Efficacy of Nusinersen Treatment in Type 1, 2, and 3 Spinal Muscular Atrophy: Real-World Data from a Single-Center Study
Background: Spinal muscular atrophy (SMA) is an inherited neuromuscular disease characterized by progressive muscle weakness and atrophy due to the absence of the survival motor neuron 1 (<i>SMN1</i>) gene. SMA is classified into types 0 through 4 based on the age of symptom onset and th...
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2024-10-01
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| author | Anna Lemska Piotr Ruminski Jakub Szymarek Sylwia Studzinska Maria Mazurkiewicz-Beldzinska |
| author_facet | Anna Lemska Piotr Ruminski Jakub Szymarek Sylwia Studzinska Maria Mazurkiewicz-Beldzinska |
| author_sort | Anna Lemska |
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| description | Background: Spinal muscular atrophy (SMA) is an inherited neuromuscular disease characterized by progressive muscle weakness and atrophy due to the absence of the survival motor neuron 1 (<i>SMN1</i>) gene. SMA is classified into types 0 through 4 based on the age of symptom onset and the severity of motor function decline. Recent advances in SMA treatment, including nusinersen, onasemnogene abeparvovec, and risdiplam, have significantly improved the prognosis of SMA patients. This study evaluated the safety and efficacy of nusinersen in pediatric patients with SMA types 1, 2, and 3 in a real-world clinical setting. Methods: This prospective observational single-center study assessed the treatment effects of nusinersen in 23 pediatric patients with genetically confirmed SMA over a 22-month observation period. All the participants received intrathecal loading doses of 12 mg of nusinersen on days 1, 14, 28, and 63, followed by maintenance doses every four months. Functional assessments were conducted using the CHOP-INTEND scale. Data were collected during routine patient visits, including clinical laboratory tests and vital sign parameters, and adverse events were recorded. The inclusion criteria were defined by the national reimbursement program for nusinersen treatment in Poland. Results: Initially, 37 patients ranging from 1 month old to 18 years old were included, but 23 were ultimately observed due to changes in treatment regimens or assessment scales. The patients showed significantly improved CHOP-INTEND scores over the 22-month period. At 6 months, the average increase was 4.2 points, continuing to 17.8 points at 22 months. By the end of the study, 100% of patients showed either stabilization or improvement, with significant clinical improvements observed in several patients. Nusinersen was generally well-tolerated, with post-lumbar puncture headache and lower back pain being the most common adverse events. Conclusions: Nusinersen treatment significantly enhances motor function in pediatric patients with SMA types 1, 2, and 3. This study demonstrates the importance of early and sustained treatment, with most patients showing the continuous improvement or stabilization of motor function. These findings support the use of nusinersen as an effective therapy for SMA; however, further research is needed to understand the long-term outcomes and optimize treatment strategies. |
| format | Article |
| id | doaj-art-2f8c2f6be7884da68a7810119e992b31 |
| institution | Kabale University |
| issn | 2035-8377 |
| language | English |
| publishDate | 2024-10-01 |
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| spelling | doaj-art-2f8c2f6be7884da68a7810119e992b312024-12-27T14:43:47ZengMDPI AGNeurology International2035-83772024-10-011661266127810.3390/neurolint16060096Efficacy of Nusinersen Treatment in Type 1, 2, and 3 Spinal Muscular Atrophy: Real-World Data from a Single-Center StudyAnna Lemska0Piotr Ruminski1Jakub Szymarek2Sylwia Studzinska3Maria Mazurkiewicz-Beldzinska4Department of Developmental Neurology, Medical University of Gdansk, 80-952 Gdansk, PolandDepartment of Developmental Neurology, Medical University of Gdansk, 80-952 Gdansk, PolandDepartment of Developmental Neurology, Medical University of Gdansk, 80-952 Gdansk, PolandFaculty of Chemistry, Nicolaus Copernicus University, 87-100 Torun, PolandDepartment of Developmental Neurology, Medical University of Gdansk, 80-952 Gdansk, PolandBackground: Spinal muscular atrophy (SMA) is an inherited neuromuscular disease characterized by progressive muscle weakness and atrophy due to the absence of the survival motor neuron 1 (<i>SMN1</i>) gene. SMA is classified into types 0 through 4 based on the age of symptom onset and the severity of motor function decline. Recent advances in SMA treatment, including nusinersen, onasemnogene abeparvovec, and risdiplam, have significantly improved the prognosis of SMA patients. This study evaluated the safety and efficacy of nusinersen in pediatric patients with SMA types 1, 2, and 3 in a real-world clinical setting. Methods: This prospective observational single-center study assessed the treatment effects of nusinersen in 23 pediatric patients with genetically confirmed SMA over a 22-month observation period. All the participants received intrathecal loading doses of 12 mg of nusinersen on days 1, 14, 28, and 63, followed by maintenance doses every four months. Functional assessments were conducted using the CHOP-INTEND scale. Data were collected during routine patient visits, including clinical laboratory tests and vital sign parameters, and adverse events were recorded. The inclusion criteria were defined by the national reimbursement program for nusinersen treatment in Poland. Results: Initially, 37 patients ranging from 1 month old to 18 years old were included, but 23 were ultimately observed due to changes in treatment regimens or assessment scales. The patients showed significantly improved CHOP-INTEND scores over the 22-month period. At 6 months, the average increase was 4.2 points, continuing to 17.8 points at 22 months. By the end of the study, 100% of patients showed either stabilization or improvement, with significant clinical improvements observed in several patients. Nusinersen was generally well-tolerated, with post-lumbar puncture headache and lower back pain being the most common adverse events. Conclusions: Nusinersen treatment significantly enhances motor function in pediatric patients with SMA types 1, 2, and 3. This study demonstrates the importance of early and sustained treatment, with most patients showing the continuous improvement or stabilization of motor function. These findings support the use of nusinersen as an effective therapy for SMA; however, further research is needed to understand the long-term outcomes and optimize treatment strategies.https://www.mdpi.com/2035-8377/16/6/96spinal muscular atrophynusinersenmotor functionreal-world data |
| spellingShingle | Anna Lemska Piotr Ruminski Jakub Szymarek Sylwia Studzinska Maria Mazurkiewicz-Beldzinska Efficacy of Nusinersen Treatment in Type 1, 2, and 3 Spinal Muscular Atrophy: Real-World Data from a Single-Center Study Neurology International spinal muscular atrophy nusinersen motor function real-world data |
| title | Efficacy of Nusinersen Treatment in Type 1, 2, and 3 Spinal Muscular Atrophy: Real-World Data from a Single-Center Study |
| title_full | Efficacy of Nusinersen Treatment in Type 1, 2, and 3 Spinal Muscular Atrophy: Real-World Data from a Single-Center Study |
| title_fullStr | Efficacy of Nusinersen Treatment in Type 1, 2, and 3 Spinal Muscular Atrophy: Real-World Data from a Single-Center Study |
| title_full_unstemmed | Efficacy of Nusinersen Treatment in Type 1, 2, and 3 Spinal Muscular Atrophy: Real-World Data from a Single-Center Study |
| title_short | Efficacy of Nusinersen Treatment in Type 1, 2, and 3 Spinal Muscular Atrophy: Real-World Data from a Single-Center Study |
| title_sort | efficacy of nusinersen treatment in type 1 2 and 3 spinal muscular atrophy real world data from a single center study |
| topic | spinal muscular atrophy nusinersen motor function real-world data |
| url | https://www.mdpi.com/2035-8377/16/6/96 |
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