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Custom-Made drug targets rare genetic brain disorder in Single-Child trial

NCT ID NCT06369974

Disease control Sponsor: Massachusetts General Hospital 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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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

This study tests a personalized drug called nL-TUBB4-001, designed specifically for one child with TUBB4A-related leukodystrophy, a rare genetic disease that damages the brain. The drug is an antisense oligonucleotide, which aims to correct the genetic error. The trial will monitor the child's development, movement, feeding, and safety over 24 months.

What this could mean

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

Active substance
nL-TUBB4-001 (personalized antisense oligonucleotide)
What this could lead to
If it works, this could point toward a treatment for TUBB4A-related leukodystrophy, a rare genetic brain disease.
What could go wrong
This is an extremely early trial with only one participant, so results may not apply to others. The treatment is experimental and may not improve symptoms or could cause side effects.

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

About 1 person

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

Started

Sep 2024

Expected to finish

Jun 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.

Ages

4 years and older

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/Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum (H-ABC) * 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 enrolment * 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

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

    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

  • Massachusetts General Hospital

    Boston, Massachusetts, 02114, United States

More trials for these conditions

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