UW Undiagnosed Genetic Diseases Program

Part of paid clinical trials in Madison, Wisconsin.

Sponsor
University of Wisconsin, Madison
Study ID
NCT04586075
Status
Recruiting
Apply to this trial

Conditions

  • Genetic Disease
  • Rare Diseases
  • Undiagnosed Disease

Eligibility Criteria

Sex
ALL
Age
N/A - 100 Years
Healthy Volunteers
Not accepted

Interventions

  • Trio Whole Genome Sequencing and Participant-Specific Research — DIAGNOSTIC_TEST
    The initial evaluation begins with short-read genome sequencing of DNA extracted from blood of affected individual(s) and participating family members (The most common approach will be trio whole genome sequencing, which involves the affected child + their parents). Additional evaluation may include: functional assessments, animal modeling, reverse phenotyping (may require an interim visit), epigenetic profiling, or clinical database matching through selective sharing of coded patient data with external collaborators (e.g., via Matchmaker Exchange and Phenome Central), long read genome sequencing, de novo genome assembly, RNA sequencing, and novel bioinformatics analyses

Study Details

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.

Key Dates

Start date
Jul 16, 2021
Status verified
May 2026
Primary completion
Oct 31, 2030
Completion
Oct 31, 2030

Study Design

Enrollment
1,000 participants (estimated)

Arms

  • Arm: Undiagnosed Disease Group
    Blood or other relevant biological samples obtained from consenting research subjects will be banked and extracted for DNA and RNA.

Primary Outcome Measure

Number of New Disease Genes Discovered [ Time Frame: up to 5 years ]

Central Contacts

  • Research Coordinator
    (608) 263-5877

Locations (1)

FacilityCityStateZIPSite coordinators
University of Wisconsin School of Medicine and Public HealthMadisonWisconsin53705
Study Coordinator
[email protected]
(608) 263-5877
Bryn Webb, MD (PRINCIPAL_INVESTIGATOR)

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By research site
University of Wisconsin School of Medicine and Public Health· Madison, WI

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