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Clinical and Genetic Evaluation of Individuals With Undiagnosed Disorders Through the Undiagnosed Diseases Network
NCT02450851 · View on ClinicalTrials.gov ↗
Study Summary
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
Conditions Studied
Study Locations (20)
California
- University of California, Los Angeles — Los Angeles
- University of California, Irvine Medical Center — Orange
- Lucile Salter Packard Children's Hospital at Stanford — Stanford
- Stanford University — Stanford
- Leland Stanford Junior University — Stanford
- Stanford Hospital and Clinics — Stanford
Massachusetts
- Massachusetts General Hospital — Boston
- Boston Children s Hospital — Boston
- Brigham and Women's Hospital — Boston
- Harvard T.H. Chan School of Public Health — Boston
- Harvard U Faculty of Medicine — Boston
Alabama
- University of Alabama at Birmingham — Birmingham
- HudsonAlpha Institute for Biotechnology, Inc. — Huntsville
District of Columbia
- Childrens National Medical Center — Washington D.C.
Florida
- University of Miami Miller School of Medicine — Miami
Illinois
- Lurie Children s Hospital — Chicago
Indiana
- Indiana University — Indianapolis
Maryland
- National Institutes of Health Clinical Center — Bethesda
Trial Details
| Field | Value |
|---|---|
| Enrollment Target | 20,000 participants |
| Start Date | 2015-09-16 |
| Est. Completion | 2028-12-31 |
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Full Details on ClinicalTrials.gov ↗What the Registry Record Tells You About NCT02450851
The ClinicalTrials.gov registry entry for NCT02450851 describes a study currently listed as recruiting. It is categorized as an unspecified phase, which is the standard way researchers label where a study sits along the investigational pathway from early safety work through later efficacy and post-marketing evaluation. The registered enrollment target is 20,000 participants, a figure that helps gauge the scale of data the investigators plan to collect. The listed sponsor is National Human Genome Research Institute (NHGRI), which has 242 total studies on file at ClinicalTrials.gov, and sponsors are the parties responsible for study design, oversight, and regulatory filings.
The record links to 1 condition, with Genetic Disease appearing as the primary indexed condition, and to 0 interventions. Interventions can include drugs, devices, procedures, behavioral programs, or observational arms, and each is tracked as a separate registry field so that downstream queries can filter accurately. When a trial lists multiple interventions, it usually reflects a multi-arm design or a comparison protocol rather than a single treatment being tested in isolation. The brief summary published in the registry is the clearest source of protocol intent and should be read before drawing conclusions from any sidebar tags.
Geographic footprint matters for practical reasons: NCT02450851 reports 20 study locations spanning 10 distinct geographic areas — top geographies include California, Massachusetts, Alabama. A larger site network tends to correlate with broader recruitment capacity, but it does not imply anything about study quality, and site-level enrollment status can diverge from the overall registry status shown above. Every data point on this page comes from the public ClinicalTrials.gov dataset and is reproduced here for reference only; it is not a medical recommendation, an endorsement of the sponsor, or an invitation to enroll. Verify current status, eligibility criteria, and contact details directly at ClinicalTrials.gov, and discuss any participation decision with your own healthcare provider.
Frequently Asked Questions
What is clinical trial NCT02450851 about?
NCT02450851 is a clinical study titled "Clinical and Genetic Evaluation of Individuals With Undiagnosed Disorders Through the Undiagnosed Diseases Network". 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 insigh...
What is the current status of trial NCT02450851?
This trial is currently recruiting. The enrollment target is 20,000 participants. The study started on 2015-09-16. Estimated completion is 2028-12-31.
What conditions does trial NCT02450851 study?
This clinical trial studies the following conditions: Genetic Disease. These conditions were identified from the trial registry and reflect the primary focus areas of the research.
Who is sponsoring clinical trial NCT02450851?
This trial is sponsored by National Human Genome Research Institute (NHGRI), which has 242 total clinical trials registered on ClinicalTrials.gov. The sponsor is responsible for the study's design, funding, and regulatory compliance.
Where is trial NCT02450851 being conducted?
This trial has 20 study locations across Alabama, California, District of Columbia, Florida, Illinois. Contact the study sites directly through ClinicalTrials.gov for enrollment availability.
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