An observational study in Undiagnosed Diseases, Genetic Diseases and Rare Diseases, sponsored by Mayo Clinic. Enrolling by invitation at 1 site in United States. Per ClinicalTrials.gov, last updated 2026-10-01.
Sponsored by Mayo Clinic · Observational
The purpose of this study is to create a Mayo Clinic biospecimen and data repository to support the evaluation of patients with rare and undiagnosed diseases through a structured, multidisciplinary diagnostic program.
403 studies on the registry are indexed under Genetic Diseases, Inborn; 145 are open to participants now.
This study's planned enrollment of 50 is below the median of 192 across 195 observational studies indexed under Genetic Diseases, Inborn.
Browse Genetic Diseases, Inborn studies →Mayo Clinic is the lead sponsor of 3,218 studies on the registry; 670 are open to participants now.
Of its 445 completed or terminated interventional studies of FDA-regulated products, 313 (70%) have results posted.
Counted across the registry records on this site, refreshed daily.
Patients receiving or having received care at Mayo Clinic who have rare or undiagnosed conditions and who are nominated by a Mayo Clinic clinician sponsor and selected by the study team.
Exclusion Criteria:
Mayo Clinic patients receiving or having received care who have rare or undiagnosed conditions, prior non-diagnostic standard genetic testing, and nomination by a Mayo Clinic clinician sponsor followed by study team selection.
Feasibility of establishing a biospecimen and data repository
Number of enrolled participants who complete all planned repository workflow steps, including eligibility confirmation, informed consent, biospecimen collection, clinical data abstraction, research data generation, and multidisciplinary Hackathon case review.
Time frame: 1 year
Plan to share: No
No publications or documents are linked to this record.
From the registry record's own update history. This site started tracking changes on Sep 25, 2026; for anything earlier, see the record history on ClinicalTrials.gov ↗
Eligibility is decided by the study team. Share this record with your doctor or contact the team directly.
No contact was published for this record. The registry link below has the sponsor’s details.
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Undiagnosed Diseases
Mayo Clinic