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)
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.
• 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.