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 : May 3, 2024
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Condition or disease |
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Genetic Disease |
Study Type : | Observational |
Estimated Enrollment : | 20000 participants |
Observational Model: | Case-Only |
Time Perspective: | Prospective |
Official Title: | Clinical and Genetic Evaluation of Patients With Undiagnosed Disorders Through the Undiagnosed Diseases Network |
Actual Study Start Date : | September 16, 2015 |
Estimated Primary Completion Date : | December 31, 2028 |
Estimated Study Completion Date : | December 31, 2028 |
Group/Cohort |
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Undiagnosed disorders
Patients with rare, undiagnosed disorders.
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- 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: 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.
- 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: 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.
- 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: 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.
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.
Ages Eligible for Study: | 1 Month to 100 Years (Child, Adult, Older Adult) |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | Yes |
Sampling Method: | Non-Probability Sample |
- INCLUSION CRITERIA:
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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.
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02450851
Contact: Paul Mazur | (844) 746-4836 | udn@hms.harvard.edu |
Principal Investigator: | William A Gahl, M.D. | National Human Genome Research Institute (NHGRI) |
Publications:
Responsible Party: | National Human Genome Research Institute (NHGRI) |
ClinicalTrials.gov Identifier: | NCT02450851 |
Other Study ID Numbers: |
150130 15-HG-0130 |
First Posted: | May 21, 2015 Key Record Dates |
Last Update Posted: | May 3, 2024 |
Last Verified: | April 22, 2024 |
Studies a U.S. FDA-regulated Drug Product: | No |
Studies a U.S. FDA-regulated Device Product: | No |
Rare Diseases Undiagnosed Diseases Natural History |
Genetic Diseases, Inborn Undiagnosed Diseases Disease Attributes Pathologic Processes |