Skip to content
Bored Studies
RecruitingAccepts healthy volunteers

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

National Human Genome Research Institute (NHGRI) · NCT02450851

View Study & Apply (opens in a new tab)

Opens the official ClinicalTrials.gov record, with the study team’s contacts. Bored Studies doesn’t enroll anyone.

Key facts

Compensation
Not posted. Ask the study team before screening.
Who can join
Ages 1 mo–100 · All sexes
Healthy volunteers
Accepted
Study type
Observational
Target enrollment
20000
US sites recruiting
24
Study start
September 16, 2015
Record last updated
October 16, 2026

Status re-checked against ClinicalTrials.gov within the last 12 hours.

What the study is about

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.

Conditions: Genetic Disease

Eligibility criteria

Copied from the official record. The study team makes the final decision at screening.

Show full criteria
  • INCLUSION CRITERIA:

Ideal participants for tier 2-4 evaluations include individuals with:

  • One or more objective findings pertinent to the phenotype for which a case was submitted.
  • No diagnosis despite evaluation by specialists who assessed the patient for the objective finding(s).
  • Agreement for the storage and sharing of information and biomaterials, in an identified fashion amongst the UDN centers, and in a de-identified fashion to research sites beyond the network.

Participants unable to consent can be enrolled.

EXCLUSION CRITERIA

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.

Recruiting US locations

  • University of Alabama at Birmingham

    Birmingham, AL 35233

    Site contact: Bruce Korf, M.D. · bkorf@uab.edu

  • University of California, Los Angeles

    Los Angeles, CA 90095

    Site contact: Stanley Nelson, M.D. · 310-794-7981 · snelson@ucla.edu

  • University of California, Irvine Medical Center

    Orange, CA 92668

    Site contact: Changrui Xiao, M.D. · 714-456-7720 · changrx@hs.uci.edu

  • Stanford University

    Stanford, CA 94305-5584

    Site contact: Euan Ashley, M.D. · 650-736-1147 · euan@stanford.edu

  • Leland Stanford Junior University

    Stanford, CA 94305

    Site contact: Euan Ashley, MD, PhD · Not Listed · euan@stanford.edu

  • Stanford Hospital and Clinics

    Stanford, CA 94305

    Site contact: Jonathan Bernstein, MD, PhD · Not Listed · jon.bernstein@stanford.edu

  • Childrens National Medical Center

    Washington D.C., DC 20010

    Site contact: Eric Vilain, M.D. · 202-476-3216 · evilain@childrensnational.org

  • University of Miami Miller School of Medicine

    Miami, FL 33136

    Site contact: Mustafa Tekin, MD · 305-243-2381 · mtekin@med.miami.edu

  • Indiana University

    Indianapolis, IN 46202-5262

    Site contact: Stephane Ware, M.D. · 317-274-8938 · stware@iu.edu

  • National Institutes of Health Clinical Center

    Bethesda, MD 20892

    Site contact: For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR) · 800-411-1222 · ccopr@nih.gov

  • Massachusetts General Hospital

    Boston, MA 02114

    Site contact: David Sweetser, M.D. · 617-726-1742 · dsweetser@partners.org

  • Boston Children s Hospital

    Boston, MA 02115

    Site contact: Ingrid Holm, M.D. · 617-919-2338 · ingrid.holm@childrens.harvard.edu

  • Brigham and Women's Hospital

    Boston, MA 02115

    Site contact: David Sweetser, M.D., Ph.D. · 617-726-1742 · dsweetser@partners.org

  • Mayo Clinic

    Rochester, MN 55905

    Site contact: Brendan Lanpher · lanpher.brendan@mayo.edu

  • Washington University in St. Louis

    St Louis, MO 63110

    Site contact: Patricia Dickson · Not Listed · pdickson@wustl.edu

  • Duke University Health System

    Durham, NC 27710

    Site contact: Vandana Shashi, MD · Not Listed · Vandana.shashi@duke.edu

  • University of Pennsylvania

    Philadelphia, PA 19104-6056

    Site contact: Daniel Rader, M.D. · rader@pennmedicine.upenn.edu

  • Children's Hospital of Philadelphia

    Philadelphia, PA 19104

    Site contact: Kathleen Sullivan, M.D. · Not Listed · sullivank@email.chop.edu

  • Vanderbilt University Medical Center

    Nashville, TN 37232

    Site contact: Rizwan Hamid, M.D. · rizwan.hamid@vumc.org

  • Baylor College of Medicine

    Houston, TX 77030

    Site contact: Brendan Lee, M.D. · 713-798-8835 · blee@bcm.edu

  • University of Utah

    Salt Lake City, UT 84112

    Site contact: Lorenzo Botto, M.D. · 801-581-8943 · lorenzo.botto@hsc.utah.edu

  • Seattle Children's Hospital

    Seattle, WA 98101

    Site contact: Katrina Dipple, MD, PhD · Not Listed · katrina.dipple@seattlechildrens.org

  • University of Washington

    Seattle, WA 98195

    Site contact: Gail Jarvik, M.D. · Not Listed · pair@uw.edu

  • Medical College of Wisconsin

    Milwaukee, WI 53226

Study contacts (from the official record)

  • Paul Mazur · (844) 746-4836 · udn@hms.harvard.edu
All healthy volunteers studies in Alabama →
Clinical and Genetic Evaluation of Individuals With Undiagnosed… (NCT02450851) | Bored Studies