[1]在GNT-014-MDYF自然历史研究中，纵向SV95C测量的综合分析，一个真实DMD人群的电子数字流动性评估

IF 2.8 4区医学 Q2 CLINICAL NEUROLOGY

Neuromuscular Disorders Pub Date : 2025-09-01 DOI:10.1016/j.nmd.2025.105544

T. Montier , S. De Lucia , J. Davion , C. Espil , M. Guglieri , B. Chabrol , L. Le Goff , A. Seferian , G. Perret , E. Guemas , A. Valent , F. Cao , V. Laugel , F. Muntoni

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引用次数: 0

摘要

杜氏肌营养不良症（DMD）是一种严重的神经肌肉疾病，以不同年龄的行动能力丧失为特征。基于医院的物理治疗师辅助（PA）功能评估通常用于监测临床进展。第95百分位跨步速度（SV95C）捕获使用可穿戴设备在现实环境中的日常能力，因此较少依赖于患者与评估者的合作或评估者之间的差异。欧洲药品管理局（EMA）批准SV95C作为DMD的主要终点。本分析旨在通过前瞻性自然历史（NH）研究（GNT-014-MDYF）探讨其有效性和规范性数据。纳入5-9岁接受类固醇治疗且NSAA≥18的DMD男孩。每6个月测量SV95C和其他临床功能指标（如NSAA）。数据（n=77）描述了年龄亚组（5-8Y和>；8Y）。采用类内相关系数（ICC）分析SV95C的信度，SV95C被两个半记录周期分隔。采用Spearman相关法和回归法评估SV95C与其他功能结局的关系。采用标准化反应均值（SRM）评价患者对变化的敏感性。患者对器械的使用表现出良好的依从性（基线时为96%）。SV95C是高度可靠的加班（ICC 0.96- 0.98超过两年），与健康对照明显分离。SV95C与其他PA结果之间存在良好的相关性（相关系数为0.56 ~ 0.83）。在1年和2年，SV95C组的SRM分别为-0.47和-0.80,5-8Y组的SRM平均比基线下降0.097m/s和0.162m/s， 8Y组的SRM平均比基线下降0.298m/s和0.363m/s。本分析证明了SV95C在一项标准化随访的NH研究中的有效性，并与已发表的数据一致。SV95C对临床变化敏感，与其他临床指标相关性良好。可预测性和临床意义阈值有待探讨。

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191PComprehensive analysis of longitudinal SV95C measurements, an e-digital mobility assessment in a real-life DMD population in the GNT-014-MDYF natural history study

Duchenne muscular dystrophy (DMD) is a severe neuromuscular disease characterized by variable age of loss of ambulation. Hospital based physiotherapist-assisted (PA) functional assessments are commonly used for monitoring clinical progression. Stride Velocity at the 95th Centile (SV95C) captures daily ability using a wearable device in a real-life setting and therefore relies less on patient collaboration with assessment or inter-evaluator variability. The European Medicines Agency (EMA) qualified SV95C as a primary endpoint in DMD. This analysis aims to explore its validity and normative data in a prospective natural history (NH) study (GNT-014-MDYF). DMD boys, aged 5-9 years, receiving steroids and achieving an NSAA ≥18 were enrolled. The SV95C and other clinical functional outcomes (e.g., NSAA) were measured every 6 months. Data (n=77) were described for age subgroups (5-8Y and >8Y). SV95C reliability was analyzed by intra-class correlation coefficient (ICC) with SV95C separated by 2 half recording periods. Spearman’s correlation and regression methods were employed to assess the relationship between SV95C and other functional outcomes. The sensibility to change by Standardized response mean (SRM) was assessed. Patients showed good compliance with the use of device (eg 96% at baseline). SV95C was highly reliable overtime (ICC 0.96- 0.98 over two years), with clear separation from the healthy controls. Good correlations were observed between SV95C and other PA outcomes (Correlation coefficient from 0.56 to 0.83).

At 1 and 2 years, SRM were -0.47 and -0.80 in SV95C with mean declines from baseline of 0.097m/s and 0.162m/s for 5-8Y and 0.298m/s and 0.363m/s for >8Y groups. This analysis demonstrated the validity of SV95C in a NH study with standardized follow-up and its consistency with published data. SV95C was sensitive to detect clinical change and correlated well with other clinical measures. The predictability and clinical meaningful thresholds are to be explored.

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来源期刊

Neuromuscular Disorders 医学-临床神经学

CiteScore

4.60

自引率

3.60%

发文量

543

审稿时长

53 days

期刊介绍： This international, multidisciplinary journal covers all aspects of neuromuscular disorders in childhood and adult life (including the muscular dystrophies, spinal muscular atrophies, hereditary neuropathies, congenital myopathies, myasthenias, myotonic syndromes, metabolic myopathies and inflammatory myopathies). The Editors welcome original articles from all areas of the field: • Clinical aspects, such as new clinical entities, case studies of interest, treatment, management and rehabilitation (including biomechanics, orthotic design and surgery). • Basic scientific studies of relevance to the clinical syndromes, including advances in the fields of molecular biology and genetics. • Studies of animal models relevant to the human diseases. The journal is aimed at a wide range of clinicians, pathologists, associated paramedical professionals and clinical and basic scientists with an interest in the study of neuromuscular disorders.