title: Biomarkers in rare neuromuscular diseases.
abstract: Neuromuscular diseases (NMDs) comprise a range of rare disorders that include both hereditary peripheral neuropathies and myopathies. The heterogeneity and rarity of neuromuscular disorders are challenges for researchers seeking to develop effective diagnosis and treatment strategies. In particular, clinical trials of new therapies are made more difficult due to lack of reliable and monitorable clinical outcome measures. Biomarkers could be a way to speed up research in this field, shedding light on the pathophysiological mechanisms behind such diseases and providing invaluable tools for monitoring their progression, prognosis and response to drug treatment. Furthermore, biomarkers could represent a surrogate endpoint for clinical trials, enabling better stratification of patient cohorts through more accurate diagnosis and prognosis prediction. This review summarizes the types, applications, characteristics and best strategies for biomarker discovery to date.
authors.affiliation: Section of Microbiology and Medical Genetics, Department of Medical Science, University of Ferrara, Ferrara, Italy.
authors.forename: Chiara
authors.initials: C
authors.lastname: Scotton
authors.affiliation: Unit of Molecular Medicine for Neuromuscular and Neurodegenerative Diseases, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
authors.forename: Chiara
authors.initials: C
authors.lastname: Passarelli
authors.affiliation: Section of Microbiology and Medical Genetics, Department of Medical Science, University of Ferrara, Ferrara, Italy.
authors.forename: Marcella
authors.initials: M
authors.lastname: Neri
authors.affiliation: Section of Microbiology and Medical Genetics, Department of Medical Science, University of Ferrara, Ferrara, Italy. Electronic address: fla@unife.it.
authors.forename: Alessandra
authors.initials: A
authors.lastname: Ferlini
mesh_terms: D000818:Animals; D015415:Biomarkers / Q000378:metabolism; D005819:Genetic Markers; D006801:Humans; D009468:Neuromuscular Diseases / Q000235:genetics / Q000378:metabolism*; D020543:Proteome / Q000378:metabolism
chemical_list: D015415:Biomarkers; D005819:Genetic Markers; D020543:Proteome
keywords: Biomarker discovery; Diagnostic/prognostic biomarker; Neuromuscular diseases; Personalized medicine; Predictive/therapeutic biomarkers