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
This trial does not accept healthy volunteersQualifiers
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 population
Males and females, ages 0-100 years, of all races and ethnicities, with an undiagnosed disease despite thorough evaluation by healthcare providers and having at least one objective finding. Subjects can come from all states of the US, as well as from other countries.
Trial design
Design model
Cohort
Time perspective
Prospective
Treatments tested in this trial
Trio Whole Genome Sequencing and Participant-Specific Research
Diagnostic testThe 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
Treatment groups
1,000 Participants
are divided into 1 treatment groupGroup A: Undiagnosed Disease Group1 intervention
Trial outcomes
Primary outcomes
1
Number of New Disease Genes Discovered
Time frame
up to 5 years2
Number of Expanded Disease Gene Phenotypes
Time frame
up to 5 yearsSecondary outcomes
1
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.
Time frame
up to 5 years2
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.
Time frame
up to 5 years3
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.
Time frame
up to 5 yearsSponsors and contacts
Click on the lead sponsor to view all of their trials.
University of Wisconsin, Madison
Lead sponsor
University of Wisconsin Center for Human Genomics and Precision Medicine
Collaborator
Source ClinicalTrials.gov