title: Ongoing therapeutic trials and outcome measures for Duchenne muscular dystrophy.
abstract: Muscular dystrophy is a heterogeneous group of genetic disorders characterised by progressive muscle tissue degeneration. No effective treatment has been discovered for these diseases. Preclinical and clinical studies aimed at the development of new therapeutic approaches have been carried out, primarily in subjects affected with dystrophinopathies (Duchenne and Becker muscular dystrophy). In this review, we outline the current therapeutic approaches and past and ongoing clinical trials, highlighting both the advantages and limits of each one. The experimental designs of these trials were based on different rationales, including immunomodulation, readthrough strategies, exon skipping, gene therapy, and cell therapy. We also provide an overview of available outcome measures, focusing on their reliability in estimating meaningful clinical improvement in order to aid in the design of future trials. This perspective is extremely relevant to the field considering the recent development of novel therapeutic approaches that will result in an increasing number of clinical studies over the next few years.
authors.affiliation: Neuroscience Section, Neurology Unit, Department of Pathophysiology and Transplantation (DEPT), Dino Ferrari Centre, University of Milan, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Italy Via Francesco Sforza 35, 20122, Milan, Italy.
authors.forename: Alessandra
authors.initials: A
authors.lastname: Govoni
authors.forename: Francesca
authors.initials: F
authors.lastname: Magri
authors.forename: Simona
authors.initials: S
authors.lastname: Brajkovic
authors.forename: Chiara
authors.initials: C
authors.lastname: Zanetta
authors.forename: Irene
authors.initials: I
authors.lastname: Faravelli
authors.forename: Stefania
authors.initials: S
authors.lastname: Corti
authors.forename: Nereo
authors.initials: N
authors.lastname: Bresolin
authors.forename: Giacomo P
authors.initials: GP
authors.lastname: Comi
mesh_terms: D000818:Animals; D015415:Biomarkers / Q000097:blood; D002986:Clinical Trials as Topic / Q000379:methods*; D004358:Drug Therapy / Q000379:methods; D006801:Humans; D020388:Muscular Dystrophy, Duchenne / Q000097:blood / Q000503:physiopathology / Q000628:therapy*; D017063:Outcome Assessment, Health Care / Q000379:methods*; D015203:Reproducibility of Results; D033581:Stem Cell Transplantation / Q000379:methods; D016138:Walking / Q000502:physiology
chemical_list: D015415:Biomarkers