Real-world data on spinal muscular atrophy in Spain: Insights from over 500 individuals in the CuidAME project.

IF 3.4 4区 医学 Q2 CLINICAL NEUROLOGY
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
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引用次数: 0

Abstract

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.

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。
脊髓性肌萎缩症(SMA)的新治疗模式引入了新的表型,轨迹的变化和临床试验中未完全解决的临床问题。为了探讨这些挑战,出现了若干国际倡议。CuidAME是在西班牙创建的一个全国性临床网络,旨在标准化SMA护理,促进知识共享,并在纵向综合登记中获取数据。目的评估CuidAME项目在真实环境中获取数据的有效性。方法本多中心队列研究包括在参与医院随访的SMA患者。临床检查和多学科评估在常规临床访问期间进行。我们对登记人口进行了横断面分析。截至2025年2月,来自25家医院的543名参与者被招募:12名症状前,125名(23%)患有SMA 1型,208名(35%)患有SMA 2型,194名(38%)患有SMA 3型和4型(CuidAME是一项学术、纵向、真实世界的数据收集项目,展示了一种快速有效的实施模式,促进了西班牙临床实践和结果测量的标准化。通过与其他注册中心使用的核心数据集保持一致,并建立多学科工作组,该倡议将有助于共享知识,以推进SMA护理并改善患者预后。
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来源期刊
Journal of neuromuscular diseases
Journal of neuromuscular diseases Medicine-Neurology (clinical)
CiteScore
5.10
自引率
6.10%
发文量
102
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.
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