Investigators at the National Institute of Neurological Disorders and Stroke (NINDS) are seeking patients with Menkes disease—a genetic disorder affecting the metabolism of copper—for a study of early copper histidine therapy. In the study, researchers will evaluate the effects of early copper histidine in patients with Menkes disease, and correlate specific molecular defects with responses to treatment.
Eligible patients must be diagnosed at or shortly after birth as having Menkes disease.
The study will be conducted at the National Institutes of Health (NIH) Clinical Center in Bethesda, MD. All study-related expenses will be paid by the NIH. The study will be carried out under testing and safety standards of the U.S. Department of Health and Human Services.
For more information, physicians should send a referral letter and a copy of the patient's recent medical records to Dr. Stephen Kaler, NINDS, NIH, Building 31, Room 1B-03, 31 Center Drive MSC 2082, Bethesda, MD 20892-2082; telephone: (301) 496-8368; fax: (301) 402-1073; email: email@example.com.