Predictive Clinical-Biological Markers Over the First 3 Years of Nusinersen Treatment in SMA Type 1 Patients
Werdnig-Hoffmann disease, or type 1 Spinal Muscular Atrophy (SMA), is caused by insufficient SMN protein synthesis due to a genetic defect. Symptoms appear within the first 6 months of life, and without ventilatory support, life expectancy averages 2 years. This study aimed to monitor pNF-H neurofil...
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| Language: | English |
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Romanian Association of Balneology, Editura Balneara
2025-12-01
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| Series: | Balneo and PRM Research Journal |
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| Online Access: | http://bioclima.ro/Balneo754.pdf |
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| author | Mihaela Badina Andrada Mirea Corina Sporea Gabriel Cristian Bejan |
| author_facet | Mihaela Badina Andrada Mirea Corina Sporea Gabriel Cristian Bejan |
| author_sort | Mihaela Badina |
| collection | DOAJ |
| description | Werdnig-Hoffmann disease, or type 1 Spinal Muscular Atrophy (SMA), is caused by insufficient SMN protein synthesis due to a genetic defect. Symptoms appear within the first 6 months of life, and without ventilatory support, life expectancy averages 2 years. This study aimed to monitor pNF-H neurofilament levels in cerebrospinal fluid (CSF) and serum, serum creatinine, and motor performance during nusinersen treatment to evaluate pNF-H as a predictor of motor outcomes. Biological samples and clinical outcomes from 34 participants were analyzed at 6 months, 1 year, 2 years, and 3 years post-treatment initiation. Most patients showed favorable outcomes, with improved motor assessment scores, increased serum creatinine, and decreased pNF-H levels in CSF and serum. Higher baseline pNF-H in CSF was linked to fewer SMN2 gene copies. The largest pNF-H decrease occurred during the nusinersen loading period, stabilizing at low levels through maintenance. Smaller changes in pNF-H from baseline correlated with better motor outcomes and higher serum creatinine at 2 and 3 years. Nusinersen treatment reduced pNF-H levels, reflecting decreased neuronal degradation, increased serum creatinine due to enhanced muscle activity, and improved motor function. High baseline pNF-H in SMA type 1 may indicate a poorer prognosis for motor improvement |
| format | Article |
| id | doaj-art-cd6eee3a80f34d09a86d97b666f4a0a2 |
| institution | Kabale University |
| issn | 2734-8458 |
| language | English |
| publishDate | 2025-12-01 |
| publisher | Romanian Association of Balneology, Editura Balneara |
| record_format | Article |
| series | Balneo and PRM Research Journal |
| spelling | doaj-art-cd6eee3a80f34d09a86d97b666f4a0a22025-01-12T22:44:32ZengRomanian Association of Balneology, Editura BalnearaBalneo and PRM Research Journal2734-84582025-12-0115475410.12680/balneo.2024.754Predictive Clinical-Biological Markers Over the First 3 Years of Nusinersen Treatment in SMA Type 1 PatientsMihaela Badina0Andrada Mirea1Corina Sporea2Gabriel Cristian Bejan3National Teaching Center for Children's Neurorehabilitation “Dr. Nicolae Robanescu”, 44 Dumitru Minca Street, 041408, Bucharest, RomaniaNational Teaching Center for Children's Neurorehabilitation “Dr. Nicolae Robanescu”, 44 Dumitru Minca Street, 041408, Bucharest, Romania; University of Medicine and Pharmacy “Carol Davila”, 37 Dionisie Lupu Street, 020021, Bucharest, RomaniaNational Teaching Center for Children's Neurorehabilitation “Dr. Nicolae Robanescu”, 44 Dumitru Minca Street, 041408, Bucharest, Romania; University of Medicine and Pharmacy “Carol Davila”, 37 Dionisie Lupu Street, 020021, Bucharest, RomaniaUniversity of Medicine and Pharmacy “Carol Davila”, 37 Dionisie Lupu Street, 020021, Bucharest, RomaniaWerdnig-Hoffmann disease, or type 1 Spinal Muscular Atrophy (SMA), is caused by insufficient SMN protein synthesis due to a genetic defect. Symptoms appear within the first 6 months of life, and without ventilatory support, life expectancy averages 2 years. This study aimed to monitor pNF-H neurofilament levels in cerebrospinal fluid (CSF) and serum, serum creatinine, and motor performance during nusinersen treatment to evaluate pNF-H as a predictor of motor outcomes. Biological samples and clinical outcomes from 34 participants were analyzed at 6 months, 1 year, 2 years, and 3 years post-treatment initiation. Most patients showed favorable outcomes, with improved motor assessment scores, increased serum creatinine, and decreased pNF-H levels in CSF and serum. Higher baseline pNF-H in CSF was linked to fewer SMN2 gene copies. The largest pNF-H decrease occurred during the nusinersen loading period, stabilizing at low levels through maintenance. Smaller changes in pNF-H from baseline correlated with better motor outcomes and higher serum creatinine at 2 and 3 years. Nusinersen treatment reduced pNF-H levels, reflecting decreased neuronal degradation, increased serum creatinine due to enhanced muscle activity, and improved motor function. High baseline pNF-H in SMA type 1 may indicate a poorer prognosis for motor improvementhttp://bioclima.ro/Balneo754.pdfspinal muscular atrophyspinraza nusinersenpnf-h neurofilamentscere-brospinal fluidcreatininemotor evolutionpredictive markersneurodegenerative diseasegenetic mutation smn |
| spellingShingle | Mihaela Badina Andrada Mirea Corina Sporea Gabriel Cristian Bejan Predictive Clinical-Biological Markers Over the First 3 Years of Nusinersen Treatment in SMA Type 1 Patients Balneo and PRM Research Journal spinal muscular atrophy spinraza nusinersen pnf-h neurofilaments cere-brospinal fluid creatinine motor evolution predictive markers neurodegenerative disease genetic mutation smn |
| title | Predictive Clinical-Biological Markers Over the First 3 Years of Nusinersen Treatment in SMA Type 1 Patients |
| title_full | Predictive Clinical-Biological Markers Over the First 3 Years of Nusinersen Treatment in SMA Type 1 Patients |
| title_fullStr | Predictive Clinical-Biological Markers Over the First 3 Years of Nusinersen Treatment in SMA Type 1 Patients |
| title_full_unstemmed | Predictive Clinical-Biological Markers Over the First 3 Years of Nusinersen Treatment in SMA Type 1 Patients |
| title_short | Predictive Clinical-Biological Markers Over the First 3 Years of Nusinersen Treatment in SMA Type 1 Patients |
| title_sort | predictive clinical biological markers over the first 3 years of nusinersen treatment in sma type 1 patients |
| topic | spinal muscular atrophy spinraza nusinersen pnf-h neurofilaments cere-brospinal fluid creatinine motor evolution predictive markers neurodegenerative disease genetic mutation smn |
| url | http://bioclima.ro/Balneo754.pdf |
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