Cellular and Molecular Life Sciences

, Volume 70, Issue 23, pp 4585–4602

Ongoing therapeutic trials and outcome measures for Duchenne muscular dystrophy

  • Alessandra Govoni
  • Francesca Magri
  • Simona Brajkovic
  • Chiara Zanetta
  • Irene Faravelli
  • Stefania Corti
  • Nereo Bresolin
  • Giacomo P. Comi
Review

DOI: 10.1007/s00018-013-1396-z

Cite this article as:
Govoni, A., Magri, F., Brajkovic, S. et al. Cell. Mol. Life Sci. (2013) 70: 4585. doi:10.1007/s00018-013-1396-z

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.

Keywords

Duchenne muscular dystrophy Clinical trial New therapeutic approaches Exon skipping Readthrough Outcome measures

Copyright information

© Springer Basel 2013

Authors and Affiliations

  • Alessandra Govoni
    • 1
  • Francesca Magri
    • 1
    • 2
  • Simona Brajkovic
    • 1
  • Chiara Zanetta
    • 1
  • Irene Faravelli
    • 1
  • Stefania Corti
    • 1
  • Nereo Bresolin
    • 1
    • 2
  • Giacomo P. Comi
    • 1
  1. 1.Neuroscience Section, Neurology Unit, Department of Pathophysiology and Transplantation (DEPT), Dino Ferrari CentreUniversity of Milan, IRCCS Foundation Ca’ Granda Ospedale Maggiore PoliclinicoMilanItaly
  2. 2.IRCCS Eugenio MedeaLeccoItaly