NIH orphan diseases program
This trans-NIH program has two main goals:
To provide answers to patients with mysterious conditions that have long eluded diagnosis and
To advance medical knowledge about rare and common diseases.
How will the program define an undiagnosed disease?
Any medical condition that eludes diagnosis by a referring physician can be considered undiagnosed and may be of interest to this pilot study. Some patients wait years for a definitive diagnosis. For this study, only a fraction of cases referred will be invited to proceed in the study at the discretion of the programs medical team.
What is a rare disease?
A rare disease is generally considered to have a prevalence of fewer than 200, 000 affected individuals in the United States.
How will the program work?
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 physicians assistant).
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 should be sent on CD.
- Referring physicians of pediatric patients should also send prenatal and birth history, growth curves, and photos or videos of the patient. Family history, at least of the nuclear family, should also be provided.
Ask for and keep a copy of these materials for yourself, as the chart sent to the NIH will not be returned. Because of patient confidentiality considerations, no email submissions will be accepted. Your referring physician must mail the summary letter and related materials to:
National Human Genome Research Institute
National Institutes of Health
Undiagnosed Diseases Program
10 Center Drive - MSC 1851, Building 10, Room 10C103
The Undiagnosed Diseases Program staff will notify you by mail when the information from your physician has been received and if additional information is required before the chart can be reviewed.