Combination Therapy with Nusinersen and Onasemnogene Abeparvovec-xioi in Spinal Muscular Atrophy Type I.

Autor: Mirea A; Faculty of Midwifery and Nursing, University of Medicine and Pharmacy 'Carol Davila', 37 Dionisie Lupu Street, 020021 Bucharest, Romania.; Scientific Research Nucleus, National University Center for Children Neurorehabilitation 'Dr. Nicolae Robanescu', 44 Dumitru Minca Street, 041408 Bucharest, Romania., Shelby ES; Scientific Research Nucleus, National University Center for Children Neurorehabilitation 'Dr. Nicolae Robanescu', 44 Dumitru Minca Street, 041408 Bucharest, Romania., Axente M; Faculty of Midwifery and Nursing, University of Medicine and Pharmacy 'Carol Davila', 37 Dionisie Lupu Street, 020021 Bucharest, Romania.; Scientific Research Nucleus, National University Center for Children Neurorehabilitation 'Dr. Nicolae Robanescu', 44 Dumitru Minca Street, 041408 Bucharest, Romania., Badina M; Faculty of Midwifery and Nursing, University of Medicine and Pharmacy 'Carol Davila', 37 Dionisie Lupu Street, 020021 Bucharest, Romania.; Scientific Research Nucleus, National University Center for Children Neurorehabilitation 'Dr. Nicolae Robanescu', 44 Dumitru Minca Street, 041408 Bucharest, Romania., Padure L; Scientific Research Nucleus, National University Center for Children Neurorehabilitation 'Dr. Nicolae Robanescu', 44 Dumitru Minca Street, 041408 Bucharest, Romania., Leanca M; Scientific Research Nucleus, National University Center for Children Neurorehabilitation 'Dr. Nicolae Robanescu', 44 Dumitru Minca Street, 041408 Bucharest, Romania., Dima V; Clinical Hospital of Obstetrics and Gynecology 'Filantropia', 11 Ion Mihalache Avenue, 011132 Bucharest, Romania., Sporea C; Faculty of Midwifery and Nursing, University of Medicine and Pharmacy 'Carol Davila', 37 Dionisie Lupu Street, 020021 Bucharest, Romania.; Scientific Research Nucleus, National University Center for Children Neurorehabilitation 'Dr. Nicolae Robanescu', 44 Dumitru Minca Street, 041408 Bucharest, Romania.
Jazyk: angličtina
Zdroj: Journal of clinical medicine [J Clin Med] 2021 Nov 26; Vol. 10 (23). Date of Electronic Publication: 2021 Nov 26.
DOI: 10.3390/jcm10235540
Abstrakt: Background: Spinal muscular atrophy (SMA) is a neuromuscular progressive disease, characterized by decreased amounts of survival motor neuron (SMN) protein, due to an autosomal recessive genetic defect. Despite recent research, there is still no cure. Nusinersen, an antisense oligonucleotide acting on the SMN2 gene, is intrathecally administered all life long, while onasemnogene abeparvovec-xioi, a gene therapy, is administered intravenously only once. Both therapies have proven efficacy, with best outcomes obtained when administered presymptomatically. In recent years, disease-modifying therapies such as nusinersen and onasemnogene abeparvovec-xioi have changed the natural history of SMA.
Methods: We observed seven SMA type I patients, who received both therapies. We compared their motor function trajectories, ventilation hours and cough assist sessions to a control group of patients who received one therapy, in order to investigate whether combination therapy may be more effective than a single intervention alone.
Results: Patients who received both therapies, compared to the monotherapy cohort, had the same motor function trajectory. Moreover, it was observed that the evolution of motor function was better in the 6 months following the first therapy than in the first 6 months after adding the second treatment.
Conclusions: Our results suggest that early treatment is more important than combined therapy.
Databáze: MEDLINE
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