A new era in the management of Duchenne muscular dystrophy

Abstract

The management of Duchenne muscular dystrophy (DMD) has changed considerably over the last few decades. Standards of care have recently been updated, based on systematic reviews of the literature and structured, case-based consensus discussions of experts. Besides addressing muscular function, these recommendations cover most areas of organ involvement and psychosocial issues. Studies employing animal models investigating basic disease mechanisms have increased considerably. Development of valid functional outcome measures enabled high-evidence, clinical trials in males with DMD. Stop codon readthrough with ataluren has revealed some effect in patients with moderate disability and has been approved for males with suitable mutations who are still ambulant. Exon 51 skipping with eteplirsen demonstrated a structural and functional effect in a small group of patients and received restricted approval in the USA. Further trials investigating a broad range of mechanisms are underway. However, much more work is needed to develop more active treatments that stop disease progression. Likewise, the distribution of complex and expensive therapies to underprivileged patients and those in poorer regions must be improved. What this paper adds: Updated standards of care covering most clinical aspects of Duchenne muscular dystrophy (DMD) are available. Adequately controlled clinical trials have allowed initial approval of disease-modifying drugs for small groups of patients. Scientific, economic, and political efforts are needed to make effective therapies available more quickly. Effective therapies should be made available more quickly to patients in low-income regions.