Study of Fordadistrogene Movaparvovec in Early Stage Duchenne Muscular Dystrophy

Phase 2TerminatedNCT05429372

Pfizer10 enrolled

Overview

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

The study will assess the safety and tolerability of fordadistrogene movaparvovec gene therapy. Approximately 10 participants will be enrolled in the study and receive a single IV infusion of PF-06939926; there is no placebo arm. The study includes boys who are at least 2 years old and less than 4 years old (including 3 year olds up until their 4th birthday). All boys will need to be negative for neutralizing antibodies against AAV9, as measured by the test done for the study as part of screening. The primary analysis will occur when all participants have completed visits through Week 52 (or withdrawn from the study prior to Week 52). All participants will be followed in the study for 5 years after treatment with gene therapy.

Study Type

INTERVENTIONAL

Allocation

Purpose

TREATMENT

Masking

NONE

Enrollment

Conditions

Muscular Dystrophy, Duchenne

Interventions

PF-06939926GENETIC

All participants will receive a single dose of PF-06939926 on Day 1.

Eligibility

Sex: MALEMin age: 2 YearsMax age: 3 Years

Medical Language ↔ Plain English

Inclusion Criteria: * Confirmed diagnosis of DMD by prior genetic testing. Exclusion Criteria: * Any of the following genetic abnormalities in the dystrophin gene: a. Any mutation (exon deletion, exon duplication, insertion, or point mutation) affecting any exon between exon 9 and exon 13, inclusive; OR b. A deletion that affects both exon 29 and exon 30; OR c. A deletion that affects any exons between 56-71, inclusive. * Positive test performed by Pfizer for neutralizing antibodies to AAV9. * Any prior treatment with gene therapy. * Any treatment designed to increase dystrophin expression within 6 months prior to screening (including, but not limited to, exon-skipping and nonsense read through). * Previous or current treatment with oral glucocorticoids or other immunosuppressive agents for the indication of DMD. * Abnormality in specified laboratory tests, including blood counts, liver and kidney function.

Locations (13)

UF Health Shands Hospital

Gainesville, Florida, United States

University of Florida

Gainesville, Florida, United States

The Children's Hospital of Philadelphia

Outcomes

Primary Outcomes

Incidence and severity of Treatment-Emergent Adverse Events and Serious Adverse Events

Time frame: Through Week 52

Number of participants with abnormal hematology test results

Blood samples will be collected from subjects for the analysis of hematology

Time frame: Through Week 52

Number of participants with abnormal biochemistry test results

Blood samples will be collected from subjects for the analysis of biochemistry

Time frame: Through Week 52

Number of participants with abnormal urine analysis

Urine samples will be collected from subjects for the analysis of urine

Time frame: Through Week 52

Number of participants with abnormal and clinically relevant changes in neurological examinations

Time frame: Through Week 52

Number of participants with abnormal and clinically relevant changes in body weight

Time frame: Through Week 52

Number of participants with abnormal and clinically relevant changes in vital signs

Time frame: Through Week 52

Number of participants with abnormal and clinically relevant changes on cardiac troponin I

Time frame: Through Week 52

Number of participants with abnormal and clinically relevant changes on electrocardiogram (ECG)

Time frame: Through Week 52

Number of participants with abnormal and clinically relevant changes on echocardiogram

Data from ClinicalTrials.gov

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Secondary Outcomes

Distribution of mini-dystrophin expression in muscle

Mini-dystrophin distribution from a muscle biopsy will be assessed by immunofluorescence

Time frame: At Week 9, Week 52 and Year 5 (if available)

Level of mini-dystrophin expression in muscle

Mini-dystrophin expression level from a muscle biopsy will be assessed by liquid chromatography mass spectrometry

Time frame: At Week 9, Week 52 and Year 5 (if available)

Incidence and severity of Treatment-Emergent Adverse Events and Serious Adverse Events

Time frame: Through 5 years

Number of participants with abnormal hematology test results

Blood samples will be collected from subjects for the analysis of hematology

Time frame: Through 5 years

Number of participants with abnormal biochemistry test results

Blood samples will be collected from subjects for the analysis of biochemistry

Time frame: Through 5 years

Number of participants with abnormal urine analysis

Urine samples will be collected from subjects for the analysis of urine

Time frame: Through 5 years

Number of participants with abnormal and clinically relevant changes in neurological examinations

Time frame: Through 5 years

Number of participants with abnormal and clinically relevant changes in body weight

Time frame: Through 5 years

Number of participants with abnormal and clinically relevant changes in vital signs

Time frame: Through 5 years

Number of participants with abnormal and clinically relevant changes on cardiac troponin I

Time frame: Through 5 years

Number of participants with abnormal and clinically relevant changes on electrocardiogram (ECG)

Time frame: Through 5 years

Number of participants with abnormal and clinically relevant changes on echocardiogram

Time frame: Through 5 years