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Review
. 2021 Dec 7:12:759994.
doi: 10.3389/fgene.2021.759994. eCollection 2021.

Lessons Learned From Translational Research in Neuromuscular Diseases: Impact on Study Design, Outcome Measures and Managing Expectation

Georgia Stimpson  1 , Mary Chesshyre  1   2 , Giovanni Baranello  1   2 , Francesco Muntoni  1   2
Affiliations
Review

Lessons Learned From Translational Research in Neuromuscular Diseases: Impact on Study Design, Outcome Measures and Managing Expectation

Georgia Stimpson et al. Front Genet. .

Abstract

Spinal Muscular Atrophy (SMA) and Duchenne Muscular Dystrophy (DMD), two of the most common, child onset, rare neuromuscular disorders, present a case study for the translation of preclinical research into clinical work. Over the past decade, well-designed clinical trials and innovative methods have led to the approval of several novel therapies for SMA and DMD, with many more in the pipeline. This review discusses several features that must be considered during trial design for neuromuscular diseases, as well as other rare diseases, to maximise the possibility of trial success using historic examples. These features include well-defined inclusion criteria, matching criteria, alternatives to placebo-controlled trials and the selection of trial endpoints. These features will be particularly important in the coming years as the investigation into innovative therapy approaches for neuromuscular diseases continues.

Keywords: duchenne and becker muscular dystrophy; inclusion criteria; matching criteria; spinal muscular atrophy; translational research; trial design.

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Conflict of interest statement

GB has received consultancy honoraria from AveXis, Roche, Biogen, PTC, and Sarepta Therapeutics. GB has received speaker honoraria from AveXis, Roche and PTC. FM is supported by the NIHR Great Ormond Street Hospital Biomedical Research Centre and has received speaker and consultancy honoraria from Sarepta Therapeutics, Avexis, PTC Therapeutics, Roche and Pfizer. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

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