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OpenTrials
Enrolling by Invitation

NCT Number: NCT04703179

Rare and Undiagnosed Disease Research Biorepository

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.

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Key information

Conditions

Undiagnosed Disease Disease Attributes Pathologic Processes Pathological Conditions, Signs and Symptoms Rare Diseases Undiagnosed Diseases

Sex eligibility

All sexes

Study type

Observational

Primary location

Mayo Clinic in Arizona, Scottsdale, Arizona, United States

Loading trial locations.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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)

Treatment and study plan

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.

Primary outcomes

  1. Enrollment of Study Participants

    Time frame: 5 years

    5,000 participants to be accrued

Secondary outcomes

  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.

Sponsors and collaborators

Lead sponsor

Mayo Clinic

Other

Registry information

Acronym: PRaUD

Important dates

Study start
2020
Primary completion
2026
Study completion
2026
First posted
Jan 11, 2021
Registry last updated
Dec 15, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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