Gene Therapy for Duchenne Muscular Dystrophy

No longer recruiting at 11 trial locations

Overseen By Pfizer CT.gov Call Center

Age: Any Age

Sex: Male

Trial Phase: Phase 3

Sponsor: Pfizer

Disqualifiers: Investigator site staff, family members

No Placebo Group All trial participants will receive the active study treatment (no placebo)

Pivotal Trial (Near Approval) This treatment is in the last trial phase before FDA approval

Prior Safety Data This treatment has passed at least one previous human trial

Compensation: Varies

Number of Visits: 1

What You Need to Know Before You Apply

What is the purpose of this trial?

This trial examines the safety and effectiveness of a new gene therapy, fordadistrogene movaparvovec, for people with Duchenne Muscular Dystrophy (DMD). Researchers will follow participants for 10 years to monitor their response to the treatment. The trial includes one in-person visit each year and several remote check-ins. Individuals who received this gene therapy in a previous Pfizer study are well-suited for this trial. As a Phase 3 trial, it represents the final step before FDA approval, providing participants an opportunity to contribute to a potentially groundbreaking treatment.

Do I need to stop my current medications for this trial?

The trial protocol does not specify whether you need to stop taking your current medications.

Will I have to stop taking my current medications?

The trial information does not specify whether you need to stop taking your current medications. It's best to discuss this with the study doctor for guidance.

Is there any evidence suggesting that fordadistrogene movaparvovec is likely to be safe for humans?

Research has shown that fordadistrogene movaparvovec, a gene therapy for Duchenne muscular dystrophy, is generally safe. In earlier studies with ambulatory boys, this therapy was usually well-tolerated.

Initial results suggest that the potential benefits of the therapy might outweigh the risks. Researchers have specifically assessed its cardiac safety, and early observations indicate it is safe in this regard. While any treatment can have side effects, current data suggests this gene therapy is safe for patients. ^{1 2 3 4 5}

Why do researchers think this study treatment might be promising?

Researchers are excited about fordadistrogene movaparvovec for Duchenne Muscular Dystrophy because it offers a new approach through gene therapy. Unlike traditional treatments, which focus mainly on managing symptoms and minimizing complications, this therapy targets the root cause by delivering a functional copy of the dystrophin gene directly into muscle cells. This innovative approach aims to restore the production of the dystrophin protein, which is crucial for muscle health. If successful, it could significantly alter the course of the disease, offering hope for long-term benefits rather than temporary relief.

What evidence suggests that fordadistrogene movaparvovec might be an effective treatment for Duchenne Muscular Dystrophy?

Research has shown that fordadistrogene movaparvovec, a type of gene therapy, may help treat Duchenne Muscular Dystrophy (DMD). This therapy delivers a smaller version of the dystrophin gene to strengthen muscles. Early results suggest it is generally safe and does not cause serious side effects. Initial studies indicate it may improve movement abilities in boys with DMD. This therapy aims to address the root cause of DMD by restoring some muscle function. ^{1 3 4 5 6}

Who Is on the Research Team?

Pfizer CT.gov Call Center

Principal Investigator

Pfizer

Are You a Good Fit for This Trial?

This trial is for individuals who have Duchenne Muscular Dystrophy and were part of previous Pfizer studies where they received the gene therapy fordadistrogene movaparvovec. Participants will be monitored for 10 years with annual onsite visits and additional remote check-ins.

Inclusion Criteria

I have previously received fordadistrogene movaparvovec in a Pfizer study.

Exclusion Criteria

Investigator site staff directly involved in the study and their family members

Timeline for a Trial Participant

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks

Long-term Follow-up

Participants are monitored for safety and effectiveness of the gene therapy for 10 years

10 years

1 annual onsite visit and a few annual remote visits

Extension

Participants continue to be monitored for changes in ambulatory and upper limb function

5 years

What Are the Treatments Tested in This Trial?

Interventions

• fordadistrogene movaparvovec

Trial Overview

The study focuses on the long-term safety and effects of an experimental gene therapy called fordadistrogene movaparvovec, which was administered in earlier trials. The follow-up includes yearly in-person assessments alongside several virtual visits.

How Is the Trial Designed?

Group I: All participants Experimental Treatment 1 Intervention

All participants enrolled in the study.

Who Is Running the Clinical Trial?

Pfizer

Lead Sponsor

Trials

4,712

Recruited

50,980,000+

Known For

Vaccine Innovations

Top Products

Viagra, Zoloft, Lipitor, Prevnar 13

Albert Bourla

Pfizer

Chief Executive Officer since 2019

PhD in Biotechnology of Reproduction, Aristotle University of Thessaloniki

Patrizia Cavazzoni

Pfizer

Chief Medical Officer

MD from McGill University

Published Research Related to This Trial

In a Phase 2 study involving 51 ambulant Duchenne muscular dystrophy (DMD) patients, drisapersen at a dose of 6 mg/kg/week showed a potential benefit in improving the 6-minute walking distance (6MWD) compared to placebo, with a mean difference of 27.1 meters at week 24.

