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@ARTICLE{Mancuso:282976,
      author       = {Mancuso, Michelangelo and Lopriore, Piervito and Semmler,
                      Luisa and Kornblum, Cornelia},
      collaboration = {group, 280th ENMC workshop study},
      othercontributors = {Artuch, Rafael and Bellusci, Marcello and Bertini, Enrico
                          and Carelli, Valerio and Distelmaier, Felix and Hirano,
                          Michio and Horvath, Rita and Janssen, Mirian Ch and Karaa,
                          Amel and Klopstock, Thomas and Kornblum, Cornelia and
                          Lamperti, Costanza and Lopriore, Piervito and McFarland,
                          Robert and Ng, Yi Shiau and Mancuso, Michelangelo and
                          Prokisch, Holger and Rahman, Shamima and Schiff, Manuel and
                          Semmler, Luisa and Serenella, Servidei and Taivassalo, Tanja
                          and Vissing, John and van den Ameele, Jelle and Waller,
                          Katie},
      title        = {280th {ENMC} {I}nternational {W}orkshop: {T}he {ERN}
                      {EURO}-{NMD} mitochondrial diseases working group;
                      diagnostic criteria and outcome measures in primary
                      mitochondrial myopathies. {H}oofddorp, the {N}etherlands,
                      22-24 {N}ovember 2024.},
      journal      = {Neuromuscular disorders},
      volume       = {50},
      issn         = {0960-8966},
      address      = {Amsterdam [u.a.]},
      publisher    = {Elsevier Science},
      reportid     = {DZNE-2025-01428},
      pages        = {105340},
      year         = {2025},
      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.},
      keywords     = {Humans / Mitochondrial Myopathies: diagnosis /
                      Mitochondrial Myopathies: therapy / Mitochondrial
                      Myopathies: genetics / Netherlands / Outcome Assessment,
                      Health Care / Patient Reported Outcome Measures / Biomarkers
                      (Other) / Clinical trials (Other) / Diagnostic criteria
                      (Other) / Outcome measures (Other) / Primary mitochondrial
                      myopathy (Other)},
      ddc          = {610},
      pnm          = {353 - Clinical and Health Care Research (POF4-353)},
      pid          = {G:(DE-HGF)POF4-353},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:40273815},
      doi          = {10.1016/j.nmd.2025.105340},
      url          = {https://pub.dzne.de/record/282976},
}