Clinical and Genetic Evaluation of Individuals With Undiagnosed Disorders Through the Undiagnosed Diseases Network

Recruiting now

Conditions studied: Genetic Disease

In brief

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 success of the NIH UDP prompted the NIH Common Fund to support the establishment of a network of medical research centers, the Undiagnosed Diseases Network (UDN), for fiscal years 2013-2020. The clinical sites will perform extensive phenotyping, genetic analyses, and functional studies of potential disease-causing variants. The testing performed on patients involves medically indicated studies intended to help reach a diagnosis, as well as research investigations that include a skin biopsy, blood draws, and DNA analysis. In addition, the UDN will further the goals of the UDP by permitting the sharing of personally identifiable phenotypic and genotypic information within the network. By sharing participant information and encouraging collaboration, the UDN hopes to improve the understanding of rare conditions and advance the diagnostic process and care for individuals with undiagnosed diseases.

Key facts

Study ID

NCT02450851

Run by

National Human Genome Research Institute (NHGRI)

People needed

20000

Starts

2015-09-16

Expected to finish

2028-12-31

Last updated by the study team

2026-07-28

Who can join

Age: 0 and older, up to 100. Sex: any. Healthy volunteers: accepted.

You may not qualify if…

• Individuals who are unlikely to be assigned to tier 2-4 evaluations include those with:
• Reported symptoms with no relevant objective findings.
• A diagnosis explaining objective findings.
• A diagnosis suggested on record review.
• Unwillingness to share data.

Where it is running

• University of Alabama at Birmingham — Birmingham, Alabama, United States (enrolling)
• Duke University Health System — Durham, North Carolina, United States (enrolling)
• University of Pennsylvania — Philadelphia, Pennsylvania, United States (enrolling)
• Children's Hospital of Philadelphia — Philadelphia, Pennsylvania, United States (enrolling)
• Vanderbilt University Medical Center — Nashville, Tennessee, United States (enrolling)
• Baylor College of Medicine — Houston, Texas, United States (enrolling)
• University of Utah — Salt Lake City, Utah, United States (enrolling)
• Seattle Children's Hospital — Seattle, Washington, United States (enrolling)
• University of Washington — Seattle, Washington, United States (enrolling)
• Medical College of Wisconsin — Milwaukee, Wisconsin, United States (enrolling)
• University of California, Los Angeles — Los Angeles, California, United States (enrolling)
• University of California, Irvine Medical Center — Orange, California, United States (enrolling)
• Stanford University — Stanford, California, United States (enrolling)
• Leland Stanford Junior University — Stanford, California, United States (enrolling)
• Stanford Hospital and Clinics — Stanford, California, United States (enrolling)
• Childrens National Medical Center — Washington D.C., District of Columbia, United States (enrolling)
• University of Miami Miller School of Medicine — Miami, Florida, United States (enrolling)
• Indiana University — Indianapolis, Indiana, United States (enrolling)
• National Institutes of Health Clinical Center — Bethesda, Maryland, United States (enrolling)
• Massachusetts General Hospital — Boston, Massachusetts, United States (enrolling)
• Boston Children s Hospital — Boston, Massachusetts, United States (enrolling)
• Brigham and Women's Hospital — Boston, Massachusetts, United States (enrolling)
• Mayo Clinic — Rochester, Minnesota, United States (enrolling)
• Washington University in St. Louis — St Louis, Missouri, United States (enrolling)
• HudsonAlpha Institute for Biotechnology, Inc. — Huntsville, Alabama, United States

Full record on ClinicalTrials.gov

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