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 : September 12, 2019
- 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.
- To improve diagnosis and care for people with undiagnosed diseases.
- People with undiagnosed diseases, and their relatives.
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
- 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.
- 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|
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. 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 2013-2022. 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.
|Study Type :||Observational|
|Estimated Enrollment :||16000 participants|
|Official Title:||Clinical and Genetic Evaluation of Patients With Undiagnosed Disorders Through the Undiagnosed Diseases Network|
|Actual Study Start Date :||July 17, 2015|
|Estimated Primary Completion Date :||December 31, 2028|
|Estimated Study Completion Date :||December 31, 2028|
Patients with rare, undiagnosed disorders
- 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 ofenvironmental 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 ofenvironmental 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.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02450851
|Contact: Paul Mazur||(844) firstname.lastname@example.org|
|United States, Alabama|
|University of Alabama||Recruiting|
|Birmingham, Alabama, United States, 35233|
|Contact: Matthew Might Not Listed email@example.com|
|United States, California|
|University of California, Los Angeles||Recruiting|
|Los Angeles, California, United States, 90095|
|Contact: Stanley Nelson, M.D. Not Listed firstname.lastname@example.org|
|Stanford, California, United States, 94305-5584|
|Contact: Euan Ashley, M.D. Not Listed email@example.com|
|Stanford Medical Center||Recruiting|
|Stanford, California, United States, 94305|
|Contact: Jonathan Bernstein, M.D. Not Listed firstname.lastname@example.org|
|Lucille Salter Packer Children's Hospital||Recruiting|
|Stanford, California, United States|
|Contact: Paul Fisher, M.D. Not Listed email@example.com|
|United States, Florida|
|University of Miami Miller School of Medicine||Recruiting|
|Miami, Florida, United States, 33136|
|Contact: Mustafa Tekin, MD 305-243-2381 firstname.lastname@example.org|
|Contact: Stephan Zuchner, MD, PhD (305) 243-2381 email@example.com|
|United States, Maryland|
|National Institutes of Health Clinical Center, 9000 Rockville Pike||Recruiting|
|Bethesda, Maryland, United States, 20892|
|Contact: Paul Mazur 844-746-4836 firstname.lastname@example.org|
|United States, Massachusetts|
|Massachusetts General Hospital||Recruiting|
|Boston, Massachusetts, United States, 02114|
|Contact: David Sweetser, M.D. Not Listed email@example.com|
|Brigham and Women's Hospital||Recruiting|
|Boston, Massachusetts, United States, 02115|
|Contact: Joseph Loscalzo Not Listed firstname.lastname@example.org|
|Harvard School of Public Health||Recruiting|
|Boston, Massachusetts, United States, 02115|
|Contact: Tianxi Cai Not Listed email@example.com|
|Boston Children s Hospital||Recruiting|
|Boston, Massachusetts, United States|
|Contact: Ingrid Holm Not Listed firstname.lastname@example.org|
|United States, Minnesota|
|Mayo Clinic, Rochester||Recruiting|
|Rochester, Minnesota, United States, 55905|
|Contact: Ian Lanza, PhD 507-255-8147 email@example.com|
|Contact: Devin Oglesbee, PhD (507) 284-1970 firstname.lastname@example.org|
|United States, Missouri|
|Washington University, St. Louis||Recruiting|
|Saint Louis, Missouri, United States, 63110|
|Contact: F. Sessions Cole, M.D. Not Listed email@example.com|
|United States, North Carolina|
|Duke Univ Health System||Recruiting|
|Durham, North Carolina, United States|
|Contact: Vandana Shashi, M.D. Not Listed firstname.lastname@example.org|
|United States, Pennsylvania|
|University of Pennsylvania||Recruiting|
|Philadelphia, Pennsylvania, United States, 19104-6056|
|Childrens Hospital, Philadelphia||Recruiting|
|Philadelphia, Pennsylvania, United States, 19104|
|Contact: Kathleen Sullivan, M.D. Not Listed email@example.com|
|United States, Tennessee|
|Nashville, Tennessee, United States, 37232|
|Contact: John Newman, M.D. Not Listed firstname.lastname@example.org|
|United States, Texas|
|Baylor College of Medicine||Recruiting|
|Houston, Texas, United States, 77030|
|Contact: Brendan Lee Not Listed email@example.com|
|United States, Utah|
|University of Utah||Recruiting|
|Salt Lake City, Utah, United States, 84112|
|Contact: Lorenzo Botto, M.D. 801-581-8943 firstname.lastname@example.org|
|United States, Washington|
|Pacific Northwest National Laboratory||Recruiting|
|Richland, Washington, United States, 99354|
|Contact: Thomas Metz, Ph.D. Not Listed email@example.com|
|University of Washington||Recruiting|
|Seattle, Washington, United States, 98195|
|Contact: Gail Jarvik, M.D. Not Listed firstname.lastname@example.org|
|Seattle Children's Hospital||Recruiting|
|Seattle, Washington, United States|
|Principal Investigator:||William A Gahl, M.D.||National Human Genome Research Institute (NHGRI)|