학술논문
Early treatment of type II SMA slows rate of progression of scoliosis.
Document Type
Academic Journal
Author
Coratti G; Pediatric Neurology, Università Cattolica del Sacro Cuore, Roma, Italy.; Centro Clinico Nemo Pediatrico, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Roma, Italy.; Lenkowicz J; Gemelli Generator, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.; Pera MC; Pediatric Neurology, Università Cattolica del Sacro Cuore, Roma, Italy.; Centro Clinico Nemo Pediatrico, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Roma, Italy.; D'Amico A; Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital IRCCS, Roma, Italy.; Bruno C; Center of Translational and Experimental Myology, and Dept. of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, IRCCS Istituto Giannina Gaslini, Genova, Italy.; Gullì C; Department of Radiological and Hematological Sciences, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Roma, Italy.; Brolatti N; Center of Translational and Experimental Myology, and Dept. of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, IRCCS Istituto Giannina Gaslini, Genova, Italy.; Pedemonte M; Center of Translational and Experimental Myology, and Dept. of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, IRCCS Istituto Giannina Gaslini, Genova, Italy.; Antonaci L; Centro Clinico Nemo Pediatrico, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Roma, Italy.; Ricci M; Pediatric Neurology, Università Cattolica del Sacro Cuore, Roma, Italy.; Centro Clinico Nemo Pediatrico, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Roma, Italy.; Capasso A; Pediatric Neurology, Università Cattolica del Sacro Cuore, Roma, Italy.; Centro Clinico Nemo Pediatrico, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Roma, Italy.; Cicala G; Pediatric Neurology, Università Cattolica del Sacro Cuore, Roma, Italy.; Centro Clinico Nemo Pediatrico, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Roma, Italy.; Cutrona C; Pediatric Neurology, Università Cattolica del Sacro Cuore, Roma, Italy.; de Sanctis R; Centro Clinico Nemo Pediatrico, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Roma, Italy.; Carnicella S; Centro Clinico Nemo Pediatrico, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Roma, Italy.; Forcina N; Centro Clinico Nemo Pediatrico, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Roma, Italy.; Cateruccia M; Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital IRCCS, Roma, Italy.; Damasio MB; Department of Radiology, IRCCS Istituto Giannina Gaslini, Genova, Italy.; Labianca L; Department of Trauma and Orthopaedics, University of Rome La Sapienza, Rome, Italy.; Manfroni F; Division of traumatology, spine surgery unit, Department of surgery and transplant, Bambino Gesù Children's Hospital IRCCS, Roma, Italy.; Leone A; Department of Radiological and Hematological Sciences, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Roma, Italy.; Bertini E; Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital IRCCS, Roma, Italy.; Pane M; Pediatric Neurology, Università Cattolica del Sacro Cuore, Roma, Italy.; Patarnello S; Centro Clinico Nemo Pediatrico, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Roma, Italy.; Valentini V; Department of Bioimaging Radiation Oncology and Hematology, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Università Cattolica S. Cuore, Roma, Italy.; Mercuri E; Pediatric Neurology, Università Cattolica del Sacro Cuore, Roma, Italy eugeniomaria.mercuri@unicatt.it.; Centro Clinico Nemo Pediatrico, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Roma, Italy.
Source
Publisher: BMJ Publishing Group Country of Publication: England NLM ID: 2985191R Publication Model: Electronic Cited Medium: Internet ISSN: 1468-330X (Electronic) Linking ISSN: 00223050 NLM ISO Abbreviation: J Neurol Neurosurg Psychiatry Subsets: MEDLINE
Subject
Language
English
Abstract
Background: Type II spinal muscular atrophy (SMA) often leads to scoliosis in up to 90% of cases. While pharmacological treatments have shown improvements in motor function, their impact on scoliosis progression remains unclear. This study aims to evaluate potential differences in scoliosis progression between treated and untreated SMA II patients.
Methods: Treatment effect on Cobb's angle annual changes and on reaching a 50° Cobb angle was analysed in treated and untreated type II SMA patients with a minimum 1.5-year follow-up. A sliding cut-off approach identified the optimal treatment subpopulation based on age, Cobb angle and Hammersmith Functional Motor Scale Expanded at the initial visit. Mann-Whitney U-test assessed statistical significance.
Results: There were no significant differences in baseline characteristics between the untreated (n=46) and treated (n=39) populations. The mean Cobb angle variation did not significantly differ between the two groups (p=0.4). Optimal cut-off values for a better outcome were found to be having a Cobb angle <26° or an age <4.5 years. When using optimal cut-off, the treated group showed a lower mean Cobb variation compared with the untreated group (5.61 (SD 4.72) degrees/year vs 10.05 (SD 6.38) degrees/year; p=0.01). Cox-regression analysis indicated a protective treatment effect in reaching a 50° Cobb angle, significant in patients <4.5 years old (p=0.016).
Conclusion: This study highlights that pharmacological treatment, if initiated early, may slow down the progression of scoliosis in type II SMA patients. Larger studies are warranted to further investigate the effectiveness of individual pharmacological treatment on scoliosis progression in this patient population.
Competing Interests: Competing interests: GC, MCP, AD'A, MP, RdS, MC, EB, MP and EM have been a consultant for BIOGEN S.R.L. which owns patent rights to nusinersen of which data from patients in treatment were used in this study. GC, MCP, AD'A, MP, RdS, MC, EB, MP and EM have been a consultant for ROCHE which owns patent rights to risdiplam of which data from patients in treatment were used in this study.
(© Author(s) (or their employer(s)) 2024. No commercial re-use. See rights and permissions. Published by BMJ.)
Methods: Treatment effect on Cobb's angle annual changes and on reaching a 50° Cobb angle was analysed in treated and untreated type II SMA patients with a minimum 1.5-year follow-up. A sliding cut-off approach identified the optimal treatment subpopulation based on age, Cobb angle and Hammersmith Functional Motor Scale Expanded at the initial visit. Mann-Whitney U-test assessed statistical significance.
Results: There were no significant differences in baseline characteristics between the untreated (n=46) and treated (n=39) populations. The mean Cobb angle variation did not significantly differ between the two groups (p=0.4). Optimal cut-off values for a better outcome were found to be having a Cobb angle <26° or an age <4.5 years. When using optimal cut-off, the treated group showed a lower mean Cobb variation compared with the untreated group (5.61 (SD 4.72) degrees/year vs 10.05 (SD 6.38) degrees/year; p=0.01). Cox-regression analysis indicated a protective treatment effect in reaching a 50° Cobb angle, significant in patients <4.5 years old (p=0.016).
Conclusion: This study highlights that pharmacological treatment, if initiated early, may slow down the progression of scoliosis in type II SMA patients. Larger studies are warranted to further investigate the effectiveness of individual pharmacological treatment on scoliosis progression in this patient population.
Competing Interests: Competing interests: GC, MCP, AD'A, MP, RdS, MC, EB, MP and EM have been a consultant for BIOGEN S.R.L. which owns patent rights to nusinersen of which data from patients in treatment were used in this study. GC, MCP, AD'A, MP, RdS, MC, EB, MP and EM have been a consultant for ROCHE which owns patent rights to risdiplam of which data from patients in treatment were used in this study.
(© Author(s) (or their employer(s)) 2024. No commercial re-use. See rights and permissions. Published by BMJ.)