New pharmacotherapies for genetic neuromuscular disorders: opportunities and challenges.

New pharmacotherapies for genetic neuromuscular disorders: opportunities and challenges. Expert Rev Clin Pharmacol. 2019 Jun 21;: Authors: Ricci F, Vacchetti M, Brusa C, Vercelli L, Davico C, Vitiello B, Mongini T Abstract Introduction Genetic neuromuscular diseases (NMDs) constitute a heterogeneous group of rare conditions, including some of the most disabling conditions in childhood. Over the last decade, early diagnosis, multidisciplinary care and anticipatory treatment strategies have improved survival and quality of life of several conditions. Recently, advanced technologies have greatly expanded preclinical and clinical research, and specific therapies have been introduced for three diseases, namely enzyme replacement therapy for Pompe disease (PD), gene expression modulation and gene therapy for Duchenne muscular dystrophy (DMD) and for spinal muscular atrophy (SMA). Area covered We here provide an overview of novel pharmacological approaches to the main NMDs, including DMD, SMA, X-linked myotubular myopathy, PD and myotonic dystrophy type 1 (DM1), with attention to both achievements and still unresolved therapeutic challenges. We conducted a selected review of relevant scientific reports in the last five years (2015-2019) identified through PubMed and Scopus. Additional information was derived from the web site of clinicaltrials.gov and from the authors' direct knowledge of research activities. Expert Opinion The last few yea...
Source: Pharmacological Reviews - Category: Drugs & Pharmacology Authors: Tags: Expert Rev Clin Pharmacol Source Type: research