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

NCT02450851

This study is recruiting at 24 US sites in 16 states, according to its ClinicalTrials.gov record last updated .

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.

Shortened from the sponsor's brief summary. View official record on ClinicalTrials.gov

Conditions studied

  • Genetic Disease

Eligibility basics and study details

Study type
Observational
Phase
Not applicable
Ages
1 month to 100 years
Sex
All
Healthy volunteers
Accepted
Sponsor
National Human Genome Research Institute (NHGRI)
Last updated on ClinicalTrials.gov
October 13, 2026

These are the basic criteria only. The full inclusion and exclusion criteria are on the official record, and the study team decides who can take part.

US recruiting sites

Alabama · 1

  • University of Alabama at Birmingham · Birmingham, AL

California · 5

  • University of California, Los Angeles · Los Angeles, CA
  • University of California, Irvine Medical Center · Orange, CA
  • Leland Stanford Junior University · Stanford, CA
  • Stanford Hospital and Clinics · Stanford, CA
  • Stanford University · Stanford, CA

District of Columbia · 1

  • Childrens National Medical Center · Washington D.C., DC

Florida · 1

  • University of Miami Miller School of Medicine · Miami, FL

Indiana · 1

  • Indiana University · Indianapolis, IN

Maryland · 1

  • National Institutes of Health Clinical Center · Bethesda, MD

Massachusetts · 3

  • Boston Children s Hospital · Boston, MA
  • Brigham and Women's Hospital · Boston, MA
  • Massachusetts General Hospital · Boston, MA

Minnesota · 1

  • Mayo Clinic · Rochester, MN

Missouri · 1

  • Washington University in St. Louis · St Louis, MO

North Carolina · 1

  • Duke University Health System · Durham, NC

Pennsylvania · 2

  • Children's Hospital of Philadelphia · Philadelphia, PA
  • University of Pennsylvania · Philadelphia, PA

Tennessee · 1

  • Vanderbilt University Medical Center · Nashville, TN

Texas · 1

  • Baylor College of Medicine · Houston, TX

Utah · 1

  • University of Utah · Salt Lake City, UT

Washington · 2

  • Seattle Children's Hospital · Seattle, WA
  • University of Washington · Seattle, WA

Wisconsin · 1

  • Medical College of Wisconsin · Milwaukee, WI

Source: ClinicalTrials.gov, data processed . Recruiting US sites filtered by distance and site status; summaries shortened.