New program promises to solve puzzling medical cases

May 21 2008

A new research program in the U.S. promises to provide some answers for people suffering from mysterious diseases that have defied diagnosis.

The National Institutes of Health (NIH) will conduct a new clinical trial which will focus on some of the most puzzling medical cases.

The Undiagnosed Diseases Program, will take cases referred to the NIH Clinical Center in Bethesda by doctors across the U.S.

NIH Director Dr Elias A. Zerhouni says a small number of patients suffer from symptoms that do not correspond to known conditions, making their care and treatment extraordinarily difficult.

Dr. Zerhouni says the history of biomedical research shows that careful study of baffling cases can provide new insights into the mechanisms of disease - both rare and common.

The program aims to improve disease management for individual patients and to advance medical knowledge in general.

The new program, which is currently underway will accept the first patients in July who will be seen by an impressive team of 25 doctors offering a range of skills and expertise including endocrinology, immunology, oncology, dermatology, dentistry, cardiology and genetics.

Dr. William Gahl, an expert on rare genetic diseases is the director of the new program and he says a stringent referral process will ensure only those cases that have truly confounded medical experts will be enrolled.

Dr. Gahl says the focus will be strictly on conditions that have not been diagnosed.

To be eligible for the pilot program, a patient must be referred by a doctor and provide all medical records and diagnostic test results requested.

The program will offer hope to families who often have exhausted all other options.

As many as 100 each year are expected to be enrolled and they will then undergo additional evaluation during a visit to the NIH Clinical Center that may take up to a week.

Patient recruitment and logistics for the new program will be done by two nurses and the existing facilities and staff already at the NIH Clinical Center, will be utilized.