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Rare and Undiagnosed Disease Research Biorepository

NCT04703179 · Status: ENROLLING_BY_INVITATION · Type: OBSERVATIONAL · Enrollment: 5000

Last updated 2025-12-15

No results posted yet for this study

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

Interventions

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.

Sponsors & Collaborators

Principal Investigators

  • Filippo Pinto e Vairo, MD, PhD · Mayo Clinic

Eligibility

Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2020-11-20
Primary Completion
2026-11-30
Completion
2026-11-30

Countries

  • United States

Study Locations

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Entities

Diseases
Companies

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04703179 on ClinicalTrials.gov