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NCT02450851 · ClinicalTrials.gov registry record

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

A clinical trial of Genetic Disease, sponsored by National Human Genome Research Institute (NHGRI).

Recruiting
Registry status
20,000
Enrollment target
20
Study locations

NCT02450851 is a study of Genetic Disease that is actively recruiting participants, run by National Human Genome Research Institute (NHGRI). The registered enrollment target is 20,000 participants, above the 1,895-participant average among 30 other Genetic Disease trials with a reported enrollment target (955% higher). The trial reports 20 study locations across 10 states.

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The verdict

NCT02450851, a study of Genetic Disease, is actively recruiting participants, sponsored by National Human Genome Research Institute (NHGRI).

RECRUITING
Registry status
20,000 participants
Enrollment target
20
Study locations

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

FieldValue
Enrollment Target 20,000 participants
Start Date 2015-09-16
Est. Completion 2028-12-31

What the Registry Record Tells You About NCT02450851

The ClinicalTrials.gov registry entry for NCT02450851 describes a study currently listed as recruiting, categorized as an unspecified phase. The registered enrollment target is 20,000 participants, a figure that helps gauge the scale of data the investigators plan to collect, above the 1,895-participant average among 30 other Genetic Disease trials with a reported enrollment target (955% higher). The listed sponsor is National Human Genome Research Institute (NHGRI), which has 185 total studies on file at ClinicalTrials.gov.

The record links to 1 condition, with Genetic Disease appearing as the primary indexed condition, and to 0 interventions.

NCT02450851 reports 20 study locations spanning 10 distinct geographic areas - top geographies include California, Massachusetts, Alabama.

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.

Who is sponsoring clinical trial NCT02450851?

This trial is sponsored by National Human Genome Research Institute (NHGRI), which has 185 total clinical trials registered on ClinicalTrials.gov.

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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Data sourced from official public datasets. See our methodology for details. Retrieved and formatted by PlainTrial Editorial

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