Emerging treatments for SMA
- Submission status
- Open
- Submission deadline
Spinal muscular atrophy (SMA) is a genetic disease characterised by deficiency of the motor neuron protein, SMN, that ultimately leads to weakness of voluntary muscles, including those responsible for breathing and swallowing. Much recent research in the SMA field has focussed on directly addressing the genetic cause of SMA. Gene replacement therapy using viral vectors can boost functioning SMN levels in patients, while therapies involving splicing mediators have been successful in increasing full length SMN2 transcription. In addition, further research has concentrated on preserving existing motor neurons and maintaining and increasing muscle strength. New trials are investigating whether combinations of both treatment styles have added efficacy.
This Collection welcomes original research that focuses on advancing treatments for SMA. In addition to manuscripts describing studies at discovery, pre-clinical and clinical trial stages, fundamental research into SMA with an aim to identify diagnostic and monitoring markers will also be considered.
Editors
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Matthew E. R. Butchbach, PhD
Division of Neurology, Nemours Children’s Hospital Delaware, Wilmington, Delaware, USA; Affiliated Professor, Department of Biological Sciences, University of Delaware, Newark, Delaware, USA; Assistant Professor, Department of Pediatrics, Thomas Jefferson University, Philadelphia, Pennsylvania, USA
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Toshio Saito, MD, PhD
Director, Division of Child Neurology, Department of Neurology, National Hospital Organization Osaka Toneyama Medical Center, Toyonaka, Osaka, Japan.
