Rare and Undiagnosed Disease Research Biorepository

• Conditions: Rare Diseases; Undiagnosed Disease

• Registration Number: NCT04703179
• Lead Sponsor: Mayo Clinic

Brief 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.

Detailed Description

Not available

Study Timeline

• Study Start: 2020-11-20
• Study First Submitted: 2021-01-07
• Study First Submitted QC: 2021-01-08
• Study First Posted: 2021-01-11
• Status Verified: 2024-03
• Last Update Submitted: 2024-03-11
• Last Update Posted: 2024-03-12
• Primary Completion: 2025-11
• Study Completion: 2025-11

Recruitment & Eligibility

• Status: ENROLLING_BY_INVITATION
• Sex: All
• Target Recruitment: 5000

Inclusion Criteria

• Has Mayo Clinic or other medical health system ID, or another unique identifier
• Able to provide informed consent

Must meet one of the following:

• Individual must have evidence of a rare disease or a suspected genetic disorder as determined by a provider or genetic counselor
• Biological family member of an enrolled individual

Read More

Exclusion Criteria

• Individuals who have situations that would limit compliance with the study requirements
• Institutionalized (i.e. Federal Medical Prison)

Read More

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Enrollment of Study Participants	5 years	5,000 participants to be accrued

Secondary Outcome Measures

Name	Time	Method
Discovery of Disease Mechanisms and Therapeutic Approaches	5 years	To facilitate research projects using the Rare and Undiagnosed Disease Biobank to identify underlying disease mechanisms and potential therapeutic approaches.
Body-of-Knowledge	5 years	To prospectively follow the cohort of Rare and Undiagnosed Disease Biorepository participants to ascertain new health outcomes via medical records and patient contact, update risk factor data, and collect additional biologic specimens.
Diagnostic Yield	5 years	To change the rate of diagnosis and level of care for patients with rare and undiagnosed diseases through collaborations with clinical investigators and researchers at Mayo Clinic and globally.

Trial Locations

Locations (3)

Mayo Clinic in Rochester; 🇺🇸 Rochester, Minnesota, United States

Mayo Clinic in Arizona; 🇺🇸 Scottsdale, Arizona, United States

Mayo Clinic in Florida; 🇺🇸 Jacksonville, Florida, United States