Rare and Undiagnosed Disease Research Biorepository

N/AEnrolling By InvitationNCT04703179

Mayo Clinic5,000 enrolled

Overview

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.

Study Type

OBSERVATIONAL

Enrollment

5,000

Conditions

Undiagnosed Disease Rare Diseases

Interventions

Genetic test evaluationOTHER

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.

Eligibility

Sex: ALLHealthy volunteers:

Medical Language ↔ Plain English

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)

Locations (3)

Mayo Clinic in Arizona

Scottsdale, Arizona, United States

Mayo Clinic in Florida

Jacksonville, Florida, United States

Mayo Clinic in Rochester

Rochester, Minnesota, United States

Outcomes

Primary Outcomes

Enrollment of Study Participants

5,000 participants to be accrued

Time frame: 5 years

Secondary Outcomes

Body-of-Knowledge

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.

Time frame: 5 years

Discovery of Disease Mechanisms and Therapeutic Approaches

To facilitate research projects using the Rare and Undiagnosed Disease Biobank to identify underlying disease mechanisms and potential therapeutic approaches.

Time frame: 5 years

Diagnostic Yield

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.

Time frame: 5 years

Data from ClinicalTrials.gov

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