NCT04703179
Enrolling by Invitation
N/A
Rare and Undiagnosed Disease Research Biorepository
Overview
- Phase
- N/A
- Intervention
- Not specified
- Conditions
- Undiagnosed Disease
- Sponsor
- Mayo Clinic
- Enrollment
- 5000
- Locations
- 3
- Primary Endpoint
- Enrollment of Study Participants
- Status
- Enrolling by Invitation
- Last Updated
- 4 months ago
Overview
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.
Investigators
Filippo Pinto e Vairo
Principal Investigator
Mayo Clinic
Eligibility Criteria
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
Exclusion Criteria
- •Individuals who have situations that would limit compliance with the study requirements
- •Institutionalized (i.e. Federal Medical Prison)
Outcomes
Primary Outcomes
Enrollment of Study Participants
Time Frame: 5 years
5,000 participants to be accrued
Secondary Outcomes
- Discovery of Disease Mechanisms and Therapeutic Approaches(5 years)
- Body-of-Knowledge(5 years)
- Diagnostic Yield(5 years)
Study Sites (3)
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