[en] Muscle diseases cover a diverse group of disorders that in most cases are hereditary. The rarity of the individual muscle diseases provides a challenge for researchers when wanting to establish natural history of the conditions and when trying to develop diagnostic tools, therapies, and outcome measures to evaluate disease progression. With emerging molecular therapies in many genetic muscle diseases, as well as biological therapies for the immune-mediated ones, biological biomarkers play an important role in both drug development and evaluation. In this review, we focus on the role of biological biomarkers in muscle diseases and discuss their utility as surrogate endpoints in therapeutic trials. We categorise these as either 1) disease unspecific markers, 2) markers of specific pathways that may be used for more than one disease or 3) disease-specific markers. We also propose that evaluation of specific therapeutic interventions benefits from biological markers that match the intervention.
Disciplines :
Pediatrics
Author, co-author :
Stemmerik, Mads G ; Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, 2100 Copenhagen, Denmark
Tasca, Giorgio; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne NE1 3BZ, UK
Gilhus, Nils Erik; Department of Clinical Medicine, University of Bergen, 5007 Bergen, Norway ; Department of Neurology, Haukeland University Hospital, 5009 Bergen, Norway
Servais, Laurent ; Université de Liège - ULiège > Département des sciences cliniques ; Department of Paediatrics, MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre, University of Oxford, Oxford OX1 3PT, UK
Vicino, Alex; Nerve-Muscle Unit, Neurology Service, Department of Clinical Neurosciences, Lausanne University Hospital and University of Lausanne, 1005 Lausanne, Switzerland
Maggi, Lorenzo; Neuroimmunology and Neuromuscular Disorders Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan MI, Italy
Sansone, Valeria; The NEMO Clinical Center in Milan, Neurorehabilitation Unit, University of Milan- ERN for Neuromuscular Diseases, 20162 Milan MI, Italy
Vissing, John; Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, 2100 Copenhagen, Denmark
Language :
English
Title :
Biological biomarkers in muscle diseases relevant for follow-up and evaluation of treatment.
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Vertex Pharmaceuticals Incorporated. A phase 1/2, randomized, double-blind, placebo-controlled single- and multiple- dose escalation study evaluating the safety, tolerability, pharmacokinetics, and pharmacodynamics of VX-670 in adult subjects with myotonic dystrophy type 1. clinicaltrials.govidentifier: NCT06185764. Updated 29 August 2024. Accessed 1 January 2024. https://clinicaltrials.gov/study/NCT06185764
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