Study to Evaluate the Safety and Efficacy of PF-06939926 for the Treatment of Duchenne Muscular Dystrophy

NCT04281485 | Active Not Recruiting Phase 3 Results DMC FDA Drug

• 2 other identifiers: C33910032023-508510-42-00
• Study Type: interventional
• Target: 114
• Locations: 15 countries
• Sites: 53

Brief Summary

The study will evaluate the safety and efficacy of gene therapy in boys with DMD. It is a randomized, double-blind, placebo-controlled study with two thirds of participants assigned to gene therapy. The one third of participants who are randomized to the placebo arm will have an opportunity for treatment with gene therapy at the beginning of the second year.

Conditions

Duchenne Muscular Dystrophy

Keywords

Clinical trial; Gene therapy; Duchenne muscular dystrophy; fordadistrogene movaparvovec

Outcome Measures

Primary Outcomes (1)

• Change From Baseline in North Star Ambulatory Assessment (NSAA) Total Score at Week 52

  The NSAA was a 17-item test that graded performance of various functional skills using the following scale: 0 (unable to achieve independently), 1 (modified method but achieves goal independent of physical assistance from another), and 2 ("normal"- no obvious modification of activity). Total score was calculated as the sum of all 17 individual item responses and ranged from 0 (worst) to 34 (fully independent function) with higher scores indicating better function. Baseline NSAA total score is defined as the last non-missing NSAA total score collected prior to Year 1 drug administration.

  Baseline, Week 52

Secondary Outcomes (9)

• Change From Baseline in Percent Normal Dystrophin Expression Level in Muscle Biopsies by Liquid Chromatography Mass Spectrometry (LC-MS) Based on LLQV Peptide at Week 52

  Baseline, Week 52

• Change From Baseline in Percent of Muscle Fibers Expressing Mini-Dystrophin in Muscle Biopsies by Immunofluorescence at Week 52

  Baseline, Week 52

• Change From Baseline in Serum Creatine Kinase (CK) Concentration at Week 52

  Baseline, Week 52

• Least Square Mean of Proportion of Skills Gained Based on the Individual Items of the NSAA at Week 52

  Baseline, Week 52

• Least Square Mean of Proportion of Skills Either Improved or Maintained Based on the Individual Items of the NSAA at Week 52

  Baseline, Week 52

Study Arms (2)

Cohort 1

OTHER

Approximately two thirds of participants will be randomized to Cohort 1.

Genetic: PF-06939926; Other: Placebo

Cohort 2

OTHER

Approximately one third of participants will be randomized to Cohort 2.

Other: Placebo; Genetic: PF-06939926

Interventions

Placebo OTHER

Placebo will be administered as a single IV infusion at Year 1 for Cohort 2.

Cohort 2

PF-06939926 GENETIC

PF-06939926 will be administered as a single IV infusion at Year 1 for Cohort 1.

Cohort 1

Eligibility Criteria

• Age: 4 Years - 7 Years
• Gender Eligibility Details: Male
• Healthy Volunteers: No
• Age Groups: Child (0-17)

You may qualify if:

• Confirmed diagnosis of Duchenne muscular dystrophy by prior genetic testing
• Receiving a stable daily dose (at least 0.5 mg/kg/day prednisone or prednisolone, or at least 0.75 mg/kg/day deflazacort) for at least 3 months prior to Screening
• Ambulatory, as assessed by protocol-specified criteria

You may not qualify if:

• Positive test performed by Pfizer for neutralizing antibodies to AAV9
• Any treatment designed to increase dystrophin expression within 6 months prior to screening (e.g., Translarna™, EXONDYS 51™, VYONDYS 53™)
• Any prior treatment with gene therapy
• Any non-healed injury that may impact functional testing (eg NSAA)
• Abnormality in specified laboratory tests, including blood counts, liver and kidney function
• Any of the following genetic abnormalities in the dystrophin gene:
• Any mutation (exon deletion, exon duplication, insertion, or point mutation) affecting any exon between exon 9 and exon 13, inclusive; OR
• A deletion that affects both exon 29 and exon 30;OR
• A deletion that affects any exons between 56-71, inclusive.

