Massive biobank aims to crack the code of rare diseases

NCT ID NCT04703179

ENROLLING_BY_INVITATION Knowledge-focused Sponsor: Mayo Clinic Source: ClinicalTrials.gov ↗

First seen Jun 25, 2026 · Last updated Jun 27, 2026 · Updated 1 time

Summary

Mayo Clinic is creating a biobank of samples from 5,000 people with rare or undiagnosed diseases, along with their family members. Researchers will analyze DNA, RNA, and other samples to find markers and causes of these conditions. The goal is to build a library of information that could lead to better diagnosis and treatment in the future.

What this could mean

Our plain-language read of the trial. This is informational only — not medical advice or a prediction.

What this could lead to

If successful, this biobank could help researchers discover new disease markers and causes, pointing toward better diagnosis and treatments for rare and undiagnosed conditions.

What could go wrong

This is an observational study, not a treatment trial. It may take years to yield useful results, and not all participants will receive a diagnosis or direct benefit.

Disclaimer Read more

This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.

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Conditions

The condition(s) this trial relates to.

Rare Diseases Undiagnosed Diseases

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Contacts and locations

Locations

  • Mayo Clinic in Arizona

    Scottsdale, Arizona, 85259, United States

  • Mayo Clinic in Florida

    Jacksonville, Florida, 32224, United States

  • Mayo Clinic in Rochester

    Rochester, Minnesota, 55905, United States