Program for discovering undiagnosed genetic diseases
UW Undiagnosed Genetic Diseases Program
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 |
|---|---|
| Enrollment | 500 (estimated) |
| Ages | N/A to 100 Years |
| Sex | All |
| Sponsor | University of Wisconsin, Madison Academic / other |
| Locations | 1 site (Madison, Wisconsin) |
| Trial ID | NCT04586075 on ClinicalTrials.gov |
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.
Who should consider this trial
Good fit: Ideal candidates are individuals with undiagnosed conditions despite thorough evaluations and who have objective findings suggestive of a genetic cause.
Not a fit: Patients who already have a diagnosis that explains their symptoms may not benefit from this program.
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 performed: Other studies utilizing genome sequencing for undiagnosed diseases have shown promise, indicating that this approach is both relevant and potentially impactful.
Eligibility criteria
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 this trial is running
Madison, Wisconsin
- 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: Jadin Heilmann
- Email: research@CHGPM.wisc.edu
- Phone: (608) 263-5877
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.