Rare and Undiagnosed Disease Research Biorepository (PRaUD)

• ClinicalTrials.gov Identifier: NCT04703179
• Recruitment Status: Enrolling by invitation
• First Posted: January 11, 2021
• Last Update Posted: January 12, 2022
• Sponsor: Mayo Clinic
• Information provided by (Responsible Party): Filippo Pinto e Vairo, Mayo Clinic

Study Description

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.

Condition or disease	Intervention/treatment
Undiagnosed Disease; Rare Diseases	Other: Genetic test evaluation

Study Design

• Study Type: Observational [Patient Registry]
• Estimated Enrollment: 5000 participants
• Observational Model: Cohort
• Time Perspective: Prospective
• Target Follow-Up Duration: 5 Years
• Official Title: Rare and Undiagnosed Disease Research Biorepository
• Actual Study Start Date: November 20, 2020
• Estimated Primary Completion Date: November 20, 2025
• Estimated Study Completion Date: November 20, 2026

Groups and Cohorts

Intervention Details:

• 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.

Outcome Measures

Primary Outcome Measures :

1. Enrollment of Study Participants [ Time Frame: 5 years ]
   5,000 participants to be accrued

Secondary Outcome Measures :

1. 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.
2. 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.
3. 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.

Eligibility Criteria

• Ages Eligible for Study: Child, Adult, Older Adult
• Sexes Eligible for Study: All
• 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.

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)

Contacts and Locations

Locations

United States, Arizona

Mayo Clinic in Arizona

Scottsdale, Arizona, United States, 85259

United States, Florida

Mayo Clinic in Florida

Jacksonville, Florida, United States, 32224

United States, Minnesota

Mayo Clinic in Rochester

Rochester, Minnesota, United States, 55905

Sponsors and Collaborators

Mayo Clinic

Investigators

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

More Information

Additional Information:

Mayo Clinic Clinical Trials 

• Responsible Party: Filippo Pinto e Vairo, Principal Investigator, Mayo Clinic
• ClinicalTrials.gov Identifier: NCT04703179
• Other Study ID Numbers: 19-003389
• First Posted: January 11, 2021
• Last Update Posted: January 12, 2022
• Last Verified: January 2022

Individual Participant Data (IPD) Sharing Statement:

• Plan to Share IPD: No

• Studies a U.S. FDA-regulated Drug Product: No
• Studies a U.S. FDA-regulated Device Product: No

Additional relevant MeSH terms:

Rare Diseases; Undiagnosed Diseases; Disease Attributes; Pathologic Processes