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Clinical Trial Details — Status: Enrolling by invitation

Administrative data

NCT number NCT04703179
Other study ID # 19-003389
Secondary ID
Status Enrolling by invitation
Phase
First received
Last updated
Start date November 20, 2020
Est. completion date November 2025

Study information

Verified date March 2024
Source Mayo Clinic
Contact n/a
Is FDA regulated No
Health authority
Study type Observational [Patient Registry]

Clinical Trial 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.


Recruitment information / eligibility

Status Enrolling by invitation
Enrollment 5000
Est. completion date November 2025
Est. primary completion date November 2025
Accepts healthy volunteers Accepts Healthy Volunteers
Gender All
Age group N/A and older
Eligibility 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)

Study Design


Related Conditions & MeSH terms


Intervention

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.

Locations

Country Name City State
United States Mayo Clinic in Florida Jacksonville Florida
United States Mayo Clinic in Rochester Rochester Minnesota
United States Mayo Clinic in Arizona Scottsdale Arizona

Sponsors (1)

Lead Sponsor Collaborator
Mayo Clinic

Country where clinical trial is conducted

United States, 

Outcome

Type Measure Description Time frame Safety issue
Primary Enrollment of Study Participants 5,000 participants to be accrued 5 years
Secondary 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. 5 years
Secondary 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. 5 years
Secondary 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. 5 years
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