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Mayo clinic launches quest for custom drugs for rare genetic diseases

NCT ID NCT05236595

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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 24, 2026 · Last updated Jun 27, 2026 · Updated 1 time

Summary

This study at Mayo Clinic aims to find people with rare genetic diseases who might benefit from a custom-made drug designed to target their specific genetic change. Researchers will collect samples like blood and skin biopsies to develop and test potential treatments. The goal is to eventually create new therapies for conditions that currently have no good options.

What this could mean

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

Active substance
individualized drug matching per genetic disease
What this could lead to
If successful, this could lead to new personalized treatments for people with rare genetic diseases that currently have no options.
What could go wrong
This is an early-stage research study focused on identifying candidates and developing drugs, not testing them yet. Many potential drugs may not work or be safe.

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.

Started

Nov 2021

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

Individuals who have been diagnosed with a rare genetic disorder for which adequate or curative treatment is not currently available.

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. * Individual must have evidence of a genetic disorder as determined by a provider or genetic counselor with causative or likely causative genetic variants identified by molecular testing. * Genetic variants must be hypothesized to be targetable using antisense oligonucleotide drugs (such as: knockdown gain of function alterations, increase protein production for reduced function alterations, or modulate mRNA splicing to correct abnormal splicing, promote normal splicing, or return reading frame to an out-of-frame transcript to restore function, etc.) based on current acceptable understanding of ASO mechanisms of action and tissue/organ targeting efficiency. * Biological family member of an enrolled individual. * Would be able to travel to a Mayo Clinic site for ongoing treatment should a therapeutic be developed. * Treatment at the individual's current disease state would likely provide benefit based on current clinical data and understanding of the progression of the disease. -Or- * Biological family member of an enrolled individual * Able to provide informed consent or has a LAR available to provide informed consent 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.

hereditary disease Undiagnosed Diseases

As listed by the trial registrant

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

Rare genetic disease 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

    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 Florida

    Jacksonville, Florida, 32224, United States

  • Mayo Clinic Rochester

    Minneota, Minnesota, 55905, United States

  • Mayo Clinic in Arizona

    Scottsdale, Arizona, 85259, United States

More trials for these conditions

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