UW Undiagnosed Genetic Diseases Program
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
AgeUp to 100
SponsorUniversity of Wisconsin, Madison
About this trial
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.
Eligibility criteria
Qualifiers
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)
Disqualifiers
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.
Trial design
Treatments tested in this trial
- Trio Whole Genome Sequencing and Participant-Specific Research
Treatment groups
1,000 Participants
are divided into 1 treatment groupSponsors and collaborators
University of Wisconsin, Madison
Lead sponsor
University of Wisconsin Center for Human Genomics and Precision Medicine
Collaborator
Source ClinicalTrials.gov