Cochrane meta-analysis in preparation on therapies for RYR1-related myopathies

An international consortium of clinicians led by a South African neuropaediatrician has presented a protocol designed to analyse the impact of different therapeutic interventions in muscle-expressing diseases associated with abnormalities of the RYR1 gene:

  • the study will be based on the Cochrane methodology for meta-analysis of the literature on the subject,
  • 7 experts have been appointed to select, read and analyse the articles,
  • the field of investigation includes congenital myopathies associated with RYR1, as well as paroxysmal muscular manifestations such as rhabdomyolysis or exertional myalgia,
  • pharmacological or non-pharmacological treatments (physical training or others) will be taken into account.

It should be noted that this initiative comes in a field where there has never been a real controlled therapeutic trial.

 

Treatments for RYR1-related disorders. Cochrane Database. Raga S, Voermans N, Perez-Neri I et al. Syst Rev. 2024 Dec