280th ENMC International Workshop: The ERN EURO-NMD mitochondrial diseases working group; diagnostic criteria and outcome measures in primary mitochondrial myopathies. Hoofddorp, the Netherlands, 22-24 November 2024

IF 2.7 4区医学 Q2 CLINICAL NEUROLOGY

Neuromuscular Disorders Pub Date : 2025-03-22 DOI:10.1016/j.nmd.2025.105340

Michelangelo Mancuso , Piervito Lopriore , Luisa Semmler , Cornelia Kornblum , the 280th ENMC workshop study group

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引用次数: 0

Abstract

The 280th ENMC International Workshop, held in Hoofddorp, The Netherlands, November 22–24, 2024, focused on primary mitochondrial myopathies (PMM). The workshop aimed to update diagnostic criteria, outcome measures, and explore new digital health technologies (DHTs) in the context of clinical trial design and conduct for PMM. Key points discussed included: (i) PMM definition and phenotypes; PMM are genetically determined mitochondrial disorders with prominent skeletal muscle involvement with two major phenotypes: mitochondrial myopathy (MiMy) either with or without chronic progressive external ophthalmoplegia (PEO); (ii) diagnostic criteria, with emphasis on the importance of genetic testing and muscle biopsy for accurate diagnosis; (iii) outcome measures: consensus on clinical scales, functional tests, performance measures, and patient-reported outcome measures (PROMs) for both adults and children; (iv) digital health technologies, with exploration of wearable and non-wearable technologies for gait analysis, physical activity monitoring, and other assessments; (v) potential and limitations of biomarkers for PMM diagnosis and monitoring. The workshop concluded with a strong consensus on the updated definition of PMM, its phenotypes, and the recommended outcome measures for clinical studies. Further research is needed to validate digital health technologies and biomarkers for PMM.

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第280届ENMC国际研讨会：ERN EURO-NMD线粒体疾病工作组；原发性线粒体肌病的诊断标准和结果测量。2024年11月22日至24日，荷兰胡夫多普

第280届ENMC国际研讨会于2024年11月22日至24日在荷兰Hoofddorp举行，重点关注原发性线粒体肌病（PMM）。研讨会旨在更新PMM临床试验设计和实施背景下的诊断标准、结果测量和探索新的数字卫生技术（dht）。讨论的重点包括：(i) PMM的定义和表型；PMM是由遗传决定的线粒体疾病，骨骼肌明显受累，有两种主要表型：线粒体肌病（MiMy）伴或不伴慢性进行性外眼肌麻痹（PEO）；（ii）诊断标准，强调基因检测和肌肉活检对准确诊断的重要性；（iii）结果测量：对成人和儿童的临床量表、功能测试、绩效测量和患者报告的结果测量（PROMs）达成共识；（四）数字卫生技术，探索用于步态分析、身体活动监测和其他评估的可穿戴和非穿戴技术；(v) PMM诊断和监测生物标志物的潜力和局限性。研讨会就PMM的最新定义、其表型和推荐的临床研究结果指标达成了强烈共识。需要进一步的研究来验证数字卫生技术和PMM的生物标志物。

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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.