Program for discovering undiagnosed genetic diseases
Official title: UW Undiagnosed Genetic Diseases Program
Run by University of Wisconsin, Madison · NCT04586075 · Data updated 2026-11-12
This study is trying to find new genetic causes for rare diseases by testing the DNA of 500 people who haven't been diagnosed yet.
Quick facts
| Study type | Observational |
|---|---|
| Ages | Any age to 100 Years |
| Sex | All |
| Enrollment | 1000 (estimated) |
| Sponsor | University of Wisconsin, Madison Academic / other |
| Locations | 1 site (Madison, Wisconsin) |
| Status | Recruiting |
| Started | July 16, 2021 |
| Main results expected | October 2030 |
| Study ends | October 2030 |
| Registry record updated | May 29, 2026 |
| Trial ID | NCT04586075 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates are individuals with undiagnosed conditions despite thorough evaluations and who have objective findings suggestive of a genetic cause.
✕Probably not a fit
Patients who already have a diagnosis that explains their symptoms may not benefit from this program.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This program aims to identify new disease genes for rare Mendelian disorders and diagnose individuals with previously undiagnosed genetic conditions. By utilizing genome sequencing and advanced 'omics technologies, the study will assess patients whose clinical evaluations have not provided a diagnosis. Over a period of approximately five years, 500 participants with suspected genetic disorders will be recruited to contribute to this research. The program also seeks to enhance understanding of genetic disorders and develop innovative diagnostic technologies.
Why it matters
Potential benefit: If successful, this program could provide accurate diagnoses and actionable insights for patients with rare genetic disorders, improving their management and quality of life.
How similar studies have gone: Other studies utilizing genome sequencing for undiagnosed diseases have shown promise, indicating that this approach is both relevant and potentially impactful.
Who can join: the full rules
Show full inclusion / exclusion criteria
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.
Where it's running
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University of Wisconsin School of Medicine and Public Health
Madison, Wisconsin, United States Recruiting
Study contacts
- Principal investigator: Bryn Webb, MD — University of Wisconsin, Madison
- Study coordinator: Research Coordinator
- Phone: (608) 263-5877
Similar studies
Other studies for the same condition or treatment. Recruiting studies are listed first.
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Genomic profiling for patients with rare and genetic diseases
This study is trying to see if using advanced genetic testing can help doctors better understand and treat rare diseases for over 2 million patients in Italy.
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Identifying genetic causes of rare diseases
This study is trying to find out if certain genetic changes are linked to rare diseases by looking at samples from patients whose conditions are not well understood.
-
Long-term observation of ultra-rare inherited neurological diseases.
This study is looking to learn more about very rare inherited neurological diseases by tracking and collecting information from patients over a long time to see how these conditions change and affect their lives.
-
AI-assisted Rare-Disease Diagnosis
A multicenter randomized test to see if an AI diagnostic tool can help doctors make faster, more accurate rare-disease diagnoses for patients with unresolved symptoms.
-
Socio‑professional inclusion for young people (15–25) with childhood-onset rare genetic disabilities
This project will try to see what makes it hard for 15–25‑year‑olds with childhood-onset rare genetic conditions to access higher education, internships, or work.
-
Newborn whole-genome sequencing and genetic disease risk in pregnancy and early life
This project will collect small biological samples from pregnant families and newborns to try whole-genome sequencing and other multi-omics tests to find genetic disease risks.
How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.