NIH Undiagnosed Diseases Program

The National Institutes of Health (NIH) states the Undiagnosed Diseases Program has two main goals:

• To provide answers to patients with mysterious conditions that have long eluded diagnosis
• To advance medical knowledge about rare and common diseases.

Any medical condition that eludes diagnosis by a referring physician can be considered undiagnosed and may be of interest to this program.

Generally, physicians may refer individuals for this program who:

• Are at least six months old.
• Have a disease or condition that remains undiagnosed despite ongoing care and follow up by a physician or other health-care provider.
• Are able to travel.

If you are interested in participating in this clinical research program, discuss the option with your primary physician or health-care provider (nurse practitioner or physician assistant).

Information specialists at the Clinical Centers Patient Recruitment Call Center (1-866-444-8806) can provide more information about eligibility and what kinds of medical information referring physicians must submit for review by the programs medical team. You or your health-care provider can call. Patients must be referred by a physician or health-care provider.

Information your physician must provide directly to NIH includes:

• A summary letter describing your condition, when it was first noted and your current health status
• A list of treatments and medications that have already been tried and their effects
• Copies of reports and results of pertinent diagnostic tests, along with X-rays, MRI results, and other imaging records/studies. Copies of the actual imaging studies are preferred.

The program's medical team will review the information submitted for each case. Cases meeting the criteria for participation will be presented to the Undiagnosed Diseases Program's board of specialists for further consideration. Plans call for inviting 50 to 100 patient participants to the NIH annually for a thorough evaluation and consultation.

If your case is accepted for NIH evaluation, NIH will provide information from the evaluation to you and to your health-care provider, who will be responsible for your medical care after you leave the NIH. In this manner, follow-up care will be assured.

You may be asked to provide copies of additional medical records and to travel to the NIH Clinical Center in Bethesda, Maryland, for comprehensive medical evaluations. This will be a 2-5 day visit for inpatient and/or outpatient care.

Participants in the program will be evaluated using the unique combination of scientific and medical expertise and resources at the NIH Clinical Center in Bethesda, Maryland. Dozens of NIH's senior attending physicians will consult on the cases and evaluations. The referring provider and patient will receive the information resulting from NIH's evaluation as a part of this program.

There is no charge for participating in this research program at the Clinical Center. Travel, meals and lodging expenses may be covered for research participants according to NIH policies.

The Undiagnosed Diseases Program at the National Institutes of Health Frequently Asked Questions