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

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ClinicalTrials.gov Identifier: NCT02450851
Recruitment Status : Recruiting
First Posted : May 21, 2015
Last Update Posted : January 30, 2023
Sponsor:
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Human Genome Research Institute (NHGRI) )

Tracking Information
First Submitted Date May 19, 2015
First Posted Date May 21, 2015
Last Update Posted Date January 30, 2023
Actual Study Start Date September 16, 2015
Estimated Primary Completion Date December 31, 2028   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: November 11, 2021)
  • 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 [ Time Frame: 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.
  • 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 [ Time Frame: 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.
  • 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... [ Time Frame: 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.
Original Primary Outcome Measures
 (submitted: May 19, 2015)
Making a diagnosis [ Time Frame: Admission and ad hoc after that ]
Change History
Current Secondary Outcome Measures Not Provided
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Clinical and Genetic Evaluation of Individuals With Undiagnosed Disorders Through the Undiagnosed Diseases Network
Official Title Clinical and Genetic Evaluation of Patients With Undiagnosed Disorders Through the Undiagnosed Diseases Network
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.
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 Type Observational
Study Design Observational Model: Case-Only
Time Perspective: Prospective
Target Follow-Up Duration Not Provided
Biospecimen Not Provided
Sampling Method Non-Probability Sample
Study Population Individuals with undiagnosed conditions
Condition Genetic Disease
Intervention Not Provided
Study Groups/Cohorts Undiagnosed disorders
Patients with rare, undiagnosed disorders.
Publications *

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Recruiting
Estimated Enrollment
 (submitted: March 8, 2019)
16000
Original Estimated Enrollment
 (submitted: May 19, 2015)
8000
Estimated Study Completion Date December 31, 2028
Estimated Primary Completion Date December 31, 2028   (Final data collection date for primary outcome measure)
Eligibility Criteria
  • 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.
Sex/Gender
Sexes Eligible for Study: All
Ages up to 100 Years   (Child, Adult, Older Adult)
Accepts Healthy Volunteers Yes
Contacts
Contact: Paul Mazur (844) 746-4836 paul_mazur@hms.harvard.edu
Listed Location Countries United States
Removed Location Countries  
 
Administrative Information
NCT Number NCT02450851
Other Study ID Numbers 150130
15-HG-0130
Has Data Monitoring Committee Not Provided
U.S. FDA-regulated Product
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
IPD Sharing Statement Not Provided
Current Responsible Party National Institutes of Health Clinical Center (CC) ( National Human Genome Research Institute (NHGRI) )
Original Responsible Party Same as current
Current Study Sponsor National Human Genome Research Institute (NHGRI)
Original Study Sponsor Same as current
Collaborators Not Provided
Investigators
Principal Investigator: William A Gahl, M.D. National Human Genome Research Institute (NHGRI)
PRS Account National Institutes of Health Clinical Center (CC)
Verification Date January 26, 2023