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A Study to Evaluate the Safety and Tolerability of PF-06939926 Gene Therapy in Duchenne Muscular Dystrophy

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT03362502
Recruitment Status : Enrolling by invitation
First Posted : December 5, 2017
Last Update Posted : July 20, 2020
Information provided by (Responsible Party):

Brief Summary:

This is a first-in-human/first-in-patient, multi-center, open-label, non-randomized, ascending dose, safety and tolerability study of a single intravenous infusion of PF-06939926 in ambulatory subjects with Duchenne muscular dystrophy (DMD). Other objectives include measurement of dystrophin expression and distribution, and assessments of muscle strength, quality, and function.

Two dose cohorts are planned with up to 6 subjects for each. In order to mitigate unanticipated risks to subject safety, enrollment will be staggered within and between the two cohorts and will include a formal review by an external data monitoring committee (E-DMC) prior to dose progression.

Condition or disease Intervention/treatment Phase
Duchenne Muscular Dystrophy Genetic: PF-06939926 Phase 1

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Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 15 participants
Allocation: Non-Randomized
Intervention Model: Sequential Assignment
Masking: None (Open Label)
Primary Purpose: Treatment
Actual Study Start Date : January 23, 2018
Estimated Primary Completion Date : August 26, 2021
Estimated Study Completion Date : August 26, 2025

Arm Intervention/treatment
Experimental: PF-06939926 Genetic: PF-06939926

Recombinant adeno-associated virus, serotype 9 (AAV9) carrying a truncated human dystrophin gene (mini-dystrophin) under the control of a human muscle specific promoter.

Subjects will receive a single intravenous infusion of one of 2 dose levels.

Primary Outcome Measures :
  1. Incidence of dose-limiting safety or intolerability, as measured by treatment-related adverse events [ Time Frame: through 1 year post-treatment ]

Secondary Outcome Measures :
  1. Evidence of mini-dystrophin expression and distribution assessed by immunohistochemistry, western blot, and/or LC-MS using upper limb muscle biopsies [ Time Frame: at baseline, 2 months and 1 year post-treatment ]
  2. Incidence, severity and causal relationship of treatment-emergent adverse events [ Time Frame: through 5 years post-treatment ]
  3. Incidence and magnitude of abnormal laboratory findings [ Time Frame: through 5 years post-treatment ]
  4. Incidence and severity of abnormal and clinical relevant changes in physical and neurological examinations [ Time Frame: through 5 years post-treatment ]
  5. Incidence and severity of abnormal and clinical relevant changes in body weight [ Time Frame: through 5 years post-treatment ]
  6. Incidence and severity of abnormal and clinical relevant changes in vital signs [ Time Frame: through 5 years post-treatment ]
  7. Incidence and severity of abnormal and clinical relevant changes on electrocardiogram (ECG) [ Time Frame: through 5 years post-treatment ]
  8. Incidence and severity of abnormal and clinical relevant changes in body weight and vital signs [ Time Frame: through 5 years post-treatment ]
  9. Incidence and severity of abnormal and clinical relevant changes in cardiac MRI-measured left ventricular ejection fraction (LVEF) [ Time Frame: through 5 years post-treatment ]
  10. Incidence and severity of abnormal and clinical relevant changes in Columbia Suicide Severity Rating Scale (C-SSRS) [ Time Frame: through 5 years post-treatment ]

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   4 Years to 12 Years   (Child)
Sexes Eligible for Study:   Male
Gender Based Eligibility:   Yes
Accepts Healthy Volunteers:   No

Inclusion Criteria:

  • Diagnosis of Duchenne muscular dystrophy confirmed by medical history and genetic testing
  • Body weight between 15 and 50 kg
  • Receipt of glucocorticoids for 6 months and a stable daily dose for at least 3 months prior to study entry
  • Ability to rise from floor within seven (7) seconds and ability to walk
  • Ability to tolerate magnetic resonance imaging (MRI) without sedation and with no contraindications to these procedures
  • Ability to tolerate muscle biopsies under anesthesia with no contraindications to these procedures

Exclusion Criteria:

  • Receipt of live attenuated vaccination within 3 months prior or exposure to a systemic antiviral and/or interferon therapy within 30 days prior to receipt of PF-06939926
  • Prior exposure to any gene therapy agent, including exon-skipping and missense agents
  • Exposure to other investigational drugs within 30 days or 5 half-lives, whichever is longer
  • Neutralizing antibodies (NAb) against adeno-associated virus, serotype 9 (AAV9) or pre-existing anti-dystrophin T-cell response
  • Compromised cardiac function as indicated by a left ventricular ejection fraction of less than 55% on cardiac MRI
  • Inadequate hepatic or renal function or risk factors for autoimmune disease on screening laboratory assessments.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT03362502

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Sponsors and Collaborators
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Study Director: Pfizer Call Center Pfizer
Additional Information:
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Responsible Party: Pfizer Identifier: NCT03362502    
Other Study ID Numbers: C3391001
First Posted: December 5, 2017    Key Record Dates
Last Update Posted: July 20, 2020
Last Verified: July 2020
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No
Plan Description: Pfizer will provide access to individual de-identified participant data and related study documents (e.g. protocol, Statistical Analysis Plan (SAP), Clinical Study Report (CSR)) upon request from qualified researchers, and subject to certain criteria, conditions, and exceptions. Further details on Pfizer's data sharing criteria and process for requesting access can be found at:

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Studies a U.S. FDA-regulated Drug Product: Yes
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Pfizer:
gene therapy, mini-dystrophin, AAV
Additional relevant MeSH terms:
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Muscular Dystrophies
Muscular Dystrophy, Duchenne
Muscular Disorders, Atrophic
Muscular Diseases
Musculoskeletal Diseases
Neuromuscular Diseases
Nervous System Diseases
Genetic Diseases, Inborn
Genetic Diseases, X-Linked