Clinical Research Program to Tackle the Most Puzzling Medical Cases

U.S. officials announced a new clinical research program that will try to provide answers to patients with mysterious conditions that have long eluded diagnosis.

Called the Undiagnosed Diseases Program, the trans-U.S. National Institutes of Health (NIH; Bethesda, MD, USA) initiative will focus on the most puzzling medical cases referred to the NIH Clinical Center in Bethesda, MD, USA, by physicians across the United States.

"A small number of patients suffer from symptoms that do not correspond to known conditions, making their care and treatment extraordinarily difficult. However, the history of biomedical research has taught us that careful study of baffling cases can provide new insights into the mechanisms of disease--both rare and common,” said NIH director Elias A. Zerhouni, M.D., who has made a point during his six-year tenure at NIH of encouraging trans-NIH initiatives. "The goal of NIH's Undiagnosed Diseases Program is two-pronged: to improve disease management for individual patients and to advance medical knowledge in general.”

The new program, which got under way over in April 2008, is the culmination of efforts by William A. Gahl, M.D., Ph.D., clinical director at the U.S. National Human Genome Research Institute (NHGRI), part of the NIH; John I. Gallin, M.D., director of the NIH Clinical Center; and Stephen Groft, Pharm.D., director of the NIH Office of Rare Diseases (ORD). With the program infrastructure now in place, the program is ready to accept patients.

"The NIH Clinical Center, the nation's clinical research hospital, provides an extraordinary environment for excellence in both patient care and collaborative clinical investigation,” said Dr. Gallin. "This new program will capitalize on a rich set of skills already at the Clinical Center to help patients with unusual medical conditions. These patients partner with us in clinical research to identify new diseases or new treatment.”

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. Dr. Gahl, who is an expert on rare genetic diseases, will serve as director of the new program. "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.”

In organizing the Undiagnosed Diseases Program, the NIH has reached out to patient advocacy groups that frequently serve as a source of information and support for people struggling with mysterious ailments. "We hope to build upon our strong working relationships with many patient advocacy groups. These organizations provide a crucial link in our nation's efforts to improve human health through biomedical research,” said Dr. Groft. "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.”


Related Links:
Undiagnosed Diseases Program
[U.S.] National Institutes of Health
NIH Clinical Center