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000282976 1001_ $$aMancuso, Michelangelo$$b0
000282976 245__ $$a280th ENMC International Workshop: The ERN EURO-NMD mitochondrial diseases working group; diagnostic criteria and outcome measures in primary mitochondrial myopathies. Hoofddorp, the Netherlands, 22-24 November 2024.
000282976 260__ $$aAmsterdam [u.a.]$$bElsevier Science$$c2025
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000282976 520__ $$aThe 280th ENMC International Workshop, held in Hoofddorp, The Netherlands, November 22-24, 2024, focused on primary mitochondrial myopathies (PMM). The workshop aimed to update diagnostic criteria, outcome measures, and explore new digital health technologies (DHTs) in the context of clinical trial design and conduct for PMM. Key points discussed included: (i) PMM definition and phenotypes; PMM are genetically determined mitochondrial disorders with prominent skeletal muscle involvement with two major phenotypes: mitochondrial myopathy (MiMy) either with or without chronic progressive external ophthalmoplegia (PEO); (ii) diagnostic criteria, with emphasis on the importance of genetic testing and muscle biopsy for accurate diagnosis; (iii) outcome measures: consensus on clinical scales, functional tests, performance measures, and patient-reported outcome measures (PROMs) for both adults and children; (iv) digital health technologies, with exploration of wearable and non-wearable technologies for gait analysis, physical activity monitoring, and other assessments; (v) potential and limitations of biomarkers for PMM diagnosis and monitoring. The workshop concluded with a strong consensus on the updated definition of PMM, its phenotypes, and the recommended outcome measures for clinical studies. Further research is needed to validate digital health technologies and biomarkers for PMM.
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000282976 650_7 $$2Other$$aBiomarkers
000282976 650_7 $$2Other$$aClinical trials
000282976 650_7 $$2Other$$aDiagnostic criteria
000282976 650_7 $$2Other$$aOutcome measures
000282976 650_7 $$2Other$$aPrimary mitochondrial myopathy
000282976 650_2 $$2MeSH$$aHumans
000282976 650_2 $$2MeSH$$aMitochondrial Myopathies: diagnosis
000282976 650_2 $$2MeSH$$aMitochondrial Myopathies: therapy
000282976 650_2 $$2MeSH$$aMitochondrial Myopathies: genetics
000282976 650_2 $$2MeSH$$aNetherlands
000282976 650_2 $$2MeSH$$aOutcome Assessment, Health Care
000282976 650_2 $$2MeSH$$aPatient Reported Outcome Measures
000282976 7001_ $$aLopriore, Piervito$$b1
000282976 7001_ $$aSemmler, Luisa$$b2
000282976 7001_ $$aKornblum, Cornelia$$b3
000282976 7001_ $$agroup, 280th ENMC workshop study$$b4$$eCollaboration Author
000282976 7001_ $$aArtuch, Rafael$$b5$$eContributor
000282976 7001_ $$aBellusci, Marcello$$b6$$eContributor
000282976 7001_ $$aBertini, Enrico$$b7$$eContributor
000282976 7001_ $$aCarelli, Valerio$$b8$$eContributor
000282976 7001_ $$aDistelmaier, Felix$$b9$$eContributor
000282976 7001_ $$aHirano, Michio$$b10$$eContributor
000282976 7001_ $$aHorvath, Rita$$b11$$eContributor
000282976 7001_ $$aJanssen, Mirian Ch$$b12$$eContributor
000282976 7001_ $$aKaraa, Amel$$b13$$eContributor
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000282976 7001_ $$aKornblum, Cornelia$$b15$$eContributor
000282976 7001_ $$aLamperti, Costanza$$b16$$eContributor
000282976 7001_ $$aLopriore, Piervito$$b17$$eContributor
000282976 7001_ $$aMcFarland, Robert$$b18$$eContributor
000282976 7001_ $$aNg, Yi Shiau$$b19$$eContributor
000282976 7001_ $$aMancuso, Michelangelo$$b20$$eContributor
000282976 7001_ $$aProkisch, Holger$$b21$$eContributor
000282976 7001_ $$aRahman, Shamima$$b22$$eContributor
000282976 7001_ $$aSchiff, Manuel$$b23$$eContributor
000282976 7001_ $$aSemmler, Luisa$$b24$$eContributor
000282976 7001_ $$aSerenella, Servidei$$b25$$eContributor
000282976 7001_ $$aTaivassalo, Tanja$$b26$$eContributor
000282976 7001_ $$aVissing, John$$b27$$eContributor
000282976 7001_ $$avan den Ameele, Jelle$$b28$$eContributor
000282976 7001_ $$aWaller, Katie$$b29$$eContributor
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