Scientists at the National Institute of Neurological Disorders and Stroke (NINDS) seek adults and children 12 years of age or older with neuronopathic Gaucher disease who are currently being treated with enzyme replacement therapy for a study of an investigational oral treatment for the disorder. It is hoped that this drug will be an effective treatment for the neurological symptoms of this disease.
Patients will be screened to determine eligibility. Initially, the duration of the study will be 12 months. Eligible patients will be required to visit the clinic at regular 3-month intervals. 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.
For more information, physicians should contact 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); fax: 301-480-8354.