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One-Person trial aims to tackle rare genetic brain disease

NCT ID NCT07222371

Disease control Sponsor: University of California, San Diego 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
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 This study
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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 27, 2026 · Last updated Jun 27, 2026

Summary

This study tests a custom-made drug called an antisense oligonucleotide in a single person with TUBB4A-related leukodystrophy, a rare genetic disorder that affects the brain's white matter. The drug is designed to target the specific genetic mutation causing the disease. Researchers will measure changes in movement, dystonia (involuntary muscle contractions), and daily functioning over time.

What this could mean

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

Active substance
personalized antisense oligonucleotide (nL-TUBB4-001)
What this could lead to
If it works, this could point toward a treatment for TUBB4A-related leukodystrophy, a rare genetic brain disorder.
What could go wrong
This is a very early, single-participant study, so results may not apply to others. The treatment is experimental and risks are unknown.

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.

Phase

Phase 1/2

Runs two stages together: safety and dose first, then whether the treatment works.

Participants

1 person

The number who actually took part.

Started

Sep 2025

Expected to finish

Sep 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.

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: * Informed consent/assent provided by the participant (when appropriate), and/or participant's parent(s) or legally authorized representative(s). * Ability to travel to the study site and adhere to study-related follow-up examinations and/or procedures and provide access to participant's medical records. * Clinical phenotype and neuroimaging consistent with a diagnosis of TUBB4A-related leukodystrophy * Documented genetic mutation in TUBB4A Exclusion Criteria: * Participant has any known contraindication to or unwillingness to undergo lumbar puncture * Use of investigational medication within 5 half-lives of the drug at enrollment * Participant has any condition that in the opinion of the Site Investigator, would ultimately prevent the completion of study procedures.

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Conditions

The condition(s) this trial relates to.

hereditary disease TUBB4A-related neurologic disorder

As listed by the trial registrant

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

Genetic disease TUBB4A-related leukodystrophy

Contacts and locations

Locations

  • Rady Children's Hospital San Diego

    San Diego, California, 92123, United States

More trials for these conditions

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