The National Institutes of Health (NIH) has announced a new clinical research program that will aim to provide answers to patients with mysterious conditions that have long eluded diagnosis. Called the Undiagnosed Diseases Program, the trans-NIH initiative will focus on the most puzzling medical cases referred to the NIH Clinical Center in Bethesda, Maryland, by physicians across the nation. The new program got underway in April; and with the new program infrastructure now in place, the program is ready to accept patients, the first of which is expected to be seen in July 2008.
To evaluate each patient enrolled in the new program, NIH will enlist the expertise of more than 25 of its senior attending physicians, whose specialties include endocrinology, immunology, oncology, dermatology, dentistry, cardiology, and genetics. The director of the new program will be William A. Gahl, M.D., Ph.D., clinical director at the National Human Genome Research Institute (NHGRI), part of the NIH. Dr. Gall is an expert on rare genetic diseases.
"We have developed a stringent referral process to ensure this program deals with those cases that have truly confounded medical experts," Dr. Gahl said. "We will be very selective when it comes to patient eligibility. Our focus is strictly on conditions that have not been diagnosed."
To be considered for this NIH pilot program, a patient must be referred by a physician and provide all medical records and diagnostic test results requested by NIH. Patients who meet the program's criteria--as many as 100 each year--will then be asked to undergo additional evaluation during a visit to the NIH Clinical Center that may take up to a week. Two nurse practitioners will manage patient recruitment and logistics for the new program, which will utilize existing facilities and staff already at the NIH Clinical Center, National Human Genome Research Institute, and NIH Office of Rare Disorders (ORD).
"We hope to build upon our strong working relationships with many patient advocacy groups," said Dr. Stephen Groft, Pharm.D., director of ORD. "These organizations provide a crucial link in our nation's efforts to improve human health through biomedical research. We hope that this new partnership of NIH researchers, advocacy groups, and patients will give hope for many Americans who now face troubling medical symptoms with no clear diagnosis."
For more information on the Undiagnosed Diseases Program, go to http://rarediseases.info.nih.gov/Undiagnosed. Physicians and patients with specific inquiries may call the NIH Clinical Center clinical information research line, at 1-800-444-8806.
Source: NIH News, National Institutes of Health, May 20, 2008
