Investigators at the National Institute of Neurological Disorders and Stroke (NINDS) seek individuals with Fabry disease for a study to collect information about the disorder that will be critical to the design of future clinical trials of an investigational, new oral drug used to treat certain individuals with Fabry disease.
Eligible participants are males, age 18 years or older with Fabry disease whose mutated alpha-galactosidase A enzyme can be made more active. People with significant medical disorders other than Fabry disease may be ineligible to participate.
Participants will undergo a series of tests and procedures over 5 days (5-8 hours per day as inpatients).
The study will take place at the NIH Clinical Center in Bethesda, MD. All travel arrangements to and from NIH will be coordinated through the Developmental and Metabolic Neurology Branch (DMNB) under the supervision of Ms. Cheryl Hipple (1-800-258-0299). Although the costs of travel may be reimbursed by NIH on many occasions, this cannot always be guaranteed. Participants will bear no direct costs for any of the tests performed at the NIH Clinical Center.
For more information, contact the principal investigator, Dr. Raphael Schiffmann, DMNB, NINDS, NIH, Building 10, Room 3D03, 10 Center Drive MSC 1260, Bethesda, MD 20892-1260, telephone: 301-496-1465, fax: 301-480-8354, email: firstname.lastname@example.org. Please refer to study number 05-N-0129. More information on this study can be found at http://www.clinicaltrials.gov/ct/show/NCT00106912?order=5.