within two to three days, if an adequate sample is obtained. Amniocentesis results are not available for at least 10 days. Regardless of the method chosen, it is recommended that patients come to Mount Sinai for their procedure. However, if this presents an extreme hardship, other arrangements can be made after discussion with our Center. We encourage patients to contact our genetic counselor or one of our expert physicians.