Rare and Undiagnosed Disease Research Biorepository

Launched by MAYO CLINIC · Jan 8, 2021

Keywords

ClinConnect Summary

This Mayo Clinic study, called the Rare and Undiagnosed Disease Research Biorepository (PRaUD), is not testing a treatment. Instead, researchers are collecting DNA and other biological samples (blood, urine, tissue, saliva, etc.) and building a large library of information to learn more about rare and hard-to-diagnose diseases. The goal is to enroll up to 5,000 people over about five years and, over time, use the information to understand disease causes, improve diagnostic techniques, and explore potential new treatments. Some participants may have multi-omics testing (a broad look at genes, proteins, and other molecules) to help with diagnosis or discovery.

Who can participate and what to expect: people of any age and sex with a rare or undiagnosed disease, as well as biological family members who may be invited for genetic evaluation, and even healthy volunteers. To join, you need a Mayo Clinic or other medical ID and to be able to give informed consent. Exclusion criteria include situations that would make study participation hard or being institutionalized. The study will collect samples (primarily blood, with other samples if possible) and may follow your health information through medical records and occasional contact for up to five years. It’s being conducted at Mayo Clinic sites in Arizona, Florida, and Minnesota, and individual data are not shared with outside researchers.

Gender

ALL

Eligibility 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)