Gene Therapy (PF-06939926) for Duchenne Muscular Dystrophy

Recruiting at 11 trial locations

Overseen By Pfizer CT.gov Call Center

Age: < 18

Sex: Male

Trial Phase: Phase 2

Sponsor: Pfizer

Must not be taking: Oral glucocorticoids

Disqualifiers: Gene therapy, Antibody positive, others

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

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

Compensation: Varies

Number of Visits: 11

Duration: 1 day

10 Participants Needed

What You Need to Know Before You Apply

What is the purpose of this trial?

The study will evaluate the safety and dystrophin expression following gene therapy in boys with Duchenne Muscular Dystrophy (DMD). It is a single-arm, non-randomized, open-label study

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

The trial does not specify if you need to stop taking your current medications, but it excludes those who have had certain treatments to increase dystrophin expression in the past 6 months or have used oral glucocorticoids or other immunosuppressive agents for DMD.

How is the treatment PF-06939926 for Duchenne Muscular Dystrophy different from other treatments?

PF-06939926 is a gene therapy that uses a virus to deliver a modified version of the dystrophin gene to muscle cells, aiming to restore the production of dystrophin, a protein missing in Duchenne Muscular Dystrophy. This approach is unique because it targets the root cause of the disease by addressing the genetic defect, unlike traditional treatments that only manage symptoms. ^{1 2 3 4 5}

What data supports the effectiveness of the treatment PF-06939926 for Duchenne Muscular Dystrophy?

Gene therapy, like PF-06939926, is being explored for Duchenne Muscular Dystrophy, with research showing progress in similar treatments using gene transfer techniques that improve muscle function in animal models. While specific data on PF-06939926 is not provided, advancements in gene therapy for similar conditions suggest potential effectiveness. ^{1 3 5 6 7}

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 boys with a confirmed diagnosis of Duchenne Muscular Dystrophy (DMD) who haven't had gene therapy before. They must have normal blood counts and liver/kidney function, no specific genetic mutations in the dystrophin gene, and no recent treatments aimed at increasing dystrophin expression.

Inclusion Criteria

I have a confirmed genetic diagnosis of Duchenne Muscular Dystrophy.

Exclusion Criteria

My genetic test shows a specific mutation in the dystrophin gene.

I have taken steroids or other immune-weakening drugs for Duchenne Muscular Dystrophy.

I haven't had treatments to boost dystrophin in the last 6 months.

Timeline for a Trial Participant

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks

1 visit (in-person)

Treatment

Participants receive a single IV infusion of PF-06939926 gene therapy

1 day

1 visit (in-person)

Follow-up

Participants are monitored for safety and dystrophin expression after treatment

5 years

Regular visits (in-person) at Week 9, Week 52, and annually

What Are the Treatments Tested in This Trial?

Interventions

• PF-06939926

Trial Overview The study tests Fordadistrogene Movaparvovec (PF-06939926), a gene therapy for DMD. It's an open-label study where all participants receive the treatment to assess safety and how well it promotes dystrophin production.

How Is the Trial Designed?

Group I: PF-06939926 Experimental Treatment 1 Intervention

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

Current therapies for Duchenne muscular dystrophy (DMD) include gene therapy, cell therapy, and pharmacological therapy, each targeting different aspects of the disease's progression.

Despite advancements, there is still no cure for DMD due to challenges in gene replacement and the complex nature of the symptoms, highlighting the need for more effective treatments.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Development of therapy for Duchenne muscular dystrophy. Zhang, S., Xie, H., Zhou, G., et al.[2012]

The first-in-human study of DEC cell therapy for Duchenne Muscular Dystrophy (DMD) showed no adverse events in the first 3 patients over 14 months, indicating a strong safety profile for this novel treatment.

