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

Sponsor: Pfizer

Sommario: 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.

TIPOLOGIA STUDIO

Interventistico

FASE

Fase 3

TRATTAMENTO

• PF-06939926
• Placebo
• Placebo
• PF-06939926

OBIETTIVO PRIMARIO

• Misura: Change from Baseline in North Star Ambulatory Assessment (NSAA)
• Tempo: Week 52
• Descrizione: The NSAA is a 17-item test that measures gross motor function in children with Duchenne.

OBIETTIVO SECONDARIO

• Misura: Change from Baseline in mini-dystrophin expression level in muscle
• Tempo: Week 52
• Descrizione: Mini-dystrophin expression level from a muscle biopsy will be assessed by liquid chromatography mass spectrometry (LC-MS).

• Misura: Change from Baseline in distribution of mini-dystrophin expression in the muscle
• Tempo: Week 52
• Descrizione: Mini-dystrophin distribution from a muscle biopsy will be assessed by immunofluorescence.

• Misura: Change from Baseline in serum creatine kinase (CK)
• Tempo: Week 52
• Descrizione: Changes in the circulating levels of CK.

• Misura: Number of skills gained based on the individual items of the NSAA.
• Tempo: Week 52
• Descrizione: To count the skills that each child gained, based on the individual items of the NSAA.

• Misura: Number of skills improved or maintained based on the individual items of the NSAA
• Tempo: Week 52
• Descrizione: To count the skills that each child improved or maintained, based on the individual items of the NSAA.

• Misura: Change from Baseline in the 10-meter run/walk test velocity
• Tempo: Week 52
• Descrizione: Velocity is calculated based on the time that it takes to complete the 10-meter run/walk test.

• Misura: Change from Baseline in the rise from floor velocity
• Tempo: Week 52
• Descrizione: Velocity is calculated based on the time that it takes to the rise from floor.

• Misura: Change from Baseline in the Modified Pediatric Outcomes Data Collection Instrument (PODCI): Transfer and Basic Mobility Core Scale
• Tempo: Week 52
• Descrizione: The PODCI contains a list of questions to assess how each caregiver/child evaluates the child´s ability to to walk, stand, and perform activities of daily living.

• Misura: Change from Baseline in the Modified Pediatric Outcomes Data Collection Instrucment (PODCI): Sports and Physical Functioning Core Scale
• Tempo: Week 52
• Descrizione: The PODCI contains a list of questions to assess how each caregiver/child evaluates the child´s ability to perform recreational activities.

CRITERI DI ELIGIBILITA'

• Criteri di inclusione e esclusione

  Key inclusion criteria: 1. Confirmed diagnosis of Duchenne muscular dystrophy by prior genetic testing 2. 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 3. Ambulatory, as assessed by protocol-specified criteria Key exclusion criteria: 1. Positive test performed by Pfizer for neutralizing antibodies to AAV9 2. Any treatment designed to increase dystrophin expression within 6 months prior to screening (e.g., Translarna™, EXONDYS 51™, VYONDYS 53™) 3. Any prior treatment with gene therapy 4. Any non-healed injury that may impact functional testing (eg NSAA) 5. Abnormality in specified laboratory tests, including blood counts, liver and kidney function 6. Any of the following genetic abnormalities in the dystrophin gene: 1. Any mutation (exon deletion, exon duplication, insertion, or point mutation) affecting any exon between exon 9 and exon 13, inclusive; OR 2. A deletion that affects both exon 29 and exon 30;OR 3. A deletion that affects any exons between 56-71, inclusive.

SESSO

Maschi

ETA' MINIMA

Età Minima: 4 Years
Età Massima: 7 Years

LUOGO

Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Roma, 00168

IRCCS Ospedale Pediatrico Bambino Gesù
Rome, 00165