Rare and Undiagnosed Disease Research Biorepository

NCT04703179 | Enrolling By Invitation

• 1 other identifier: 19-003389
• Study Type: observational
• Target: 5,000
• Locations: 1 country
• Sites: 3

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.

Conditions

Undiagnosed Disease; Rare Diseases

Outcome Measures

Primary Outcomes (1)

• Enrollment of Study Participants

  5,000 participants to be accrued

  5 years

Secondary Outcomes (3)

• Body-of-Knowledge

  5 years

• Discovery of Disease Mechanisms and Therapeutic Approaches

  5 years

• Diagnostic Yield

  5 years

Interventions

Genetic test evaluation OTHER

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 Criteria

• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• 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

You may not qualify if:

• Individuals who have situations that would limit compliance with the study requirements
• Institutionalized (i.e. Federal Medical Prison)

Sponsors & Collaborators

• Mayo Clinic: lead

Study Sites (3)

Mayo Clinic in Arizona

Scottsdale, Arizona, 85259, United States

Location

Mayo Clinic in Florida

Jacksonville, Florida, 32224, United States

Location

Mayo Clinic in Rochester

Rochester, Minnesota, 55905, United States

Location

Related Links

• Mayo Clinic Clinical Trials

Biospecimen

Retention: SAMPLES WITH DNA

Research blood collections kits will attempt to be collected on all active study participants. Other samples including urine, stool, tissue, fibroblasts, CSF, RNA, DNA and saliva may also be collected under the protocol.

MeSH Terms

Conditions

Undiagnosed Diseases; Rare Diseases

Condition Hierarchy (Ancestors)

Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Study Officials

• Filippo Pinto e Vairo, MD, PhD

  Mayo Clinic

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Target Duration: 5 Years
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal Investigator

Study Record Dates

• First Submitted: January 7, 2021
• First Posted: January 11, 2021
• Study Start: November 20, 2020
• Primary Completion (Estimated): November 1, 2026
• Study Completion (Estimated): November 1, 2026
• Last Updated: December 15, 2025

Record last verified: 2025-12

Data Sharing

• IPD Sharing: Will not share

Locations

US (3)