Genetic Disease Clinical Trial
Official title:
UW Undiagnosed Genetic Diseases Program
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 over approximately 5 years time.
Status | Recruiting |
Enrollment | 500 |
Est. completion date | October 2025 |
Est. primary completion date | October 2025 |
Accepts healthy volunteers | No |
Gender | All |
Age group | N/A to 100 Years |
Eligibility | 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. |
Country | Name | City | State |
---|---|---|---|
United States | University of Wisconsin School of Medicine and Public Health | Madison | Wisconsin |
Lead Sponsor | Collaborator |
---|---|
University of Wisconsin, Madison | University of Wisconsin Center for Human Genomics and Precision Medicine |
United States,
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Primary | Number of New Disease Genes Discovered | up to 5 years | ||
Primary | Number of Expanded Disease Gene Phenotypes | up to 5 years | ||
Secondary | Number of Participants who are Diagnosed in 5 years | A secondary objective of this study is to diagnose individuals with genetic disorders who have not been diagnosed using conventional clinical means and provide them with actionable knowledge to manage their disorders. This will be measured as the rate of diagnosis over the entire study. | up to 5 years | |
Secondary | Number of Participants Diagnosed per Analytical Technique | A secondary aim of this study is to develop and trial novel diagnostic technologies and analytics. The diagnosis rate per novel analytic technique will be assessed. | up to 5 years | |
Secondary | Diagnostic Rate by Disease Presentation | To improve understanding of the pathobiology of genetic disorders and the relationships between genomic variation and disease, number of participants diagnosed by disease presentation will be reported. | up to 5 years |
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