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.