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Massive biobank aims to crack the code of rare diseases

NCT ID NCT04703179

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

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only This study
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

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.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Participants

About 5,000 people

The number the study aims to enrol. It can still change while the study runs.

Started

Nov 2020

Expected to finish

Nov 2026

An estimate. End dates often move.

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

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.

Ages

Children (under 18), adults (18 to 64) and older adults (65 and over)

Sex

Anyone

Healthy volunteers

Accepted

You do not need to have the condition being studied to take part.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

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)

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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.

Rare diseases Undiagnosed disease

How to take part

Only the study team decides who joins. These are the ways to reach them.

  1. The places running it

    3 sites. The list below names each one and where it is.

  2. The official record

    The full official record for this study. This one lists no contact details, but it is the first place any would appear.

    Open the record ↗

  3. A doctor treating you

    A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.

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

More trials for these conditions

Other studies related to the condition(s) this trial covers.