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通过未确诊疾病网络对未确诊疾病患者进行临床和遗传评估

2026年11月2日 更新者：National Human Genome Research Institute (NHGRI)

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.

研究概览

地位

招聘中

条件

详细说明

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.

研究类型

观察性的

注册 (估计的)

20000

联系人和位置

本节提供了进行研究的人员的详细联系信息，以及有关进行该研究的地点的信息。

学习联系方式

学习地点

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

参与标准

研究人员寻找符合特定描述的人，称为资格标准。这些标准的一些例子是一个人的一般健康状况或先前的治疗。

资格标准

适合学习的年龄

1个月 至 100年 (孩子、成人、年长者)

接受健康志愿者

是的

有资格学习的性别

全部

取样方法

非概率样本

研究人群

Individuals with undiagnosed conditions

描述

  • 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.

学习计划

本节提供研究计划的详细信息，包括研究的设计方式和研究的衡量标准。

研究是如何设计的？

设计细节

  • 观测模型：CASE_ONLY
  • 时间观点：PROSPECTIVE

队列和干预

团体/队列
Undiagnosed disorders

Patients with rare, undiagnosed disorders.

研究衡量的是什么？

主要结果指标

结果测量
措施说明
大体时间
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...
大体时间：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
大体时间：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
大体时间：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

合作者和调查者

在这里您可以找到参与这项研究的人员和组织。

赞助

National Human Genome Research Institute (NHGRI)

调查人员

  • 首席研究员：William A Gahl, M.D.、National Human Genome Research Institute (NHGRI)

出版物和有用的链接

负责输入研究信息的人员自愿提供这些出版物。这些可能与研究有关。

一般刊物

有用的网址

研究记录日期

这些日期跟踪向 ClinicalTrials.gov 提交研究记录和摘要结果的进度。研究记录和报告的结果由国家医学图书馆 (NLM) 审查，以确保它们在发布到公共网站之前符合特定的质量控制标准。

研究主要日期

学习开始 (实际的)

2015年9月16日

初级完成 (估计的)

2099年9月16日

研究完成 (估计的)

2099年12月31日

研究注册日期

首次提交

2015年5月19日

首先提交符合 QC 标准的

2015年5月19日

首次发布 (估计的)

2015年5月21日

研究记录更新

最后更新发布 (实际的)

2026年11月3日

上次提交的符合 QC 标准的更新

2026年11月2日

最后验证

2026年10月28日

更多信息

与本研究相关的术语

关键字

其他相关的 MeSH 术语

其他研究编号

  • 150130
  • 15-HG-0130

药物和器械信息、研究文件

研究美国 FDA 监管的药品

不

研究美国 FDA 监管的设备产品

不

此信息直接从 clinicaltrials.gov 网站检索，没有任何更改。如果您有任何更改、删除或更新研究详细信息的请求，请联系 register@clinicaltrials.gov. clinicaltrials.gov 上实施更改，我们的网站上也会自动更新.

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