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Recruiting NCT07429240

PBGENE-DMD Phase 1/2a Safety and Preliminary Efficacy Study in Duchenne Muscular Dystrophy (FUNCTION-DMD)

Phase I / Phase II Interventional Duchenne Muscular Dystrophy With Mutations Amenable to PBGENE-DMD

For patients and families

In plain language

An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.

What is being studied
The protocol lists: PBGENE-DMD (IV).
Who it may be relevant to
Registry conditions: Duchenne Muscular Dystrophy With Mutations Amenable to PBGENE-DMD. Basic parameters: 2 years — 7 years · Male.
What needs checking
Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
Where it takes place
United States
Next step
Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →

Unsure about the terms? Read our patient guide →

Official title

A Phase 1/2a, Multi-center, Open-label Study to Evaluate the Safety, Tolerability, and Preliminary Efficacy of PBGENE-DMD in Participants With Duchenne Muscular Dystrophy (FUNCTION-DMD)

Overview

The purpose of this Phase 1/2a trial is to evaluate the safety, tolerability, and preliminary efficacy of PBGENE-DMD in patients with DMD harboring mutations amenable to excision of exons 45-55. Given the limitations of existing therapeutic strategies, PBGENE-DMD represents a novel, innovative approach with the potential for a one-time, durable correction of the underlying genetic defect in the largest molecular subset of patients with DMD.

Detailed description

This is a Phase 1/2a, open-label, multicenter trial designed to evaluate the safety, tolerability, and primary efficacy of a single IV dose of PBGENE-DMD in male participants with DMD presenting with mutations that may be amenable to treatment with PBGENE-DMD. A structured, multimodal, short-term immunomodulatory regimen will be administered around the time of dosing to mitigate the risk of potential immune-mediated responses.

The trial consists of two parts: Part 1 is to confirm a safe and well-tolerated single dose of PBGENE-DMD that may be further evaluated in Part 2 (expansion).

A total of up to 18 participants may be enrolled in this trial. Total duration of trial participation for each participant: approximately 130 weeks.

Interventions

  • Biological PBGENE-DMD (IV)
    Participants will receive a single dose of PBGENE-DMD

Primary outcome measures

  • Incidence, severity, and causality of treatment-emergent adverse events and serious adverse events [Time frame: From Dosing through Week 104]
Secondary outcome measures (1)
  • Dystrophin expression in skeletal muscle [Time frame: Week 12, Week 52]

Eligibility criteria

Inclusion criteria

  • Males, 2 to 7 years of age, inclusive, at the time of informed consent/assent
  • Molecular confirmed DMD diagnosis (DMD mutation fully contained between exons 45 to 55 \[inclusive\])
  • Clinical phenotype consistent with DMD in the opinion of the Investigator
  • Ability to complete age-appropriate motor testing assessments requirements.

Participants aged 2 to < 4 years at the time of screening must:

  • Be able to walk at least 10 meters independently (without assistive devices).
  • Be able to rise from the floor without physical assistance (use of a Gowers' maneuver is acceptable).

Participants aged 4 to 7 years at the time of screening must:

  • Be able to walk at least 100 meters independently (without assistive devices).
  • Have an NSAA total score between 16 and 29, inclusive.
  • Participant has received age-appropriate routine childhood immunizations per the local country's national immunization schedule.
  • The participant's parent(s)/LAR(s) are willing and able to provide written informed consent prior to the initiation of any trial-specific procedures; where applicable, the participant must provide written or verbal assent in accordance with local regulations.
  • The participant and their parent(s)/LAR(s) are willing to participate in a LTFU study after the completion of this trial.

Exclusion criteria

  • Prior treatment with any gene therapy, gene editing therapy, or cell-based therapy at any time.
  • Receipt of any investigational medication or experimental therapy within 6 months prior to Day 1.
  • Prior or ongoing use of any product designed to increase dystrophin expression, investigational, or otherwise, including exon-skipping therapies, within 6 months of the scheduled Day 1 dose or inability or unwillingness to refrain from initiating or resuming these therapies for at least 5 years following gene therapy administration.
  • Prior ongoing use of any product designed to increase dystrophin expression, investigational, or otherwise, including exon-skipping therapies, within 6 months of the scheduled Day 1 dose.
  • Concurrent enrollment in another clinical trial, unless it is observational (non-interventional).
  • A positive test for antibodies to AAV9
  • A participant has any condition that would contraindicate treatment with immunosuppression.
  • Participants with pathogenic mutations in exons 1-44 and/or exons 56-79.
  • Evidence of cardiomyopathy or clinically significant left ventricular dysfunction, defined as LVEF <50% on screening echocardiogram.

Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.

Healthy volunteers: No

Study design

Allocation
N/A
Model
Single group
Masking
Open label
Primary purpose
Treatment

Study locations

United States · 2 centers
  • Arkansas Children's Hospital — Little Rock
  • Washington University School of Medicine — St Louis

Identifiers

NCT: NCT07429240 · PBGENE-DMD-01

Primary sources (government registries)

View this study on ClinicalTrials.gov ↗