Cristina Puig-Ram, Sonia Segovia, Rocio Garcia-Uzquiano, Nancy Carolina Ñungo Garzón, Karolina Aragon-Gawinska, Mar García Romero, Jesica María Expósito-Escudero, Laura Carrera-García, Mercedes López-Lobato, Carmen Paradas, Laura González Mera, Mireia Álvarez Molinero, David Gómez Andrés, Esther Toro, Joaquín Alejandro Fernández Ramos, Maria Antonia Grimalt, Laura Toledo Bravo de Laguna, Desire González Barrios, Eduardo F Tizzano, Maria Grazia Cattinari, Julita Medina, Rocío Calvo Medina, Francina Munell, Javier Sotoca, Eduardo Martínez-Salcedo, Antonio Moreno Escribano, Mónica Povedano Panadés, Miguel A Fernández-García, Inmaculada Pitarch-Castellano, Juan F Vázquez-Costa, Daniel Natera-de Benito, Andres Nascimento
{"title":"西班牙脊髓性肌萎缩症的真实数据:来自CuidAME项目中500多人的见解。","authors":"Cristina Puig-Ram, Sonia Segovia, Rocio Garcia-Uzquiano, Nancy Carolina Ñungo Garzón, Karolina Aragon-Gawinska, Mar García Romero, Jesica María Expósito-Escudero, Laura Carrera-García, Mercedes López-Lobato, Carmen Paradas, Laura González Mera, Mireia Álvarez Molinero, David Gómez Andrés, Esther Toro, Joaquín Alejandro Fernández Ramos, Maria Antonia Grimalt, Laura Toledo Bravo de Laguna, Desire González Barrios, Eduardo F Tizzano, Maria Grazia Cattinari, Julita Medina, Rocío Calvo Medina, Francina Munell, Javier Sotoca, Eduardo Martínez-Salcedo, Antonio Moreno Escribano, Mónica Povedano Panadés, Miguel A Fernández-García, Inmaculada Pitarch-Castellano, Juan F Vázquez-Costa, Daniel Natera-de Benito, Andres Nascimento","doi":"10.1177/22143602251361190","DOIUrl":null,"url":null,"abstract":"<p><p>BackgroundThe new treatment paradigm in Spinal Muscular Atrophy (SMA) has introduced novel phenotypes, changes in trajectories and clinical questions not fully addressed in clinical trials. To explore these challenges, several international initiatives have emerged. <i>CuidAME</i> was created as a nationwide clinical network in Spain designed to standardise SMA care, facilitate knowledge sharing, and capture data in a longitudinal comprehensive registry.ObjectiveEvaluating the usefulness of the <i>CuidAME</i> project to capture data in a real-world setting.MethodsThis multicentric cohort study includes individuals with SMA followed at participating hospitals. Clinical examinations and multidisciplinary assessments were performed during routine clinical visits. We present a cross-sectional analysis of the registry population.ResultsAs of February 2025, 543 participants from 25 hospitals were recruited: 12 were presymptomatic, 125 (23%) had SMA type 1, 208 (35%) type 2, 194 (38%) type 3, and 4 (<1%) type 4. Among the cohort, 91% (n = 495) had received at least one disease-modifier treatment, with 17 discontinuations. The registry included 5092 motor assessments, 1565 performed before treatment initiation.Conclusions<i>CuidAME</i> is an academic, longitudinal, real-world data collection project that demonstrated a fast and effective model for implementation facilitating the standardization of clinical practices and outcome measures across Spain. By aligning with core dataset used in other registries and establishing multidisciplinary working groups, the initiative will contribute to sharing knowledge to advance SMA care and improve patient outcomes.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"22143602251361190"},"PeriodicalIF":3.4000,"publicationDate":"2025-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Real-world data on spinal muscular atrophy in Spain: Insights from over 500 individuals in the CuidAME project.\",\"authors\":\"Cristina Puig-Ram, Sonia Segovia, Rocio Garcia-Uzquiano, Nancy Carolina Ñungo Garzón, Karolina Aragon-Gawinska, Mar García Romero, Jesica María Expósito-Escudero, Laura Carrera-García, Mercedes López-Lobato, Carmen Paradas, Laura González Mera, Mireia Álvarez Molinero, David Gómez Andrés, Esther Toro, Joaquín Alejandro Fernández Ramos, Maria Antonia Grimalt, Laura Toledo Bravo de Laguna, Desire González Barrios, Eduardo F Tizzano, Maria Grazia Cattinari, Julita Medina, Rocío Calvo Medina, Francina Munell, Javier Sotoca, Eduardo Martínez-Salcedo, Antonio Moreno Escribano, Mónica Povedano Panadés, Miguel A Fernández-García, Inmaculada Pitarch-Castellano, Juan F Vázquez-Costa, Daniel Natera-de Benito, Andres Nascimento\",\"doi\":\"10.1177/22143602251361190\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>BackgroundThe new treatment paradigm in Spinal Muscular Atrophy (SMA) has introduced novel phenotypes, changes in trajectories and clinical questions not fully addressed in clinical trials. To explore these