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The 2026 version of the gene table of neuromuscular disorders (nuclear genome) 2026年版神经肌肉疾病基因表（核基因组）。
IF 2.8 4区 医学 Q2 CLINICAL NEUROLOGY
Neuromuscular Disorders
Pub Date : 2026-01-01 DOI: 10.1016/j.nmd.2025.106303
Louise Benarroch , Gisèle Bonne , François Rivier , Vincent Procaccio , Dalil Hamroun
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引用次数: 0
IF 2.8 4区 医学 Q2 CLINICAL NEUROLOGY
Neuromuscular Disorders
Pub Date : 2026-01-01
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引用次数: 0
IF 2.8 4区 医学 Q2 CLINICAL NEUROLOGY
Neuromuscular Disorders
Pub Date : 2026-01-01
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引用次数: 0
IF 2.8 4区 医学 Q2 CLINICAL NEUROLOGY
Neuromuscular Disorders
Pub Date : 2026-01-01
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引用次数: 0
IF 2.8 4区 医学 Q2 CLINICAL NEUROLOGY
Neuromuscular Disorders
Pub Date : 2026-01-01
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引用次数: 0
IF 2.8 4区 医学 Q2 CLINICAL NEUROLOGY
Neuromuscular Disorders
Pub Date : 2026-01-01
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引用次数: 0
IF 2.8 4区 医学 Q2 CLINICAL NEUROLOGY
Neuromuscular Disorders
Pub Date : 2026-01-01
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引用次数: 0
IF 2.8 4区 医学 Q2 CLINICAL NEUROLOGY
Neuromuscular Disorders
Pub Date : 2026-01-01
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引用次数: 0
285th ENMC international workshop: SMN-associated neurodevelopmental disorder: type 1 spinal muscular atrophy and the brain, 31st January - 2nd February 2025, Hoofddorp, The Netherlands 第285届ENMC国际研讨会：smn相关神经发育障碍：1型脊髓性肌萎缩症和大脑，2025年1月31日至2月2日，荷兰Hoofddorp
IF 2.8 4区 医学 Q2 CLINICAL NEUROLOGY
Neuromuscular Disorders
Pub Date : 2025-12-30 DOI: 10.1016/j.nmd.2025.106331
David Gómez-Andrés , Michelle A Farrar , Mireia Alvarez-Molinero , Rocío Garcia-Uzquiano , Chiara Brusa , Giovanni Baranello , Susana Quijano-Roy , 285th ENMC Workshop participants
Recent advances in spinal muscular atrophy (SMA) early diagnosis and treatment have significantly improved survival and motor outcomes, particularly for those with severe phenotypes. However, clinicians have observed unexpected cognitive, social, communication, and behavioural differences in a proportion of children. The 285th ENMC workshop convened 28 experts from 13 countries to address these neurodevelopmental concerns. Key outcomes included confirming the presence of challenges in neurodevelopment in a substantial proportion of treated SMA type 1 children, identifying higher-risk subgroups, and emphasizing the need for early identification, timely referrals, and family support. Participants agreed on a core screening strategy and highlighted the importance of international collaboration to develop specific diagnostic and intervention guidelines. Future steps involve launching an online survey to assess the prevalence of neurodevelopmental disorders and study their characteristics and trajectories, developing care guidelines, and promoting research working groups to further understand brain development in SMA and improve patient care.
脊髓性肌萎缩症（SMA）早期诊断和治疗的最新进展显著改善了生存率和运动预后，特别是对那些严重表型的患者。然而，临床医生在一定比例的儿童中观察到意想不到的认知、社会、沟通和行为差异。第285届ENMC研讨会召集了来自13个国家的28名专家来讨论这些神经发育问题。主要结果包括确认在接受治疗的1型SMA儿童中存在很大比例的神经发育挑战，确定高风险亚组，并强调早期识别，及时转诊和家庭支持的必要性。与会者商定了一项核心筛查战略，并强调了国际合作以制定具体诊断和干预指南的重要性。未来的步骤包括开展一项在线调查，以评估神经发育障碍的患病率，研究其特征和轨迹，制定护理指南，并促进研究工作组进一步了解SMA的大脑发育并改善患者护理。
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引用次数: 0
Learnings from a registry-based cohort study for spinal muscular atrophy disease 从一项基于登记的脊髓性肌萎缩病队列研究中获得的经验
IF 2.8 4区 医学 Q2 CLINICAL NEUROLOGY
Neuromuscular Disorders
Pub Date : 2025-12-30 DOI: 10.1016/j.nmd.2025.106332
Carla J. Jonker , Kelly Plueschke , Kieran C. Breen , Mencía de Lemus Belmonte , Patrice Verpillat , Alexandra Pacurariu
Spinal muscular atrophy is a rare recessive progressive neurodegenerative disorder. To better understand the progression of spinal muscular atrophy the European Medicines Agency launched a study based on registry data. This manuscript describes some lessons learnt and considerations how to improve future registry-based studies that aim to inform regulatory decision-making. The study started with a feasibility assessment to select appropriate registries from the TREAT-NMD network. The feasibility assessment is key to understand upfront the quality, capability and capacity of registries to address a research question, as well as the potential limitations. Several tools are available on how to assess and ultimately improve data quality. Data from a registry becomes more valuable if it can be linked to other data sources to supplement data. For regulatory decision-making on orphan drugs, it is crucial to collect comprehensive data from non-treated patients. Missing information for important variables in non-treated patients complicates comparison with data from treated patients, as this may introduce bias into the results. Collaboration with registries has demonstrated opportunities for access to registry data and the steps needed to improve data quality. This requires more support in the form of funding, resources and training to understand the legal requirements.
摘要脊髓性肌萎缩症是一种罕见的隐性进行性神经退行性疾病。为了更好地了解脊髓性肌萎缩症的进展，欧洲药品管理局启动了一项基于登记数据的研究。本文描述了一些经验教训和考虑如何改进未来的基于注册的研究，旨在为监管决策提供信息。这项研究首先进行了可行性评估，以便从《条约》- nmd网络中选择适当的登记处。可行性评估是预先了解登记处解决研究问题的质量、能力和能力以及潜在限制的关键。关于如何评估并最终提高数据质量，有几个工具可用。如果可以将来自注册中心的数据链接到其他数据源以补充数据，那么它将变得更有价值。对于孤儿药的监管决策，收集未治疗患者的全面数据至关重要。未治疗患者中重要变量信息的缺失使与治疗患者数据的比较复杂化，因为这可能会导致结果偏倚。与注册中心的协作证明了访问注册中心数据的机会以及提高数据质量所需的步骤。这需要以资金、资源和培训的形式提供更多支持，以了解法律要求。
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引用次数: 0
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