Patients receiving DEC therapy demonstrated significant improvements in muscle function and strength, as measured by various functional tests, suggesting that this therapy could effectively enhance quality of life for DMD patients without the need for immunosuppression.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Dystrophin Expressing Chimeric (DEC) Cell Therapy for Duchenne Muscular Dystrophy: A First-in-Human Study with Minimum 6 Months Follow-up. Heydemann, A., Bieganski, G., Wachowiak, J., et al.[2023]

The DT-DEC01 cell therapy demonstrated a strong safety profile with no adverse events reported up to 21 months after administration, indicating it is a safe treatment option for patients with Duchenne Muscular Dystrophy (DMD).

Functional improvements were observed in patients, including better performance in the 6-Minute Walk Test and other assessments, suggesting that DT-DEC01 may effectively enhance muscle function and overall health in DMD patients over a 12-month period.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Safety and Efficacy of DT-DEC01 Therapy in Duchenne Muscular Dystrophy Patients: A 12 - Month Follow-Up Study After Systemic Intraosseous Administration. Siemionow, M., Biegański, G., Niezgoda, A., et al.[2023]

The micro-dystrophin gene transfer using rAAVrh74.MHCK7 was found to be well tolerated in a phase 1/2a trial with four young patients, showing only mild to moderate adverse events and no serious complications over one year.

All patients demonstrated significant expression of micro-dystrophin in muscle fibers and improvements in functional measures, such as North Star Ambulatory Assessment scores and reduced creatine kinase levels, indicating potential benefits beyond standard care for Duchenne muscular dystrophy.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Assessment of Systemic Delivery of rAAVrh74.MHCK7.micro-dystrophin in Children With Duchenne Muscular Dystrophy: A Nonrandomized Controlled Trial. Mendell, JR., Sahenk, Z., Lehman, K., et al.[2021]

Gene therapy using a 6.3 kb minidystrophin cDNA delivered via adenovirus was effective in treating muscular dystrophy in neonatal mdx mice, suggesting a potential approach for Duchenne muscular dystrophy (DMD).

However, adult mice experienced strong immune reactions to the adenovirus, indicating that using a modified adenovirus with dystrophin cDNA or upregulating endogenous utrophin could be safer and more effective strategies for treating DMD.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

[Gene therapy to muscle diseases: perspective and issues on basic research]. Takeda, S.[2012]

Gene therapy using dystrophin cDNAs in dystrophin-deficient mice shows promise for treating Duchenne muscular dystrophy (DMD), with regional restoration of muscle morphology observed in transgenic models.

Direct injection methods yielded low expression rates of dystrophin in adult muscle fibers, but recombinant adenovirus vectors showed greater efficiency in young mice, highlighting the need for improved delivery systems for effective treatment.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Gene therapy in Duchenne muscular dystrophy. Inui, K., Okada, S., Dickson, G.[2019]

Citations

1. China pubmed.ncbi.nlm.nih.gov

Development of therapy for Duchenne muscular dystrophy. [2012]

2. England pubmed.ncbi.nlm.nih.gov

Gene therapy research for Duchenne and Becker muscular dystrophies. [2019]

3. United States pubmed.ncbi.nlm.nih.gov

Dystrophin Expressing Chimeric (DEC) Cell Therapy for Duchenne Muscular Dystrophy: A First-in-Human Study with Minimum 6 Months Follow-up. [2023]

4. United States pubmed.ncbi.nlm.nih.gov

Safety and Efficacy of DT-DEC01 Therapy in Duchenne Muscular Dystrophy Patients: A 12 - Month Follow-Up Study After Systemic Intraosseous Administration. [2023]

5. United States pubmed.ncbi.nlm.nih.gov

Assessment of Systemic Delivery of rAAVrh74.MHCK7.micro-dystrophin in Children With Duchenne Muscular Dystrophy: A Nonrandomized Controlled Trial. [2021]

6. Japan pubmed.ncbi.nlm.nih.gov

[Gene therapy to muscle diseases: perspective and issues on basic research]. [2012]

7. Netherlands pubmed.ncbi.nlm.nih.gov

Gene therapy in Duchenne muscular dystrophy. [2019]