NCT02450851 Clinical and Genetic Evaluation of Individuals With Undiagnosed Disorders Through the Undiagnosed Diseases Network
| NCT ID | NCT02450851 |
| Status | Recruiting |
| Phase | — |
| Sponsor | National Human Genome Research Institute (NHGRI) |
| Condition | Genetic Disease |
| Study Type | OBSERVATIONAL |
| Enrollment | 20,000 participants |
| Start Date | 2015-09-16 |
| Primary Completion | 2028-12-31 |
Eligibility & Interventions
Eligibility Fast-Check
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What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 20,000 participants in total. It began in 2015-09-16 with a primary completion date of 2028-12-31.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
Brief Summary
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....
Eligibility Criteria
* 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.
Contact & Investigator
William A Gahl, M.D.
PRINCIPAL INVESTIGATOR
National Human Genome Research Institute (NHGRI)
Frequently Asked Questions
Who can join the NCT02450851 clinical trial?
This trial is open to participants of all sexes, aged 1 Month or older, up to 100 Years, studying Genetic Disease. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT02450851 currently recruiting?
Yes, NCT02450851 is actively recruiting participants. Contact the research team at udn@hms.harvard.edu for enrollment information.
Where is the NCT02450851 trial being conducted?
This trial is being conducted at Birmingham, United States, Huntsville, United States, Los Angeles, United States, Orange, United States and 11 additional locations.
Who is sponsoring the NCT02450851 clinical trial?
NCT02450851 is sponsored by National Human Genome Research Institute (NHGRI). The principal investigator is William A Gahl, M.D. at National Human Genome Research Institute (NHGRI). The trial plans to enroll 20,000 participants.