Sponsors & Collaborators

• Pfizer: lead

Study Sites (53)

Arkansas Children's Hospital

Little Rock, Arkansas, 72202, United States

Location

Arkansas Children's

Little Rock, Arkansas, 72202, United States

Location

UCLA Medical Center

Los Angeles, California, 90095, United States

Location

University of Florida

Gainesville, Florida, 32610, United States

Location

University of Iowa Hospitals and Clinics

Iowa City, Iowa, 52242, United States

Location

KU Clinical Research Center - Clinical and Translational Science Unit (CTSU) - Fairway

Fairway, Kansas, 66205, United States

Location

KU Clinical Research Center - Clinical and Translational Science Unit (CTSU) - Rainbow

Kansas City, Kansas, 66160, United States

Location

University of Kansas Hospital - Investigational Pharmacy

Kansas City, Kansas, 66160, United States

Location

University of Kansas Hospital - Pediatric and Pediatric ICU - Operating Room

Kansas City, Kansas, 66160, United States

Location

University of Kansas Medical Center

Kansas City, Kansas, 66160, United States

Location

Pediatric Cardiology

Prairie Village, Kansas, 66208, United States

Location

Lenox Baker Children's Hospital

Durham, North Carolina, 27705, United States

Location

The Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, 19104, United States

Location

Primary Childrens Hospital

Salt Lake City, Utah, 84113, United States

Location

University of Utah Clinical Neurosciences Center

Salt Lake City, Utah, 84132, United States

Location

University of Utah Hospital

Salt Lake City, Utah, 84132, United States

Location

Seattle Children's

Seattle, Washington, 98105, United States

Location

The Children's Hospital at Westmead

Westmead, New South Wales, 2145, Australia

Location

The Royal Children's Hospital Melbourne

Parkville, Victoria, 3052, Australia

Location

Perth Children's Hospital

Nedlands, Western Australia, 6009, Australia

Location

UZ Gent

Ghent, 9000, Belgium

Location

UZ leuven

Leuven, 3000, Belgium

Location

Alberta Children's Hospital

Calgary, Alberta, T3B 6A8, Canada

Location

Children's Hospital - London Health Sciences Centre

London, Ontario, N6A 4G5, Canada

Location

Childrens Hospital of Eastern Ontario

Ottawa, Ontario, K1H8L1, Canada

Location

The Hospital For Sick Children

Toronto, Ontario, M5G 1X8, Canada

Location

CHU de Nantes- Hotel Dieu

Nantes, 44093, France

Location

Hopital Necker

Paris, 75015, France

Location

Charité - Universitätsmedizin Berlin

Berlin, 13353, Germany

Location

Universitatsklinikum Essen

Essen, 45147, Germany

Location

Hadassah University Medical Center, Ein Kerem

Jerusalem, 91120, Israel

Location

Schneider Children's Medical Center of Israel

Petach Tikvah, 4920235, Israel

Location

Fondazione Policlinico Universitario Agostino Gemelli IRCCS

Roma, 00168, Italy

Location

IRCCS Ospedale Pediatrico Bambino Gesù

Rome, 00165, Italy

Location

Nagoya City University Hospital

Nagoya, Aichi-ken, 467-8602, Japan

Location

Hyogo College of Medicine College Hospital

Nishinomiya, Hyōgo, 663-8501, Japan

Location

National Center of Neurology and Psychiatry

Tokyo, 187-8551, Japan

Location

Saint Petersburg State Paediatric Medical University

Saint Petersburg, 194100, Russia

Location

State Autonomous Healthcare Institution of Sverdlovsk Region Children's City Clinical Hospital No 9

