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미진단 질병 네트워크를 통한 미진단 장애 개인의 임상 및 유전적 평가

2026년 11월 2일 업데이트: National Human Genome Research Institute (NHGRI)

Undiagnosed Diseases Network를 통한 미진단 장애 환자의 임상 및 유전적 평가

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.

연구 개요

상태

모병

정황

상세 설명

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.1-3 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, 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.

연구 유형

관찰

등록 (추정된)

20000

연락처 및 위치

이 섹션에서는 연구를 수행하는 사람들의 연락처 정보와 이 연구가 수행되는 장소에 대한 정보를 제공합니다.

연구 연락처

연구 장소

  • 미국
    • Alabama
      • Birmingham, Alabama, 미국, 35233
        • 모병
        • University of Alabama at Birmingham
        • 연락하다:
      • Huntsville, Alabama, 미국, 35806
        • 완전한
        • HudsonAlpha Institute for Biotechnology, Inc.
    • California
      • Los Angeles, California, 미국, 90095
        • 모병
        • University of California, Los Angeles
        • 연락하다:
      • Orange, California, 미국, 92668
        • 모병
        • University of California, Irvine Medical Center
        • 연락하다:
      • Stanford, California, 미국, 94305
        • 모병
        • Leland Stanford Junior University
        • 연락하다:
      • Stanford, California, 미국, 94305
        • 모병
        • Stanford Hospital and Clinics
        • 연락하다:
      • Stanford, California, 미국, 94020
        • 완전한
        • Lucile Salter Packard Children's Hospital at Stanford
      • Stanford, California, 미국, 94305-5584
        • 모병
        • Stanford University
        • 연락하다:
    • District of Columbia
      • Washington D.C., District of Columbia, 미국, 20010
    • Florida
      • Miami, Florida, 미국, 33136
        • 모병
        • University of Miami Miller School of Medicine
        • 연락하다:
    • Illinois
      • Chicago, Illinois, 미국, 60611
        • 아직 모집하지 않음
        • Lurie Children s Hospital
        • 연락하다:
    • Indiana
      • Indianapolis, Indiana, 미국, 46202-5262
        • 모병
        • Indiana University
        • 연락하다:
          • Stephane Ware, M.D.
          • 전화번호: 317-274-8938
          • 이메일: stware@iu.edu
    • Maryland
      • Bethesda, Maryland, 미국, 20892
        • 모병
        • National Institutes of Health Clinical Center
        • 연락하다:
          • For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)
          • 전화번호: TTY dial 711 800-411-1222
          • 이메일: ccopr@nih.gov
    • Massachusetts
      • Boston, Massachusetts, 미국, 02115
        • 모병
        • Brigham and Women's Hospital
        • 연락하다:
      • Boston, Massachusetts, 미국, 02114
        • 모병
        • Massachusetts General Hospital
        • 연락하다:
      • Boston, Massachusetts, 미국, 02115
      • Boston, Massachusetts, 미국, 02115
        • 아직 모집하지 않음
        • Harvard U Faculty of Medicine
        • 연락하다:
      • Boston, Massachusetts, 미국, 02115
        • 완전한
        • Harvard T.H. Chan School of Public Health
    • Minnesota
      • Rochester, Minnesota, 미국, 55905
    • Missouri
      • St Louis, Missouri, 미국, 63110
        • 모병
        • Washington University in St. Louis
        • 연락하다:
    • New York
      • New York, New York, 미국, 10013
        • 모집하지 않고 적극적으로
        • New York Genome Center
    • North Carolina
      • Durham, North Carolina, 미국, 27710
        • 모병
        • Duke University Health System
        • 연락하다:
    • Oregon
      • Eugene, Oregon, 미국, 97403
        • 아직 모집하지 않음
        • University of Oregon
        • 연락하다:
      • Portland, Oregon, 미국, 97201-3098
        • 완전한
        • Oregon Health Sciences University
    • Pennsylvania
      • Philadelphia, Pennsylvania, 미국, 19104
        • 모병
        • Children's Hospital of Philadelphia
        • 연락하다:
      • Philadelphia, Pennsylvania, 미국, 19104-6056
    • Tennessee
      • Nashville, Tennessee, 미국, 37232
        • 모병
        • Vanderbilt University Medical Center
        • 연락하다:
    • Texas
      • Houston, Texas, 미국, 77030
        • 모병
        • Baylor College of Medicine
        • 연락하다:
          • Brendan Lee, M.D.
          • 전화번호: 713-798-8835
          • 이메일: blee@bcm.edu
    • Utah
      • Salt Lake City, Utah, 미국, 84112
    • Washington
      • Richland, Washington, 미국, 99354
        • 완전한
        • Pacific Northwest National Laboratory
      • Seattle, Washington, 미국, 98195
        • 모병
        • University of Washington
        • 연락하다:
          • Gail Jarvik, M.D.
          • 전화번호: Not Listed
          • 이메일: pair@uw.edu
      • Seattle, Washington, 미국, 98101
    • Wisconsin
      • Milwaukee, Wisconsin, 미국, 53226
        • 모병
        • Medical College of Wisconsin

