A cross-sectional study of renal function in treatment-naive young male patients with Fabry disease

Fabry disease, Pediatric
Virginia Kimonis, MD
UC Irvine Institute for Clinical and Translational Science, Irvine campus

The purpose of this study is to collect information about Fabry disease in patients who have never received treatment with enzyme replacement therapy. The information we collect in this study may be compared to information collected from patients receiving enzyme replacement therapy in other clinical studies. It is hoped that this comparison will allow physicians to make better decisions on when to begin treatment and how to manage Fabry disease patients.

Male subjects who are between 5 and 25 years old and have been diagnosed with Fabry disease by genetic testing, and who have not received enzyme replacement therapy or oral pharmacological chaperone therapy.

The study lasts for approximately 12 weeks. This study consists of screening visit with blood draws, urine test, physical exam and a questionnaire. After a medication washout there will be clinical investigation visit(s) and a follow-up phone call. At the clinical investigation visit(s) the subject will receive a physical exam, blood draws, urine tests, ECG and echocardiography.

Participating in this study can be of benefit to other patients with Fabry disease, as the information obtained from this study may help gain an understanding of how to better manage and understand Fabry disease.

Patients may receive up to $1,000 per visit for their travels. If it is necessary for the patient to stay overnight, they will be reimbursed for hotel costs up to $100 per night for a maximum of three (3) nights.

Margaret Knight, study coordinator