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UW Undiagnosed Genetic Diseases Program

NCT04586075 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 500

Last updated 2025-06-04

No results posted yet for this study

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.

Conditions

Interventions

DIAGNOSTIC_TEST

Trio Whole Genome Sequencing and Participant-Specific Research

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

Sponsors & Collaborators

  • University of Wisconsin Center for Human Genomics and Precision Medicine

    collaborator UNKNOWN

  • University of Wisconsin, Madison

    lead OTHER

Principal Investigators

  • Bryn Webb, MD · University of Wisconsin, Madison

Eligibility

Max Age
100 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2021-07-16
Primary Completion
2030-10-31
Completion
2030-10-31

Countries

  • United States

Study Locations

More Related Trials

Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04586075 on ClinicalTrials.gov