참여기준

연구원은 적격성 기준이라는 특정 설명에 맞는 사람을 찾습니다. 이러한 기준의 몇 가지 예는 개인의 일반적인 건강 상태 또는 이전 치료입니다.

자격 기준

공부할 수 있는 나이

1개월 (어린이, 성인, 고령자)

건강한 자원 봉사자를 받아들입니다

예

연구 대상 성별

모두

샘플링 방법

비확률 샘플

연구 인구

Individuals with undiagnosed conditions

설명

  • 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.

공부 계획

이 섹션에서는 연구 설계 방법과 연구가 측정하는 내용을 포함하여 연구 계획에 대한 세부 정보를 제공합니다.

연구는 어떻게 설계됩니까?

디자인 세부사항

  • 관찰 모델: CASE_ONLY
  • 시간 관점: PROSPECTIVE

코호트 및 개입

그룹/코호트
Undiagnosed disorders

Patients with rare, undiagnosed disorders.

연구는 무엇을 측정합니까?

주요 결과 측정

결과 측정
측정값 설명
기간
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...
기간: 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.
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
기간: 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.
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
기간: 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.
Day 1-5 and followup

공동 작업자 및 조사자

여기에서 이 연구와 관련된 사람과 조직을 찾을 수 있습니다.

스폰서

National Human Genome Research Institute (NHGRI)

수사관

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

간행물 및 유용한 링크

연구에 대한 정보 입력을 담당하는 사람이 자발적으로 이러한 간행물을 제공합니다. 이것은 연구와 관련된 모든 것에 관한 것일 수 있습니다.

일반 간행물

유용한 링크

연구 기록 날짜

이 날짜는 ClinicalTrials.gov에 대한 연구 기록 및 요약 결과 제출의 진행 상황을 추적합니다. 연구 기록 및 보고된 결과는 공개 웹사이트에 게시되기 전에 특정 품질 관리 기준을 충족하는지 확인하기 위해 국립 의학 도서관(NLM)에서 검토합니다.

연구 주요 날짜

연구 시작 (실제)

2015년 9월 16일

기본 완료 (추정된)

2099년 9월 16일

연구 완료 (추정된)

2099년 12월 31일

연구 등록 날짜

최초 제출

2015년 5월 19일

QC 기준을 충족하는 최초 제출

2015년 5월 19일

처음 게시됨 (추정된)

2015년 5월 21일

연구 기록 업데이트

마지막 업데이트 게시됨 (실제)

2026년 11월 3일

QC 기준을 충족하는 마지막 업데이트 제출

2026년 11월 2일

마지막으로 확인됨

2026년 10월 28일

추가 정보

이 연구와 관련된 용어

키워드

추가 관련 MeSH 약관

기타 연구 ID 번호

  • 150130
  • 15-HG-0130

약물 및 장치 정보, 연구 문서

미국 FDA 규제 의약품 연구

아니

미국 FDA 규제 기기 제품 연구

아니

이 정보는 변경 없이 clinicaltrials.gov 웹사이트에서 직접 가져온 것입니다. 귀하의 연구 세부 정보를 변경, 제거 또는 업데이트하도록 요청하는 경우 register@clinicaltrials.gov. 문의하십시오. 변경 사항이 clinicaltrials.gov에 구현되는 즉시 저희 웹사이트에도 자동으로 업데이트됩니다. .

구독하다