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NCT04586075 · ClinicalTrials.gov record · last posted 2026-05-29

UW Undiagnosed Genetic Diseases Program

StatusRecruiting
PhaseNot specified
Started2021-07-16
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from the ClinicalTrials.gov record
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.

Amendment record 12 amendments on the ClinicalTrials.gov record

This ClinicalTrials.gov record has been amended 12 times since 2020-10-06; most recent amendment 2026-05-28. DataLookout shows field-level changes from the day a trial enters its daily monitoring; earlier amendments are counted here from the ClinicalTrials.gov version history. See every version on ClinicalTrials.gov ↗

2021-07-23
Status change Not Yet Recruiting→Recruitingv5
Trial Details
NCT Number NCT04586075
Lead Sponsor University of Wisconsin, Madison
Collaborators: University of Wisconsin Center for Human Genomics and Precision Medicine
Conditions Rare Diseases, Genetic Disease, Undiagnosed Disease
Enrollment 1,000 participants
Start Date 2021-07-16
Primary Completion 2030-10 (estimated)
Study Completion 2030-10 (estimated)
Updated on ClinicalTrials.gov 2026-05-29