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One-Time gene therapy aims to halt rare muscle disease

NCT ID NCT06246513

Disease control Sponsor: Sarepta Therapeutics, Inc. 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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 single dose of SRP-9003 gene therapy in 17 people with limb girdle muscular dystrophy 2E/R4, a genetic muscle-weakening disease. The goal is to restore a missing protein in muscle cells and improve muscle function. Both walkers and non-walkers can join, and the study is now active but not recruiting.

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 3

Large-scale testing in a bigger group. Usually the last step before a treatment can be approved.

Participants

17 people

The number who actually took part.

Started

Jan 2024

Expected to finish

Nov 2029

An estimate. End dates often move.

Lead sponsor

A company

The lead sponsor is a pharmaceutical, biotech, or medical-device company.

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: * Cohort 1, only ambulatory participants: * Able to walk without assistive aid * 10MWR \<30 seconds * NSAD ≥25 * Cohort 2, only non-ambulatory participants: * 10MWR ≥30 seconds or unable to perform * PUL 2.0 entry scale score ≥3 * Participants must possess 1 homozygous or 2 heterozygous pathogenic and/or likely pathogenic β-SG DNA gene mutations * Able to cooperate with muscle testing * Participants must have adeno-associated virus serotype rh74 (AAVrh74) antibody titers \<1:400 (that is, not elevated) as determined by AAVrh74 antibody enzyme-linked immunosorbent assay. Exclusion Criteria: * Left ventricular ejection fraction \< 40% or clinical signs and/or symptoms of cardiomyopathy * Forced vital capacity ≤40% of predicted value and/or requirement for nocturnal ventilation * Diagnosis of (or ongoing treatment for) an autoimmune disease and on active immunosuppressant treatment * Presence of any other clinically significant illness or medical condition (other than LGMD2E/R4) Other inclusion/exclusion criteria apply.

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Conditions

The condition(s) this trial relates to.

autosomal recessive limb-girdle muscular dystrophy type 2E limb-girdle muscular dystrophy

As listed by the trial registrant

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

Limb girdle muscular dystrophy

Contacts and locations

Locations

  • Children's Hospital of The King's Daughter

    Norfolk, Virginia, 23507, United States

  • Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico

    Milan, 20122, Italy

  • Hospital Sant Joan de Deu

    Barcelona, 8950, Spain

  • NMRC Gent (UZ Gent)

    Ghent, 9000, Belgium

  • Nationwide Childrens Hospital

    Columbus, Ohio, 43205, United States

  • Newcastle University

    Newcastle upon Tyne, NE1 3BZ, United Kingdom

  • The Children's Hospital of Philadelphia

    Philadelphia, Pennsylvania, 19104, United States

  • Universitatsklinikum Essen; Kinderklinik I, Sozialpadiatrisches Zentrum

    Essen, North Rhine-Westphalia, 45147, Germany

  • University Hospital Leuven (UZ Leuven)

    Leuven, Vlaams Brabant, 3000, Belgium

  • University of California, San Diego-Altman Clinical and Translational Research Institute

    La Jolla, California, 92037, United States

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