NCT04586075 UW Undiagnosed Genetic Diseases Program
| NCT ID | NCT04586075 |
| Status | Recruiting |
| Phase | — |
| Sponsor | University of Wisconsin, Madison |
| Condition | Rare Diseases |
| Study Type | OBSERVATIONAL |
| Enrollment | 1,000 participants |
| Start Date | 2021-07-16 |
| Primary Completion | 2030-10 |
Eligibility & Interventions
Eligibility Fast-Check
Enter your details for a quick preliminary check. This does not replace medical advice.
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 1,000 participants in total. It began in 2021-07-16 with a primary completion date of 2030-10.
⚠ 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
The primary purpose of this study is to discover new disease genes for rare Mendelian disorders and its secondary purpose include diagnosing people with rare genetic disorders that have not been previously diagnosed through conventional clinical means, learning more about the pathobiology of genetic disorders, and developing novel diagnostic technologies and analytics. 500 participants with undiagnosed and suspected genetic disorders will be recruited.
Eligibility Criteria
Inclusion Criteria: * The applicant has a condition that remains undiagnosed despite thorough evaluation by healthcare providers (including clinical genetic testing). * The applicant has at least one objective finding that is likely to have an identifiable genetic etiology. * The applicant likely has a currently undescribed/new genetic condition or a known genetic condition associated with a novel gene. * The applicant/legal guardian agrees to the collection, storage and recurrent sharing of coded information and biomaterials for research and diagnostic purposes both within and outside of the University of Wisconsin-Undiagnosed Diseases Program (UW-UDP) * The applicant/legal guardian agrees to receive secondary findings from genetic testing. * The applicant/legal guardian has sufficient proficiency in English to understand the consent. Exclusion Criteria: * The applicant already has a diagnosis that explains the objective findings. * A specific diagnosis is suspected and a standard clinical workup performed by the referring/primary care provider would be appropriate. * The UW-UDP is unlikely to improve on the comprehensive workup the applicant has already received. * The applicant's symptoms are likely multifactorial or due to a non-genetic cause.
Contact & Investigator
Research Coordinator
📞 (608) 263-5877
Bryn Webb, MD
PRINCIPAL INVESTIGATOR
University of Wisconsin, Madison
Frequently Asked Questions
Who can join the NCT04586075 clinical trial?
This trial is open to participants of all sexes, up to 100 Years, studying Rare Diseases. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT04586075 currently recruiting?
Yes, NCT04586075 is actively recruiting participants. Visit ClinicalTrials.gov or contact University of Wisconsin, Madison to inquire about joining.
Where is the NCT04586075 trial being conducted?
This trial is being conducted at Madison, United States.
Who is sponsoring the NCT04586075 clinical trial?
NCT04586075 is sponsored by University of Wisconsin, Madison. The principal investigator is Bryn Webb, MD at University of Wisconsin, Madison. The trial plans to enroll 1,000 participants.
Related Trials
Related Intelligence Guides
In-depth guides covering this condition's trials, eligibility, and what to expect.