Combination Therapy with Nusinersen and Onasemnogene Abeparvovec-xioi in Spinal Muscular Atrophy Type I
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...
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| Format: | Article |
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MDPI AG
2021-11-01
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| Series: | Journal of Clinical Medicine |
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| Online Access: | https://www.mdpi.com/2077-0383/10/23/5540 |
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| author | Andrada Mirea Elena-Silvia Shelby Mihaela Axente Mihaela Badina Liliana Padure Madalina Leanca Vlad Dima Corina Sporea |
| author_facet | Andrada Mirea Elena-Silvia Shelby Mihaela Axente Mihaela Badina Liliana Padure Madalina Leanca Vlad Dima Corina Sporea |
| author_sort | Andrada Mirea |
| collection | DOAJ |
| description | 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 <i>SMN2</i> 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. |
| first_indexed | 2024-03-10T04:51:39Z |
| format | Article |
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| institution | Directory Open Access Journal |
| issn | 2077-0383 |
| language | English |
| last_indexed | 2024-03-10T04:51:39Z |
| publishDate | 2021-11-01 |
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| record_format | Article |
| series | Journal of Clinical Medicine |
| spelling | doaj.art-c0dbd93e4bf943b18ce583d6c6a8ad9e2023-11-23T02:35:35ZengMDPI AGJournal of Clinical Medicine2077-03832021-11-011023554010.3390/jcm10235540Combination Therapy with Nusinersen and Onasemnogene Abeparvovec-xioi in Spinal Muscular Atrophy Type IAndrada Mirea0Elena-Silvia Shelby1Mihaela Axente2Mihaela Badina3Liliana Padure4Madalina Leanca5Vlad Dima6Corina Sporea7Faculty of Midwifery and Nursing, University of Medicine and Pharmacy “Carol Davila”, 37 Dionisie Lupu Street, 020021 Bucharest, RomaniaScientific Research Nucleus, National University Center for Children Neurorehabilitation “Dr. Nicolae Robanescu”, 44 Dumitru Minca Street, 041408 Bucharest, RomaniaFaculty of Midwifery and Nursing, University of Medicine and Pharmacy “Carol Davila”, 37 Dionisie Lupu Street, 020021 Bucharest, RomaniaFaculty of Midwifery and Nursing, University of Medicine and Pharmacy “Carol Davila”, 37 Dionisie Lupu Street, 020021 Bucharest, RomaniaScientific Research Nucleus, National University Center for Children Neurorehabilitation “Dr. Nicolae Robanescu”, 44 Dumitru Minca Street, 041408 Bucharest, RomaniaScientific Research Nucleus, National University Center for Children Neurorehabilitation “Dr. Nicolae Robanescu”, 44 Dumitru Minca Street, 041408 Bucharest, RomaniaClinical Hospital of Obstetrics and Gynecology “Filantropia”, 11 Ion Mihalache Avenue, 011132 Bucharest, RomaniaFaculty of Midwifery and Nursing, University of Medicine and Pharmacy “Carol Davila”, 37 Dionisie Lupu Street, 020021 Bucharest, RomaniaBackground: 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 <i>SMN2</i> 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.https://www.mdpi.com/2077-0383/10/23/5540spinal muscular atrophycombined modifying therapynusinersenonasemnogene abeparvovec-xioiearly treatmentmotor evolution |
| spellingShingle | Andrada Mirea Elena-Silvia Shelby Mihaela Axente Mihaela Badina Liliana Padure Madalina Leanca Vlad Dima Corina Sporea Combination Therapy with Nusinersen and Onasemnogene Abeparvovec-xioi in Spinal Muscular Atrophy Type I Journal of Clinical Medicine spinal muscular atrophy combined modifying therapy nusinersen onasemnogene abeparvovec-xioi early treatment motor evolution |
| title | Combination Therapy with Nusinersen and Onasemnogene Abeparvovec-xioi in Spinal Muscular Atrophy Type I |
| title_full | Combination Therapy with Nusinersen and Onasemnogene Abeparvovec-xioi in Spinal Muscular Atrophy Type I |
| title_fullStr | Combination Therapy with Nusinersen and Onasemnogene Abeparvovec-xioi in Spinal Muscular Atrophy Type I |
| title_full_unstemmed | Combination Therapy with Nusinersen and Onasemnogene Abeparvovec-xioi in Spinal Muscular Atrophy Type I |
| title_short | Combination Therapy with Nusinersen and Onasemnogene Abeparvovec-xioi in Spinal Muscular Atrophy Type I |
| title_sort | combination therapy with nusinersen and onasemnogene abeparvovec xioi in spinal muscular atrophy type i |
| topic | spinal muscular atrophy combined modifying therapy nusinersen onasemnogene abeparvovec-xioi early treatment motor evolution |
| url | https://www.mdpi.com/2077-0383/10/23/5540 |
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