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

Sponsor
National Human Genome Research Institute (NHGRI) (NIH)
Overall Status
Recruiting
CT.gov ID
NCT02450851
Collaborator
(none)
16,000
Enrollment
20
Locations
159.5
Anticipated Duration (Months)
800
Patients Per Site
5
Patients Per Site Per Month

Study Details

Study Description

Brief Summary

Background:
  • Without an explanation for severe and sometimes life-threatening symptoms, patients and their families are left in a state of unknown. The NIH helped create a network of medical research centers, called the Undiagnosed Diseases Network (UDN), to provide care and answers for these individuals.
Objectives:
  • To improve diagnosis and care for people with undiagnosed diseases.
Eligibility:
  • People with undiagnosed diseases, and their relatives.
Design:

  • Participants will travel to one of the UDN medical centers for a 5-day clinical and research visit.

  • As part of the visit, UDN healthcare providers may ask participants to have:

  • Clinically indicated tests and procedures performed including:

  • A physical exam

  • Blood and urine tests

  • A review of health and family history

  • X-rays and body scans

  • Surveys

  • Photographs of the face and body

  • A special diet to see if the body can handle the food without having a reaction, like vomiting

  • Video or voice recordings

  • Other tests and procedures to help reach a diagnosis

  • Research tests and procedures performed including:

  • A skin biopsy. For this, a small piece of skin will be taken.

  • Surveys

  • Other tests and procedures for research that may not be related to a diagnosis or treatment.

  • Most participants will be asked to give samples for genetic testing.

  • Participants may be contacted after their visit to discuss test results. They may also be contacted in the future for interviews and surveys.

  • Relatives of participants may be asked to give samples for genetic testing. They may be asked to have parts of their visit recorded and to have additional tests. They may also be contacted in the future for interviews and surveys.

  • Clinical and research information collected will be stored in a database.

  • Information and samples collected will be shared with others for research purposes.

Condition or Disease Intervention/Treatment Phase

    Detailed Description

    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). 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. Prior to formation of the Undiagnosed Diseases Network (UDN), the UDP had evaluated 3300 medical records, admitted 750 individuals with rare and undiagnosed conditions to the NIH Clinical Center, and 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 UDN, for fiscal years 2013-2022. The clinical sites 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 is furthering 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 Design

    Study Type:
    Observational
    Anticipated Enrollment :
    16000 participants
    Observational Model:
    Case-Only
    Time Perspective:
    Prospective
    Official Title:
    Clinical and Genetic Evaluation of Patients With Undiagnosed Disorders Through the Undiagnosed Diseases Network
    Actual Study Start Date :
    Sep 16, 2015
    Anticipated Primary Completion Date :
    Dec 31, 2028
    Anticipated Study Completion Date :
    Dec 31, 2028

    Arms and Interventions

    Arm Intervention/Treatment
    Undiagnosed disorders

    Patients with rare, undiagnosed disorders.

    Outcome Measures

    Primary Outcome Measures

    1. Improve the level of diagnosis and care for patients with undiagnosed diseases through the development of common and site-specific protocols designed by an enlarged community of investigators [Inpatient stay Day 1-5 and followup]

      Improve the level of diagnosis and care for patients with undiagnosed diseases through the development of common and site-specific protocols designed by an enlarged community of investigators.

    2. Facilitate research into the etiology of undiagnosed diseases, by collecting and sharing standardized, high-quality clinical and laboratory data including genotyping, phenotyping, and documentation of environmental exposures [Inpatient stay Day 1-5 and followup]

      Facilitate research into the etiology of undiagnosed diseases, by collecting and sharing standardized, high-quality clinical and laboratory data including genotyping, phenotyping, and documentation of environmental exposures.

    3. Create an integrated and collaborative research community across multiple clinical sites and between laboratory and clinical investigators prepared to investigate the pathophysiology of these new and rare diseases, the impact of the diagnostic p... [Inpatient stay Day 1-5 and followup]

      Create an integrated and collaborative research community across multiple clinical sites and between laboratory and clinical investigators prepared to investigate the pathophysiology of these new and rare diseases, the impact of the diagnostic process on patients and families, and share this understanding to identify improved options for optimal patient management.

    Eligibility Criteria

    Criteria

    Ages Eligible for Study:
    N/A to 100 Years
    Sexes Eligible for Study:
    All
    Accepts Healthy Volunteers:
    Yes

    • INCLUSION CRITERIA:

    • Ideal applicants to the UDN include individuals with:

    • One or more objective findings pertinent to the phenotype for which a UDN application was submitted.

    • No diagnosis despite evaluation by at least two 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.

    • Applicants unable to consent can be enrolled.

    EXCLUSION CRITERIA:

    -Applicants who are unlikely to be accepted include individuals with:

    • Reported symptoms with no relevant objective findings.

    • A diagnosis explaining objective findings.

    • A diagnosis suggested on record review.

    • Unwillingness to share data.

    Contacts and Locations

    Locations

    Site City State Country Postal Code
    1 University of Alabama Birmingham Alabama United States 35233
    2 University of California, Los Angeles Los Angeles California United States 90095
    3 Lucille Salter Packer Children's Hospital at Stanford Stanford California United States 94020
    4 Stanford University Stanford California United States 94305-5584
    5 Leland Stanford Junior University Stanford California United States 94305
    6 Stanford Hospital and Clinics Stanford California United States 94305
    7 University of Miami Miller School of Medicine Miami Florida United States 33136
    8 National Institutes of Health Clinical Center Bethesda Maryland United States 20892
    9 Massachusetts General Hospital Boston Massachusetts United States 02114
    10 Boston Children s Hospital Boston Massachusetts United States 02115
    11 Brigham and Women's Hospital Boston Massachusetts United States 02115
    12 Mayo Clinic Rochester Minnesota United States 55905
    13 Washington University in St. Louis Saint Louis Missouri United States 63110
    14 University of Pennsylvania Philadelphia Pennsylvania United States 19104-6056
    15 Childrens Hospital of Philadelphia Philadelphia Pennsylvania United States 19104
    16 Vanderbilt University Medical Center Nashville Tennessee United States 37232
    17 Baylor College of Medicine Houston Texas United States 77030
    18 University of Utah Salt Lake City Utah United States 84112
    19 Seattle Children's Hospital Seattle Washington United States 98101
    20 University of Washington Seattle Washington United States 98195

    Sponsors and Collaborators

    • National Human Genome Research Institute (NHGRI)

    Investigators

    • Principal Investigator: William A Gahl, M.D., National Human Genome Research Institute (NHGRI)

    Study Documents (Full-Text)

    None provided.

    More Information

    Additional Information:

    Publications

    None provided.
    Responsible Party:
    National Human Genome Research Institute (NHGRI)
    ClinicalTrials.gov Identifier:
    NCT02450851
    Other Study ID Numbers:
    • 150130
    • 15-HG-0130
    First Posted:
    May 21, 2015
    Last Update Posted:
    Jul 14, 2022
    Last Verified:
    Jul 12, 2022
    Studies a U.S. FDA-regulated Drug Product:
    No
    Studies a U.S. FDA-regulated Device Product:
    No
    Keywords provided by National Human Genome Research Institute (NHGRI)
    Rare Diseases
    Undiagnosed Diseases
    Natural History
    Additional relevant MeSH terms:
    Genetic Diseases, Inborn
    Undiagnosed Diseases

    Study Results

    No Results Posted as of Jul 14, 2022