What this study is
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.
What's being tested
- Trio Whole Genome Sequencing and Participant-Specific Research
Intervention · 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
- Sponsor
- University of Wisconsin, Madison
- Conditions
- Rare Diseases · Genetic Disease · Undiagnosed Disease
- Enrolling
- 1,000 people
- Starts
- 2021-07-16
- Est. completion
- 2030-10
- Record
- View on ClinicalTrials.gov ↗
Who can join
Age Up to 100 YearsSex ALLHealthy volunteers Not acceptedYou may qualify if
- 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.
You can't join if
- 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.
Sign in and we'll check these against your records.Full criteria on ClinicalTrials.gov ↗
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Study locations (1)
1 openUniversity of Wisconsin School of Medicine and Public Health
Madison, Wisconsin, United States
- Study Coordinator · Contact(608) 263-5877research@CHGPM.wisc.edu
- Bryn Webb, MD · Principal investigator
Recruiting
Study team
Sponsor
University of Wisconsin, Madison
Study ID 2020-0700
Principal investigator
Bryn Webb, MD
University of Wisconsin, Madison
Frequently asked questions
The sponsor hasn't published answers to common questions for this trial.