Drisapersen was generally well-tolerated, with the most common side effects being injection site reactions and subclinical proteinuria, indicating a manageable safety profile for this treatment.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Placebo-controlled Phase 2 Trial of Drisapersen for Duchenne Muscular Dystrophy. McDonald, CM., Wong, B., Flanigan, KM., et al.[2022]

Delandistrogene moxeparvovec (SRP-9001) successfully induced dystrophin expression in all patients with Duchenne muscular dystrophy, achieving a mean change from baseline of 23.82% at Week 12 and 39.64% at Week 48, indicating its efficacy as a gene transfer therapy.

While the overall change in North Star Ambulatory Assessment (NSAA) scores was not statistically significant for the entire population, younger patients (4-5 years) with matched baseline motor function showed a significant improvement of +2.5 points, suggesting that age and baseline function may influence treatment outcomes.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Expression of SRP-9001 dystrophin and stabilization of motor function up to 2 years post-treatment with delandistrogene moxeparvovec gene therapy in individuals with Duchenne muscular dystrophy. Mendell, JR., Shieh, PB., McDonald, CM., et al.[2023]

Delandistrogene moxeparvovec is the first gene therapy approved for Duchenne muscular dystrophy (DMD) in the USA, specifically for ambulatory children aged 4 to 5 years with a confirmed mutation in the dystrophin gene.

This therapy uses an adeno-associated virus vector to deliver a micro-dystrophin gene to muscle cells, aiming to improve muscle function in DMD patients, and is administered as a single intravenous infusion at a dose of 1.33 × 10^14 vector genomes per kg.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Delandistrogene Moxeparvovec: First Approval. Hoy, SM.[2023]

Delandistrogene moxeparvovec is a gene therapy that has shown a favorable safety profile in a small trial of 4 ambulatory boys aged 4 to 5 years with Duchenne muscular dystrophy, with all treatment-related adverse events resolving within 70 days.

The therapy resulted in significant functional improvements, with the North Star Ambulatory Assessment (NSAA) score increasing from 20.5 to 27.5 over 4 years, indicating that it may positively influence disease progression in DMD patients.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Long-term safety and functional outcomes of delandistrogene moxeparvovec gene therapy in patients with Duchenne muscular dystrophy: A phase 1/2a nonrandomized trial. Mendell, JR., Sahenk, Z., Lehman, KJ., et al.[2023]

Adeno-associated virus-mediated gene therapy using fordadistrogene movaparvovec showed promising results in a dystrophin-deficient rat model of Duchenne muscular dystrophy (DMD), with improvements in muscle strength, tissue architecture, and cardiac function directly linked to the dose administered.

The therapy was effective even in older rats with a more severe form of DMD, indicating its potential applicability for patients at various stages of the disease.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Evaluation of an AAV9-mini-dystrophin gene therapy candidate in a rat model of Duchenne muscular dystrophy. Le Guiner, C., Xiao, X., Larcher, T., et al.[2023]

Citations

1.

clinicaltrials.gov

clinicaltrials.gov/study/NCT05429372

Study of Fordadistrogene Movaparvovec in Early Stage ...

The study will assess the safety and tolerability of fordadistrogene movaparvovec gene therapy. Approximately 10 participants will be enrolled in the study ...

2.

pubmed.ncbi.nlm.nih.gov

pubmed.ncbi.nlm.nih.gov/40579547/

AAV mini-dystrophin gene therapy for Duchenne muscular ...

Fordadistrogene movaparvovec (PF-06939926) is an adeno-associated virus serotype 9 gene therapy containing a miniaturized dystrophin being developed for DMD.

3.

nature.com

nature.com/articles/s41591-025-03750-3

AAV mini-dystrophin gene therapy for Duchenne muscular ...

Fordadistrogene movaparvovec (PF-06939926) is an adeno-associated virus serotype 9 gene therapy containing a miniaturized dystrophin being developed for DMD.

4.

clinicaltrials.gov

clinicaltrials.gov/study/NCT04281485

Study to Evaluate the Safety and Efficacy of PF-06939926 ...

The study will assess the efficacy of PF-06939926 gene therapy on ambulatory function while also monitoring its safety. Approximately 99 boys with DMD will be ...

5.

mdaconference.org

mdaconference.org/abstract-library/one-year-data-from-ambulatory-boys-in-a-phase-1b-open-label-study-of-fordadistrogene-movaparvovec-pf-06939926-for-duchenne-muscular-dystrophy-dmd/

One year data from ambulatory boys in a phase 1b, open- ...

Preliminary results indicate that fordadistrogene movaparvovec has an acceptable safety profile and potential to benefit ambulatory DMD patients.

6.

pubmed.ncbi.nlm.nih.gov

pubmed.ncbi.nlm.nih.gov/40583273/

Cardiac safety of fordadistrogene movaparvovec gene ...

Cardiac safety of fordadistrogene movaparvovec gene therapy in Duchenne muscular dystrophy: Initial observations from a phase 1b trial · Authors.