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Experimental gene therapy targets rare form of duchenne muscular dystrophy

NCT ID NCT04240314

Disease control Sponsor: Megan Waldrop 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
Running, but no longer taking on new participants.
Completed This study
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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 26, 2026 · Last updated Jun 26, 2026

Summary

This early-stage trial tested a single-dose gene therapy called scAAV9.U7.ACCA in 3 boys with Duchenne muscular dystrophy caused by a duplication of exon 2. The therapy was given through a vein and aimed to help muscle cells produce dystrophin, a protein missing in this disease. The main goal was to check for serious side effects, with a secondary look at whether dystrophin levels increased in muscle biopsies.

What this could mean

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

Active substance
scAAV9.U7.ACCA (a gene therapy given as a single injection into a vein)
What this could lead to
If successful, this could point toward a treatment that helps boys with Duchenne muscular dystrophy produce a missing protein, potentially slowing muscle damage.
What could go wrong
This is a very early, small trial (only 3 participants) focused on safety, not effectiveness. The therapy may not work or could cause serious 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

3 people

The number who actually took part.

Started

Jan 2020

Finished

Jul 2025

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

6 months to 13 years

Sex

Male participants only

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: * Age greater than 6 months and less than 14 years * Confirmed duplication of exon 2 in the DMD gene using a clinically accepted technique that completely defines the mutation * Pre-ambulant (not yet walking) or ambulant (as defined by the ability to walk 10 meters without assistance) * Males of any ethnic group will be eligible * Ability to cooperate with muscle testing * In subjects age 4 and above, stable dose and regimen of corticosteroid therapy (prednisone, deflazacort, or their generic forms) for at least 12 weeks prior to gene transfer. Exclusion Criteria: * Active viral infection based on clinical observations * Symptoms or signs of cardiomyopathy, including: 1. Dyspnea on exertion, pedal edema, shortness of breath upon lying flat, or rales at the base of the lungs 2. Echocardiogram with ejection fraction below 40% * Serological evidence of HIV infection, or Hepatitis B or C infection * Diagnosis of (or ongoing treatment for) an autoimmune disease * Persistent leukopenia or leukocytosis (WBC ≤ 3.5 K/µL or ≥ 20.0 K/µL) or an absolute neutrophil count \< 1.5K/µL * Concomitant illness or requirement for chronic drug treatment that in the opinion of the SI creates unnecessary risks for gene transfer * AAV9 binding antibody titers ≥ 1:400 as determined by ELISA immunoassay * Abnormal laboratory values in the clinically significant range as listed in Table 7, based upon normal values in the Nationwide Children's Hospital Laboratory.

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Conditions

The condition(s) this trial relates to.

Duchenne muscular dystrophy

As listed by the trial registrant

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

Duchenne muscular dystrophy

Contacts and locations

Locations

  • Nationwide Children's Hospital

    Columbus, Ohio, 43205, United States

More trials for these conditions

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