[PNRNews] New Undiagnosed Diseases Program

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NIH Launches Undiagnosed Diseases Program

Clinical Researchers to Tackle the Most Puzzling Medical Cases

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, MD, by physicians across the nation. 

"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 the past month, is the 
culmination of efforts by William A. Gahl, M.D., Ph.D., clinical 
director at the 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 first of which is expected to be seen in 
July 2008.

"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."

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, NHGRI and ORD. Funding for the 
program includes $280,000 per year from the ORD.

In organizing the Undiagnosed Diseases Program, NIH has reached out to 
patient advocacy groups that often 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."

For more information about 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 1-866-444-8806.

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The NIH Clinical Center (CC) is the clinical research hospital for the 
National Institutes of Health. Through clinical research, 
physician-investigators translate laboratory discoveries into better 
treatments, therapies and interventions to improve the nation's health. 
For more information, visit http://clinicalcenter.nih.gov.

The NIH Office of Rare Diseases stimulates and coordinates research on 
rare diseases and supports research to respond to the needs of patients, 
healthcare providers and the research communities involved in the care, 
treatment, and evaluation of products for the prevention, diagnosis, or 
treatment of these conditions. For more information about ORD and its 
programs, visit http://rarediseases.info.nih.gov.
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