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

Autor:	Mihaela Badina, Madalina Cristina Leanca, Liliana Padure, Mihaela Axente, Vlad Dima, Elena-Silvia Shelby, Corina Sporea, Andrada Mirea
Rok vydání:	2021
Předmět:	medicine.medical_specialty onasemnogene abeparvovec-xioi Combination therapy early treatment Article Internal medicine medicine spinal muscular atrophy business.industry motor evolution nusinersen General Medicine Spinal muscular atrophy Motor neuron medicine.disease SMA combined modifying therapy ventilation improvement medicine.anatomical_structure Cohort Breathing Medicine Nusinersen business Progressive disease
Zdroj:	Journal of Clinical Medicine; Volume 10; Issue 23; Pages: 5540 Journal of Clinical Medicine Journal of Clinical Medicine, Vol 10, Iss 5540, p 5540 (2021)
ISSN:	2077-0383
DOI:	10.3390/jcm10235540
Popis:	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:	OpenAIRE
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