Clinical and Genetic Evaluation of Individuals With Undiagnosed Disorders Through the Undiagnosed Diseases Network (NCT02450851)
Clinical and Genetic Evaluation of Patients With Undiagnosed Disorders Through the Undiagnosed Diseases Network
🩺 Plain-English Summary (8th-Grade Level)
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.
Who can join: Review the eligibility criteria below.
Location: University of Alabama at Birmingham — Birmingham, Alabama
Age range: 1 Month to 100 Years
📋 "Do I Qualify?" — 1-Minute Self Screener
Instant ChecklistFull eligibility criteria are available on the official NIH protocol. View the criteria ↗
📍 All Participating Trial Locations (33 Sites)
Showing the first 25 of 33 sites.
- University of Alabama at Birmingham — Birmingham, Alabama
- HudsonAlpha Institute for Biotechnology, Inc. — Huntsville, Alabama
- University of California, Los Angeles — Los Angeles, California
- University of California, Irvine Medical Center — Orange, California
- Lucile Salter Packard Children's Hospital at Stanford — Stanford, California
- Stanford University — Stanford, California
- Leland Stanford Junior University — Stanford, California
- Stanford Hospital and Clinics — Stanford, California
- Childrens National Medical Center — Washington D.C., District of Columbia
- University of Miami Miller School of Medicine — Miami, Florida
- Lurie Children s Hospital — Chicago, Illinois
- Indiana University — Indianapolis, Indiana
- National Institutes of Health Clinical Center — Bethesda, Maryland
- Massachusetts General Hospital — Boston, Massachusetts
- Boston Children s Hospital — Boston, Massachusetts
- Brigham and Women's Hospital — Boston, Massachusetts
- Harvard T.H. Chan School of Public Health — Boston, Massachusetts
- Harvard U Faculty of Medicine — Boston, Massachusetts
- Mayo Clinic — Rochester, Minnesota
- Washington University in St. Louis — St Louis, Missouri
- New York Genome Center — New York, New York
- Duke University Health System — Durham, North Carolina
- University of Oregon — Eugene, Oregon
- Oregon Health Sciences University — Portland, Oregon
- University of Pennsylvania — Philadelphia, Pennsylvania
📞 Contact the Study Coordinator
Phone: (844) 746-4836
Email: udn@hms.harvard.edu
Coordinator details come directly from the registered NIH protocol. Confirm the study is still recruiting before traveling.
💰 Cost, Insurance & Patient Rights
- 100% Free Items: The investigational treatment and protocol-required procedures are supplied at zero cost by the sponsor.
- Routine Patient Care: Under federal law (ACA § 2709) and many state statutes, routine care costs are covered during participation.
- Voluntary Participation: You may withdraw at any time without affecting your standard medical care.
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💡 How to Participate
- Check the checklist above to see if you may qualify.
- Contact the study coordinator using the phone/email above.
- Ask about the visit schedule, what is covered at no cost, and any travel support.
- Confirm with your own doctor before making a decision.