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.
Genetic Disease
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.
| Study Type : | OBSERVATIONAL |
| Estimated Enrollment : | 20000 participants |
| Official Title : | Clinical and Genetic Evaluation of Patients With Undiagnosed Disorders Through the Undiagnosed Diseases Network |
| Actual Study Start Date : | 2015-09-16 |
| Estimated Primary Completion Date : | 2028-12-31 |
| Estimated Study Completion Date : | 2028-12-31 |
Information not available for Arms and Intervention/treatment
| Ages Eligible for Study: | 1 Month to 100 Years |
| Sexes Eligible for Study: | ALL |
| Accepts Healthy Volunteers: | 1 |
Want to participate in this study, select a site at your convenience, send yourself email to get contact details and prescreening steps.
RECRUITING
University of Alabama at Birmingham
Birmingham, alabama, United States, 35233
COMPLETED
HudsonAlpha Institute for Biotechnology, Inc.
Huntsville, alabama, United States, 35806
RECRUITING
University of California, Los Angeles
Los Angeles, California, United States, 90095
RECRUITING
University of California, Irvine Medical Center
Orange, California, United States, 92668
COMPLETED
Lucile Salter Packard Children's Hospital at Stanford
Stanford, California, United States, 94020
RECRUITING
Stanford University
Stanford, California, United States, 94305-5584
RECRUITING
Leland Stanford Junior University
Stanford, California, United States, 94305
RECRUITING
Stanford Hospital and Clinics
Stanford, California, United States, 94305
RECRUITING
Childrens National Medical Center
Washington D.C., District of Columbia, United States, 20010
RECRUITING
University of Miami Miller School of Medicine
Miami, florida, United States, 33136
NOT YET RECRUITING
Lurie Children s Hospital
Chicago, Illinois, United States, 60611
RECRUITING
Indiana University
Indianapolis, Indiana, United States, 46202-5262
RECRUITING
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892
RECRUITING
Massachusetts General Hospital
Boston, Massachusetts, United States, 02114
RECRUITING
Boston Children s Hospital
Boston, Massachusetts, United States, 02115
RECRUITING
Brigham and Women's Hospital
Boston, Massachusetts, United States, 02115
COMPLETED
Harvard T.H. Chan School of Public Health
Boston, Massachusetts, United States, 02115
NOT YET RECRUITING
Harvard U Faculty of Medicine
Boston, Massachusetts, United States, 02115
RECRUITING
Mayo Clinic
Rochester, Minnesota, United States, 55905
RECRUITING
Washington University in St. Louis
St Louis, Missouri, United States, 63110
ACTIVE NOT RECRUITING
New York Genome Center
New York, New York, United States, 10013
RECRUITING
Duke University Health System
Durham, North Carolina, United States, 27710
NOT YET RECRUITING
University of Oregon
Eugene, Oregon, United States, 97403
COMPLETED
Oregon Health Sciences University
Portland, Oregon, United States, 97201-3098
RECRUITING
University of Pennsylvania
Philadelphia, Pennsylvania, United States, 19104-6056
RECRUITING
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, United States, 19104
RECRUITING
Vanderbilt University Medical Center
Nashville, Tennessee, United States, 37232
RECRUITING
Baylor College of Medicine
Houston, Texas, United States, 77030
RECRUITING
University of Utah
Salt Lake City, Utah, United States, 84112
COMPLETED
Pacific Northwest National Laboratory
Richland, Washington, United States, 99354
RECRUITING
Seattle Children's Hospital
Seattle, Washington, United States, 98101
RECRUITING
University of Washington
Seattle, Washington, United States, 98195
RECRUITING
Medical College of Wisconsin
Milwaukee, Wisconsin, United States, 53226