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NINDS is part of the
National Institutes of
Health
Scientists at the National Institute of Neurological Disorders and Stroke (NINDS) seek children with Fabry disease for a study to find out the extent of clinical and quality of life problems that affect boys or symptomatic girls with Fabry disease. The information gathered will serve to construct a trial of enzyme replacement therapy in the future.
The study includes a physical examination, and routine blood, urine, and other standard medical tests. Eligible boys are 6 to 17 years of age with Fabry disease. Eligible girls are symptomatic carriers of the same age. Children with additional illnesses such as cancer or diabetes will not be eligible.
The study will take place at the National Institutes of Health (NIH) Clinical Center in Bethesda, MD. All study-related expenses will be paid by the NIH. The study is carried out in compliance with testing and safety standards of U.S. Department of Health and Human Services.
For more information, contact Connie Kreps, RN, or Dr. Raphael Schiffmann, NINDS, NIH, Building 10, Room 3D03, 10 Center Drive MSC 1260, Bethesda, MD 20892-1260, telephone: 301-496-1465, 1-800-258-0299 (toll-free), or 301-496-1465; fax: 301-480-8354; e-mail: ck41e@nih.gov or rs4e@nih.gov.
This content has been adapted from the original NINDS Notes publication. For the most up-to-date funding information, please visit the Funding Opportunities section of the NINDS web site. For the most recent information on NINDS studies, please visit the NINDS Patient Recruitment web site.