Delphi consensus on recommendations for the treatment of spinal muscular atrophy in Spain (RET-AME consensus)
Introduction: Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by a biallelic mutation of the SMN1 gene, located on the long arm of chromosome 5, and predominantly affects the motor neurons of the anterior horn of the spinal cord, causing progressive muscle weakness and atrophy. T...
| Autores: | , , , , , , , , , , , , , , , , , , , , , , |
|---|---|
| Tipo de recurso: | artículo |
| Fecha de publicación: | 2022 |
| País: | España |
| Institución: | Conselleria de Salut i Consum del Govern de les Illes Balears |
| Repositorio: | Docusalut |
| Idioma: | inglés |
| OAI Identifier: | oai:docusalut.com:20.500.13003/19527 |
| Acceso en línea: | https://hdl.handle.net/20.500.13003/19527 |
| Access Level: | acceso abierto |
| Palabra clave: | Child Muscular Atrophy, Spinal Infant, Newborn Spain Neurodegenerative Diseases Delphi Technique Humans Consensus Consenso Humanos Técnica Delfos Enfermedades Neurodegenerativas Recién Nacido Atrofia Muscular Espinal Niño España Spinal muscular atrophy (SMA) Treatment Delphi Neuromuscular |
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Delphi consensus on recommendations for the treatment of spinal muscular atrophy in Spain (RET-AME consensus)Pitarch Castellano, ICabrera-Serrano, MacarenaCalvo Medina, RocíoCattinari, Maria GraziaEspinosa Garcia, S.Fernandez-Ramos, J. A.Garcia Campos, O.Gomez-andres, D.Grimalt Calatayud, M. A.Gutierrez Martinez, A. J.Ibanez Albert, E.Kapetanovic Garcia, S.Madruga-Garrido, M.Martinez-Moreno, M.Medina Cantillo, J.Melian Suarez, A., IMoreno Escribano, A.Munell, F.Nascimento Osorio, A.Pascual-Pascual, Samuel I.Povedano, M.Santana Casiano, I. M.Vazquez-Costa, J. F.ChildMuscular Atrophy, SpinalInfant, NewbornSpainNeurodegenerative DiseasesDelphi TechniqueHumansConsensusConsensoHumanosTécnica DelfosEnfermedades NeurodegenerativasRecién NacidoAtrofia Muscular EspinalNiñoEspañaSpinal muscular atrophy (SMA)TreatmentDelphiNeuromuscularIntroduction: Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by a biallelic mutation of the SMN1 gene, located on the long arm of chromosome 5, and predominantly affects the motor neurons of the anterior horn of the spinal cord, causing progressive muscle weakness and atrophy. The development of disease-modifying treatments is significantly changing the natural history of SMA, but uncertainty remains about which patients can benefit from these treatments and how that benefit should be measured.Methodology: A group of experts specialised in neurology, neuropediatrics, and rehabilitation and representatives of the Spanish association of patients with SMA followed the Delphi method to reach a consensus on 5 issues related to the use of these new treatments: general aspects, treatment objectives, outcome assessment tools, requirements of the treating centres, and regulation of their use. Consensus was considered to be achieved when a response received at least 80% of votes.Results: Treatment protocols are useful for regulating the use of high-impact medications and should guide treatment, but should be updated regularly to take into account the most recent evidence available, and their implementation should be assessed on an individual basis. Age, baseline functional status, and, in the case of children, the type of SMA and the number of copies of SMN2 are characteristics that should be considered when establishing therapeutic objectives, assessment tools, and the use of such treatments. The cost-effectiveness of these treatments in paediatric patients is mainly influenced by early treatment onset; therefore, the implementation of neonatal screening is recommended.Conclusions: The RET-AME consensus recommendations provide a frame of reference for the appropriate use of disease-modifying treatments in patients with SMA. (c) 2021 Sociedad Espanola de Neurologi acute accent a. Published by Elsevier Espana, S.L.U. This is an open access research article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/ 4.0/).Elsevier Espana Slu20222022-04-0120222022-04-01research articlehttp://purl.org/coar/resource_type/c_2df8fbb1info:eu-repo/semantics/articleapplication/pdfhttps://hdl.handle.net/20.500.13003/19527reponame:Docusalutinstname:Conselleria de Salut i Consum del Govern de les Illes BalearsInglésengopen accesshttp://purl.org/coar/access_right/c_abf2Attribution 4.0 Internationalhttp://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:docusalut.com:20.500.13003/195272026-06-22T12:44:07Z |
| dc.title.none.fl_str_mv |
Delphi consensus on recommendations for the treatment of spinal muscular atrophy in Spain (RET-AME consensus) |
| title |
Delphi consensus on recommendations for the treatment of spinal muscular atrophy in Spain (RET-AME consensus) |
| spellingShingle |
Delphi consensus on recommendations for the treatment of spinal muscular atrophy in Spain (RET-AME consensus) Pitarch Castellano, I Child Muscular Atrophy, Spinal Infant, Newborn Spain Neurodegenerative Diseases Delphi Technique Humans Consensus Consenso Humanos Técnica Delfos Enfermedades Neurodegenerativas Recién Nacido Atrofia Muscular Espinal Niño España Spinal muscular atrophy (SMA) Treatment Delphi Neuromuscular |
| title_short |
Delphi consensus on recommendations for the treatment of spinal muscular atrophy in Spain (RET-AME consensus) |
| title_full |
Delphi consensus on recommendations for the treatment of spinal muscular atrophy in Spain (RET-AME consensus) |
| title_fullStr |
Delphi consensus on recommendations for the treatment of spinal muscular atrophy in Spain (RET-AME consensus) |
| title_full_unstemmed |
Delphi consensus on recommendations for the treatment of spinal muscular atrophy in Spain (RET-AME consensus) |
| title_sort |
Delphi consensus on recommendations for the treatment of spinal muscular atrophy in Spain (RET-AME consensus) |
| dc.creator.none.fl_str_mv |
