Condition: Genetic Disease · Sponsor: National Human Genome Research Institute (NHGRI)
Without an explanation for severe and sometimes life-threatening symptoms, patients and their families are left in a state of unknown. Many individuals find themselves being passed from physician to physician, undergoing countless and often repetitive tests in the hopes of finding answers and insight about what the future may hold. This long and arduous journey to find a diagnosis does not end for many patients- the Office of Rare Diseases Research (ORDR) notes that 6% of individuals seeking their assistance have an undiagnosed disorder. In 2008, the National Institutes of Health (NIH) Undiagnosed Diseases Program (UDP) was established with the goal of providing care and answers for these individuals with mysterious conditions who have long eluded diagnosis. The NIH UDP is a joint venture of the NIH ORDR, the National Human Genome Research Institute Intramural Research Program (NHGRI-IRP), and the NIH Clinical Research Center (CRC) (1-3). The goals of the NIH UDP are to: (1) provide answers for patients with undiagnosed diseases; (2) generate new knowledge about disease mechanisms; (3) assess the application of new approaches to phenotyping and the use of genomic technologies; and (4) identify potential therapeutic targets, if possible. To date, the UDP has evaluated 3300 medical records and admitted 750 individuals with rare and undiagnosed conditions to the NIH Clinical Center. The NIH UDP has identified more than 70 rare disease diagnoses and several new conditions. The su…
This description comes directly from the study's public registry record.
Paul Mazur · (844) 746-4836 · udn@hms.harvard.edu
Always discuss trial participation with your own doctor first.
| University of Alabama at Birmingham | Birmingham, Alabama, United States | Recruiting |
| HudsonAlpha Institute for Biotechnology, Inc. | Huntsville, Alabama, United States | Completed |
| University of California, Los Angeles | Los Angeles, California, United States | Recruiting |
| University of California, Irvine Medical Center | Orange, California, United States | Recruiting |
| Lucile Salter Packard Children's Hospital at Stanford | Stanford, California, United States | Completed |
| Stanford University | Stanford, California, United States | Recruiting |
| Leland Stanford Junior University | Stanford, California, United States | Recruiting |
| Stanford Hospital and Clinics | Stanford, California, United States | Recruiting |
| Childrens National Medical Center | Washington D.C., District of Columbia, United States | Recruiting |
| University of Miami Miller School of Medicine | Miami, Florida, United States | Recruiting |
| Lurie Children s Hospital | Chicago, Illinois, United States | Not Yet Recruiting |
| Indiana University | Indianapolis, Indiana, United States | Recruiting |
+ 21 more locations — full list on the registry record.
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Source record: clinicaltrials.gov/study/NCT02450851