Rare and Undiagnosed Disease Research Biorepository (PRaUD)

March 11, 2024 updated by: Filippo Pinto e Vairo, Mayo Clinic
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 Overview

Status

Enrolling by invitation

Conditions

Intervention / Treatment

Study Type

Observational

Enrollment (Estimated)

5000

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • United States
    • Arizona
      • Scottsdale, Arizona, United States, 85259
        • Mayo Clinic in Arizona
    • Florida
      • Jacksonville, Florida, United States, 32224
        • Mayo Clinic in Florida
    • Minnesota
      • Rochester, Minnesota, United States, 55905
        • Mayo Clinic in Rochester

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

Yes

Sampling Method

Non-Probability Sample

Study Population

Subjects with any rare and undiagnosed disease. Both affected and unaffected family members may also be invited for participation as part of the genetic evaluation.

Description

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 Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Enrollment of Study Participants
Time Frame: 5 years
5,000 participants to be accrued
5 years

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Body-of-Knowledge
Time Frame: 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.
5 years
Discovery of Disease Mechanisms and Therapeutic Approaches
Time Frame: 5 years
To facilitate research projects using the Rare and Undiagnosed Disease Biobank to identify underlying disease mechanisms and potential therapeutic approaches.
5 years
Diagnostic Yield
Time Frame: 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.
5 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Mayo Clinic

Investigators

  • Principal Investigator: Filippo Pinto e Vairo, MD, PhD, Mayo Clinic

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

Helpful Links

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

November 20, 2020

Primary Completion (Estimated)

November 1, 2025

Study Completion (Estimated)

November 1, 2025

Study Registration Dates

First Submitted

January 7, 2021

First Submitted That Met QC Criteria

January 8, 2021

First Posted (Actual)

January 11, 2021

Study Record Updates

Last Update Posted (Actual)

March 12, 2024

Last Update Submitted That Met QC Criteria

March 11, 2024

Last Verified

March 1, 2024

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 19-003389

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

product manufactured in and exported from the U.S.

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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