Pitarch Castellano, I Cabrera-Serrano, Macarena Calvo Medina, Rocío Cattinari, Maria Grazia Espinosa Garcia, S. Fernandez-Ramos, J. A. Garcia Campos, O. Gomez-andres, D. Grimalt Calatayud, M. A. Gutierrez Martinez, A. J. Ibanez Albert, E. Kapetanovic Garcia, S. Madruga-Garrido, M. Martinez-Moreno, M. Medina Cantillo, J. Melian Suarez, A., I Moreno Escribano, A. Munell, F. Nascimento Osorio, A. Pascual-Pascual, Samuel I. Povedano, M. Santana Casiano, I. M. Vazquez-Costa, J. F. |
| author |
Pitarch Castellano, I |
| author_facet |
Pitarch Castellano, I Cabrera-Serrano, Macarena Calvo Medina, Rocío Cattinari, Maria Grazia Espinosa Garcia, S. Fernandez-Ramos, J. A. Garcia Campos, O. Gomez-andres, D. Grimalt Calatayud, M. A. Gutierrez Martinez, A. J. Ibanez Albert, E. Kapetanovic Garcia, S. Madruga-Garrido, M. Martinez-Moreno, M. Medina Cantillo, J. Melian Suarez, A., I Moreno Escribano, A. Munell, F. Nascimento Osorio, A. Pascual-Pascual, Samuel I. Povedano, M. Santana Casiano, I. M. Vazquez-Costa, J. F. |
| author_role |
author |
| author2 |
Cabrera-Serrano, Macarena Calvo Medina, Rocío Cattinari, Maria Grazia Espinosa Garcia, S. Fernandez-Ramos, J. A. Garcia Campos, O. Gomez-andres, D. Grimalt Calatayud, M. A. Gutierrez Martinez, A. J. Ibanez Albert, E. Kapetanovic Garcia, S. Madruga-Garrido, M. Martinez-Moreno, M. Medina Cantillo, J. Melian Suarez, A., I Moreno Escribano, A. Munell, F. Nascimento Osorio, A. Pascual-Pascual, Samuel I. Povedano, M. Santana Casiano, I. M. Vazquez-Costa, J. F. |
| author2_role |
author author author author author author author author author author author author author author author author author author author author author author |
| dc.contributor.none.fl_str_mv |
|
| dc.subject.none.fl_str_mv |
Child Muscular Atrophy, Spinal Infant, Newborn Spain Neurodegenerative Diseases Delphi Technique Humans Consensus Consenso Humanos Técnica Delfos Enfermedades Neurodegenerativas Recién Nacido Atrofia Muscular Espinal Niño España Spinal muscular atrophy (SMA) Treatment Delphi Neuromuscular |
| topic |
Child Muscular Atrophy, Spinal Infant, Newborn Spain Neurodegenerative Diseases Delphi Technique Humans Consensus Consenso Humanos Técnica Delfos Enfermedades Neurodegenerativas Recién Nacido Atrofia Muscular Espinal Niño España Spinal muscular atrophy (SMA) Treatment Delphi Neuromuscular |
| description |
Introduction: Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by a biallelic mutation of the SMN1 gene, located on the long arm of chromosome 5, and predominantly affects the motor neurons of the anterior horn of the spinal cord, causing progressive muscle weakness and atrophy. The development of disease-modifying treatments is significantly changing the natural history of SMA, but uncertainty remains about which patients can benefit from these treatments and how that benefit should be measured.Methodology: A group of experts specialised in neurology, neuropediatrics, and rehabilitation and representatives of the Spanish association of patients with SMA followed the Delphi method to reach a consensus on 5 issues related to the use of these new treatments: general aspects, treatment objectives, outcome assessment tools, requirements of the treating centres, and regulation of their use. Consensus was considered to be achieved when a response received at least 80% of votes.Results: Treatment protocols are useful for regulating the use of high-impact medications and should guide treatment, but should be updated regularly to take into account the most recent evidence available, and their implementation should be assessed on an individual basis. Age, baseline functional status, and, in the case of children, the type of SMA and the number of copies of SMN2 are characteristics that should be considered when establishing therapeutic objectives, assessment tools, and the use of such treatments. The cost-effectiveness of these treatments in paediatric patients is mainly influenced by early treatment onset; therefore, the implementation of neonatal screening is recommended.Conclusions: The RET-AME consensus recommendations provide a frame of reference for the appropriate use of disease-modifying treatments in patients with SMA. (c) 2021 Sociedad Espanola de Neurologi acute accent a. Published by Elsevier Espana, S.L.U. This is an open access research article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/ 4.0/). |
| publishDate |
2022 |
| dc.date.none.fl_str_mv |
2022 2022-04-01 2022 2022-04-01 |
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research article http://purl.org/coar/resource_type/c_2df8fbb1 |
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info:eu-repo/semantics/article |
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article |
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https://hdl.handle.net/20.500.13003/19527 |
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https://hdl.handle.net/20.500.13003/19527 |
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Inglés eng |
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Inglés |
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eng |
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open access http://purl.org/coar/access_right/c_abf2 Attribution 4.0 International http://creativecommons.org/licenses/by/4.0/ |
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info:eu-repo/semantics/openAccess |
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open access http://purl.org/coar/access_right/c_abf2 Attribution 4.0 International http://creativecommons.org/licenses/by/4.0/ |
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openAccess |
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application/pdf |
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Elsevier Espana Slu |
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Elsevier Espana Slu |
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reponame:Docusalut instname:Conselleria de Salut i Consum del Govern de les Illes Balears |
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