NCT04703179

Rare and Undiagnosed Disease Research Biorepository

• Status: Enrolling By Invitation
• Phase: —
• Study type: Observational
• Enrollment: 5,000 (estimated)
• Sponsor: Mayo Clinic · Academic / Other
• Sex: All
• Age: —
• Healthy volunteers: Accepted

Summary

This research study is being done to find markers and identify causes of rare and undiagnosed diseases by analyzing patient's DNA (i.e., genetic material), RNA, plasma, urine, tissues, or other samples that could be informative of symptoms. Researchers are creating a biobank (library) of samples and information to learn more about treating rare and undiagnosed diseases.

Conditions

• Undiagnosed Disease
• Rare Diseases

Interventions

Type	Name	Description
OTHER	Genetic test evaluation	Patients with rare and undiagnosed disease and their family members may be evaluated on a case by case basis. The research study may perform multi-omics testing to provide a diagnosis or to provide biomarker discovery.

Timeline

• Start date: 2020-11-20
• Primary completion: 2026-11-01
• Completion: 2026-11-01
• First posted: 2021-01-11
• Last updated: 2025-12-15

Locations

3 sites across 1 country: United States