Yekaterinburg, 620134, Russia

Location

Pusan National University Yangsan Hospital

Yangsan, Gyeongsangnam-do, 50612, South Korea

Location

Seoul National University Hospital

Seoul, 03080, South Korea

Location

Samsung Medical Center

Seoul, 06351, South Korea

Location

Hospital Sant Joan de Déu

Esplugues de Llobregat, Barcelona, 08950, Spain

Location

Hospital Universitario Vall d'Hebron

Barcelona, 08035, Spain

Location

Hospital Universitari i Politecnic La Fe de Valencia

Valencia, 46026, Spain

Location

Inselspital, University Children's Hospital Berne

Bern, 3010, Switzerland

Location

Universitaets-Kinderspital Zuerich

Zurich, 8008, Switzerland

Location

Kaohsiung Medical University Chung-Ho Memorial Hospital

Kaohsiung City, 807, Taiwan

Location

National Taiwan University Hospital

Taipei, 100, Taiwan

Location

Taipei Veterans General Hospital

Taipei, 11217, Taiwan

Location

The Newcastle upon Tyne Hospitals NHS Foundation Trust, Royal Victoria Infirmary

Newcastle upon Tyne, England, NE1 4LP, United Kingdom

Location

Alder Hey Children's NHS Foundation Trust

Liverpool, Merseyside, L12 2AP, United Kingdom

Location

Great Ormond Street Institute of Child Health

London, WCIN 1EH, United Kingdom

Location

Related Publications (1)

• Muntoni F, Nascimento A, Shin J, Guglieri M, Stettner GM, Veerapandiyan A, Gallo S, Shi H, Gundapaneni B, Neelakantan S, Lobello K, Shen Q, Levy DI, Mercuri E; CIFFREO Study Group. Safety and efficacy of fordadistrogene movaparvovec in ambulatory participants with Duchenne muscular dystrophy (CIFFREO): a phase 3, double-blind, randomised, placebo-controlled study. Lancet Neurol. 2026 Mar;25(3):245-255. doi: 10.1016/S1474-4422(26)00036-0.

  PMID: 41722591 DERIVED

Related Links

• To obtain contact information for a study center near you, click here.

MeSH Terms

Conditions

Muscular Dystrophy, Duchenne

Condition Hierarchy (Ancestors)

Muscular Dystrophies; Muscular Disorders, Atrophic; Muscular Diseases; Musculoskeletal Diseases; Neuromuscular Diseases; Nervous System Diseases; Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Results Point of Contact

• Title: Pfizer Clinical Trials.gov Call Center
• Organization: Pfizer Inc.

ClinicalTrials.gov_Inquiries@pfizer.com

18007181021

Study Officials

• Pfizer CT.gov Call Center

  Pfizer

  STUDY DIRECTOR

Publication Agreements

• PI is Sponsor Employee: No
• Restriction Type: OTHER
• Restrictive Agreement: Yes

Study Design

• Study Type: interventional
• Phase: phase 3
• Allocation: RANDOMIZED
• Masking: QUADRUPLE
• Who Masked: PARTICIPANT, CARE PROVIDER, INVESTIGATOR, OUTCOMES ASSESSOR
• Masking Details: The study will be quadruple blind.
• Purpose: TREATMENT
• Intervention Model: PARALLEL
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Model Details: Parallel up to the measurement of the primary outcome at Week 52. At the beginning of study Year 2 participants who were originally assigned to placebo will have the opportunity to receive PF-06939926. All participants will be followed for 5 years following treatment with PF-06939926.

Study Record Dates

• First Submitted: February 11, 2020
• First Posted: February 24, 2020
• Study Start: November 5, 2020
• Primary Completion: May 15, 2024
• Study Completion (Estimated): April 15, 2039
• Last Updated: March 2, 2026
• Results First Posted: June 8, 2025

Record last verified: 2026-02

Data Sharing

• IPD Sharing: Will share

Locations

ES (3); RU (2); DE (2); KR (3); AU (3); BE (2); IT (2); FR (2); JP (3); TW (3); CH (2); GB (3); US (17); CA (4); IL (2)