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Hackathon for the undiagnosed: mayo clinic launches repository to crack rare disease cases

NCT ID NCT07714161

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 This study
Registered, but not yet taking participants.
By invitation only
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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 Jul 20, 2026 · Last updated Jul 21, 2026 · Updated 1 time

Summary

This study creates a biospecimen and data repository at Mayo Clinic to help evaluate patients with rare or undiagnosed genetic conditions. Participants, who have already had standard genetic testing without a diagnosis, will provide samples and medical data. A multidisciplinary team will then review each case in a structured 'hackathon' to try to find answers.

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 repository could help uncover new diagnoses for people with rare or undiagnosed conditions, potentially guiding future treatments.
What could go wrong
This is an observational repository study, not a treatment trial. It may not lead to immediate answers for all participants, and the approach may not work for every case.

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 50 people

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

Expected to start

Aug 2026

An estimate. Start dates often move.

Expected to finish

Aug 2027

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

Patients receiving or having received care at Mayo Clinic who have rare or undiagnosed conditions and who are nominated by a Mayo Clinic clinician sponsor and selected by the study team.

Ages

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

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

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: * Patients receiving or having received care at Mayo Clinic with rare or undiagnosed conditions; of any age (including pediatric); who can provide informed consent or have a legally authorized representative (LAR). * Patients who have undergone prior standard genetic testing that was non-diagnostic; and who are nominated by a Mayo Clinic clinician sponsor and selected by the Study Team. Exclusion Criteria: * Patients with a confirmed molecular or clinical diagnosis that fully explains their phenotype * Patients unable to provide consent and without a legally authorized representative (LAR) * Patients for whom sample collection cannot be coordinated * Patients enrolled in a clinical trial that precludes ancillary genomic research (evaluated on a case-by-case basis) * Prisoners will not be included in this study

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Conditions

The condition(s) this trial relates to.

hereditary disease Rare Diseases Undiagnosed Diseases

As listed by the trial registrant

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

Genetic diseases Rare diseases Undiagnosed diseases

How to take part

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

  1. The places running it

    1 site. The list below names each one and where it is.

  2. The official record

    ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.

    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

    Rochester, Minnesota, 55905, United States

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