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

ClinicalTrials.gov ID: NCT02450851

Public ClinicalTrials.gov record NCT02450851. Field values are reproduced from the official study page; the official ClinicalTrials.gov record remains the source of truth for eligibility, enrollment, and contact information.

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Official title

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

Brief summary

Reproduced verbatim from the official ClinicalTrials.gov record. Not medical advice.

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.

Study identification

NCT ID: NCT02450851
Recruitment status: Recruiting
Study type: Observational
Phase: Not listed
Lead sponsor: National Human Genome Research Institute (NHGRI); NIH
Enrollment: 20,000 participants

Conditions and interventions

Conditions

Genetic Disease

Interventions

Not listed

Eligibility (public fields only)

Age range: 1 Month to 100 Years
Sex: All
Healthy volunteers: Accepts healthy volunteers

This page does not interpret eligibility. Detailed inclusion and exclusion criteria are on the official ClinicalTrials.gov record.

Study timeline

Start date: Sep 15, 2015
Primary completion: Dec 30, 2028
Completion: Dec 30, 2028
Last update posted: Aug 27, 2026

2015 – 2028

United States locations

U.S. sites: 33
U.S. states: 19
U.S. cities: 24

Facility	City	State	ZIP	Site status
University of Alabama at Birmingham	Birmingham	Alabama	35233	Recruiting
HudsonAlpha Institute for Biotechnology, Inc.	Huntsville	Alabama	35806	Completed
University of California, Los Angeles	Los Angeles	California	90095	Recruiting
University of California, Irvine Medical Center	Orange	California	92668	Recruiting
Lucile Salter Packard Children's Hospital at Stanford	Stanford	California	94020	Completed
Stanford University	Stanford	California	94305-5584	Recruiting
Leland Stanford Junior University	Stanford	California	94305	Recruiting
Stanford Hospital and Clinics	Stanford	California	94305	Recruiting
Childrens National Medical Center	Washington D.C.	District of Columbia	20010	Recruiting
University of Miami Miller School of Medicine	Miami	Florida	33136	Recruiting
Lurie Children s Hospital	Chicago	Illinois	60611	Not yet recruiting
Indiana University	Indianapolis	Indiana	46202-5262	Recruiting
National Institutes of Health Clinical Center	Bethesda	Maryland	20892	Recruiting
Massachusetts General Hospital	Boston	Massachusetts	02114	Recruiting
Boston Children s Hospital	Boston	Massachusetts	02115	Recruiting
Brigham and Women's Hospital	Boston	Massachusetts	02115	Recruiting
Harvard T.H. Chan School of Public Health	Boston	Massachusetts	02115	Completed
Harvard U Faculty of Medicine	Boston	Massachusetts	02115	Not yet recruiting
Mayo Clinic	Rochester	Minnesota	55905	Recruiting
Washington University in St. Louis	St Louis	Missouri	63110	Recruiting
New York Genome Center	New York	New York	10013	Active, not recruiting
Duke University Health System	Durham	North Carolina	27710	Recruiting
University of Oregon	Eugene	Oregon	97403	Not yet recruiting
Oregon Health Sciences University	Portland	Oregon	97201-3098	Completed
University of Pennsylvania	Philadelphia	Pennsylvania	19104-6056	Recruiting
Children's Hospital of Philadelphia	Philadelphia	Pennsylvania	19104	Recruiting
Vanderbilt University Medical Center	Nashville	Tennessee	37232	Recruiting
Baylor College of Medicine	Houston	Texas	77030	Recruiting
University of Utah	Salt Lake City	Utah	84112	Recruiting
Pacific Northwest National Laboratory	Richland	Washington	99354	Completed
Seattle Children's Hospital	Seattle	Washington	98101	Recruiting
University of Washington	Seattle	Washington	98195	Recruiting
Medical College of Wisconsin	Milwaukee	Wisconsin	53226	Recruiting

Site contact phone numbers, emails, and investigator names are intentionally not displayed here. Open the official ClinicalTrials.gov record for site contact information.

About this trial record page

What this page shows: Public field values for ClinicalTrials.gov record NCT02450851, including study identification, conditions, interventions, eligibility (age, sex, healthy volunteer), timeline, and U.S. site list.
What this page does not do: No medical advice, eligibility judgments, treatment recommendations, study quality scoring, or AI-generated medical summaries. No site contact phone numbers, emails, or investigator names.
Where the data comes from: Sourced from the official ClinicalTrials.gov public API. The official record is the source of truth.
Last refresh: Last update posted Aug 27, 2026 · Synced Sep 3, 2026

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