Innovative treatments of pediatric spinal muscular atrophy: The decision-making process in France

IF 1.7 4区医学 Q3 GENETICS & HEREDITY

European journal of medical genetics Pub Date : 2025-09-09 DOI:10.1016/j.ejmg.2025.105044

Maelle Biotteau , Juliette Ropars , Brigitte Chabrol , Isabelle Desguerre , Christine Barnéria , Claude Cances

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引用次数: 0

Abstract

Spinal muscular atrophy (SMA) is a devastating early-onset genetic disease characterized by motor neuron degeneration. For several years, an early access program has facilitated the use of three innovative therapies in France. To better define the therapeutic strategy following innovative therapy approval, an online expert committee within the French Rare Health Care for Neuromuscular Diseases Network (FILNEMUS) evaluates early diagnosed children and treatment-naive SMA cases during pediatric SMA multidisciplinary team meetings (psMTMs). The decision process leading to molecule choice or palliative care encompasses pretreatment data collection, case presentation during psMTMs, decision support, collective decision-making, and consensus, including the place assigned to parents. The process of setting up a nationwide online network of experts seems to be an effective, reactive and useful procedure in choosing the appropriate therapeutic option for newly diagnosed SMA children.

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儿童脊髓性肌萎缩症的创新治疗：法国的决策过程。

脊髓性肌萎缩症（SMA）是一种以运动神经元变性为特征的破坏性早发遗传性疾病。几年来，一个早期获取项目促进了法国三种创新疗法的使用。为了更好地确定创新疗法批准后的治疗策略，法国神经肌肉疾病罕见保健网络（FILNEMUS）的在线专家委员会在儿童SMA多学科团队会议（psMTMs）期间评估早期诊断的儿童和未治疗的SMA病例。分子选择或姑息治疗的决策过程包括预处理数据收集、psMTMs期间的病例报告、决策支持、集体决策和共识，包括分配给家长的地点。在为新诊断的SMA儿童选择合适的治疗方案时，建立一个全国性的在线专家网络似乎是一个有效的、反应性的和有用的过程。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

European journal of medical genetics 医学-遗传学

CiteScore

4.10

自引率

0.00%

发文量

193

审稿时长

66 days

期刊介绍： The European Journal of Medical Genetics (EJMG) is a peer-reviewed journal that publishes articles in English on various aspects of human and medical genetics and of the genetics of experimental models. Original clinical and experimental research articles, short clinical reports, review articles and letters to the editor are welcome on topics such as : • Dysmorphology and syndrome delineation • Molecular genetics and molecular cytogenetics of inherited disorders • Clinical applications of genomics and nextgen sequencing technologies • Syndromal cancer genetics • Behavioral genetics • Community genetics • Fetal pathology and prenatal diagnosis • Genetic counseling.