Outcomes for patients in the RESTORE registry with spinal muscular atrophy and four or more SMN2 gene copies treated with onasemnogene abeparvovec
Copyright policy )Outcomes for patients in the RESTORE registry with spinal muscular atrophy and four or more SMN2 gene copies treated with onasemnogene abeparvovec
We describe outcomes following onasemnogene abeparvovec monotherapy for patients with ≥four survival motor neuron 2 (SMN2) gene copies in RESTORE, a noninterventional spinal muscular atrophy patient registry.We evaluated baseline characteristics, motor milestone achievement, post-treatment motor function, use of ventilatory/nutritional support, and adverse events as of December 22, 2022.At data cutoff, 19 patients in RESTORE had ≥four SMN2 copies and were treated with onasemnogene abeparvovec monotherapy (n=12 [63.2%] four copies; n=7 [36.8%] >four copies). All patients were identified by newborn screening and were reported as asymptomatic at diagnosis. Median age at onasemnogene abeparvovec administration was 3.0 months. Median time from treatment to last recorded visit was 15.4 months, with a range of post-treatment follow-up of 0.03-39.4 months. All 12 children who were assessed for motor development achieved new milestones, including standing alone (n=2) and walking alone (n=5). Five children reported one or more treatment-emergent adverse events (one Grade 3 or greater). No deaths or use of ventilatory/nutritional support were reported.Real-world findings from the RESTORE registry indicate that patients with ≥four SMN2 gene copies treated with onasemnogene abeparvovec monotherapy demonstrated improvements in motor function. Adverse events experienced by these patients were consistent with previously reported findings.
- University of Oxford United Kingdom
- Tel Aviv University Israel
- Université de Versailles Saint-Quentin-en-Yvelines France
- Schneider Children's Medical Center Israel
- Versailles Saint-Quentin-en-Yvelines University France
Biological Products/adverse effects, Male, Survival of Motor Neuron 2 Protein/genetics, Otros calificadores::Otros calificadores::Otros calificadores::/farmacoterapia, [SDV]Life Sciences [q-bio], Pédiatrie, Recombinant Fusion Proteins, Gene Dosage, 610, Zolgensma, Atròfia muscular espinal - Teràpia genètica, Pediatrics, Sciences de la santé humaine, Muscular Atrophy, Spinal, SMN2 protein, human, ENFERMEDADES::enfermedades del sistema nervioso::enfermedades del sistema nervioso central::enfermedades de la médula espinal::atrofia muscular espinal, Onasemnogene abeparvovec, Humans, RESTORE registry, Registries, Human health sciences, TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::terapéutica::terapia biológica::terapia genética, DENOMINACIONES DE GRUPOS::personas::Grupos de Edad::lactante, Biological Products, ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Therapeutics::Biological Therapy::Genetic Therapy, Other subheadings::Other subheadings::Other subheadings::/drug therapy, ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Diagnosis::Prognosis::Treatment Outcome, Infant, Newborn, Muscular Atrophy, Spinal/drug therapy, NAMED GROUPS::Persons::Age Groups::Infant, Infant, Spinal muscular atrophy, four SMN2 gene copies, Real-world data, Survival motor neuron 2 gene, Survival of Motor Neuron 2 Protein, TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::diagnóstico::pronóstico::resultado del tratamiento, Treatment Outcome, Atròfia muscular espinal - Immunoteràpia, Child, Preschool, Pediatrics, Perinatology and Child Health, Avaluació de resultats (Assistència sanitària), Female, Neurology (clinical), Biological Products/therapeutic use, Infants, DISEASES::Nervous System Diseases::Central Nervous System Diseases::Spinal Cord Diseases::Muscular Atrophy, Spinal, Muscular Atrophy, Spinal/genetics
Biological Products/adverse effects, Male, Survival of Motor Neuron 2 Protein/genetics, Otros calificadores::Otros calificadores::Otros calificadores::/farmacoterapia, [SDV]Life Sciences [q-bio], Pédiatrie, Recombinant Fusion Proteins, Gene Dosage, 610, Zolgensma, Atròfia muscular espinal - Teràpia genètica, Pediatrics, Sciences de la santé humaine, Muscular Atrophy, Spinal, SMN2 protein, human, ENFERMEDADES::enfermedades del sistema nervioso::enfermedades del sistema nervioso central::enfermedades de la médula espinal::atrofia muscular espinal, Onasemnogene abeparvovec, Humans, RESTORE registry, Registries, Human health sciences, TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::terapéutica::terapia biológica::terapia genética, DENOMINACIONES DE GRUPOS::personas::Grupos de Edad::lactante, Biological Products, ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Therapeutics::Biological Therapy::Genetic Therapy, Other subheadings::Other subheadings::Other subheadings::/drug therapy, ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Diagnosis::Prognosis::Treatment Outcome, Infant, Newborn, Muscular Atrophy, Spinal/drug therapy, NAMED GROUPS::Persons::Age Groups::Infant, Infant, Spinal muscular atrophy, four SMN2 gene copies, Real-world data, Survival motor neuron 2 gene, Survival of Motor Neuron 2 Protein, TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::diagnóstico::pronóstico::resultado del tratamiento, Treatment Outcome, Atròfia muscular espinal - Immunoteràpia, Child, Preschool, Pediatrics, Perinatology and Child Health, Avaluació de resultats (Assistència sanitària), Female, Neurology (clinical), Biological Products/therapeutic use, Infants, DISEASES::Nervous System Diseases::Central Nervous System Diseases::Spinal Cord Diseases::Muscular Atrophy, Spinal, Muscular Atrophy, Spinal/genetics
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