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Precision genetic therapy aims to slow rare brain disease

NCT ID NCT07215416

Disease control Sponsor: Timothy Yu Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now This study
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
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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 early-stage trial tests a drug called atipeksen for people with Ataxia-Telangiectasia (A-T), a rare genetic disease that affects movement and coordination. The drug is designed to fix a specific genetic error in the ATM gene and is given via spinal injection. The study will enroll 10 participants to check if the treatment is safe and can slow the progression of neurological symptoms.

What this could mean

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

Active substance
atipeksen (a genetic therapy given via spinal injection)
What this could lead to
If successful, this could slow or stop the worsening of neurological symptoms in people with a specific form of Ataxia-Telangiectasia, improving daily function and quality of life.
What could go wrong
This is a very early, small trial (10 participants) testing safety and effectiveness. The therapy only works for people with a specific genetic mutation, and it may not work for everyone or could cause side effects from the spinal injections.

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 10 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

Dec 2036

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

0 to 17 years

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/EXCLUSION CRITERIA: Who can take part: * People with classic A-T confirmed by genetic testing * Must have a specific ATM gene change (c.7865C\>T) * Must also have another ATM change that causes A-T Who cannot take part: People with health problems that make lumbar puncture unsafe: * Blood clotting or bleeding problems * Brain conditions raising pressure inside the head * Serious heart or breathing problems * Infection near the lower back Other things doctors will check: * Overall health and stability * Any medicines that might cause problems * Past difficulties with lumbar punctures * Any other safety concerns

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Conditions

The condition(s) this trial relates to.

ataxia telangiectasia

As listed by the trial registrant

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

Ataxia-telangiectasia

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

  • Boston Children's Hospital

    RECRUITING

    Boston, Massachusetts, 02115, United States

More trials for these conditions

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