challenges, several international initiatives have emerged. <i>CuidAME</i> was created as a nationwide clinical network in Spain designed to standardise SMA care, facilitate knowledge sharing, and capture data in a longitudinal comprehensive registry.ObjectiveEvaluating the usefulness of the <i>CuidAME</i> project to capture data in a real-world setting.MethodsThis multicentric cohort study includes individuals with SMA followed at participating hospitals. Clinical examinations and multidisciplinary assessments were performed during routine clinical visits. We present a cross-sectional analysis of the registry population.ResultsAs of February 2025, 543 participants from 25 hospitals were recruited: 12 were presymptomatic, 125 (23%) had SMA type 1, 208 (35%) type 2, 194 (38%) type 3, and 4 (<1%) type 4. Among the cohort, 91% (n = 495) had received at least one disease-modifier treatment, with 17 discontinuations. The registry included 5092 motor assessments, 1565 performed before treatment initiation.Conclusions<i>CuidAME</i> is an academic, longitudinal, real-world data collection project that demonstrated a fast and effective model for implementation facilitating the standardization of clinical practices and outcome measures across Spain. By aligning with core dataset used in other registries and establishing multidisciplinary working groups, the initiative will contribute to sharing knowledge to advance SMA care and improve patient outcomes.</p>\",\"PeriodicalId\":16536,\"journal\":{\"name\":\"Journal of neuromuscular diseases\",\"volume\":\" \",\"pages\":\"22143602251361190\"},\"PeriodicalIF\":3.4000,\"publicationDate\":\"2025-07-28\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of neuromuscular diseases\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1177/22143602251361190\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"CLINICAL NEUROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of neuromuscular diseases","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1177/22143602251361190","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
Real-world data on spinal muscular atrophy in Spain: Insights from over 500 individuals in the CuidAME project.
BackgroundThe new treatment paradigm in Spinal Muscular Atrophy (SMA) has introduced novel phenotypes, changes in trajectories and clinical questions not fully addressed in clinical trials. To explore these challenges, several international initiatives have emerged. CuidAME was created as a nationwide clinical network in Spain designed to standardise SMA care, facilitate knowledge sharing, and capture data in a longitudinal comprehensive registry.ObjectiveEvaluating the usefulness of the CuidAME project to capture data in a real-world setting.MethodsThis multicentric cohort study includes individuals with SMA followed at participating hospitals. Clinical examinations and multidisciplinary assessments were performed during routine clinical visits. We present a cross-sectional analysis of the registry population.ResultsAs of February 2025, 543 participants from 25 hospitals were recruited: 12 were presymptomatic, 125 (23%) had SMA type 1, 208 (35%) type 2, 194 (38%) type 3, and 4 (<1%) type 4. Among the cohort, 91% (n = 495) had received at least one disease-modifier treatment, with 17 discontinuations. The registry included 5092 motor assessments, 1565 performed before treatment initiation.ConclusionsCuidAME is an academic, longitudinal, real-world data collection project that demonstrated a fast and effective model for implementation facilitating the standardization of clinical practices and outcome measures across Spain. By aligning with core dataset used in other registries and establishing multidisciplinary working groups, the initiative will contribute to sharing knowledge to advance SMA care and improve patient outcomes.
期刊介绍:
The Journal of Neuromuscular Diseases aims to facilitate progress in understanding the molecular genetics/correlates, pathogenesis, pharmacology, diagnosis and treatment of acquired and genetic neuromuscular diseases (including muscular dystrophy, myasthenia gravis, spinal muscular atrophy, neuropathies, myopathies, myotonias and myositis). The journal publishes research reports, reviews, short communications, letters-to-the-editor, and will consider research that has negative findings. The journal is dedicated to providing an open forum for original research in basic science, translational and clinical research that will improve our fundamental understanding and lead to effective treatments of neuromuscular diseases.