Swiss researchers have undertaken preclinical work to pharmacologically treat one of the forms of myopathy linked to the ryanodine receptor type 1 (RYR1) :
- the model used for this research was a composite heterozygous mouse for two pathogenic variants of the RYR1 gene (p.Q1970fsX16 and p.A4329D)
- these mice were treated for 15 weeks with 0.05 mg/kg/d of 5-aza-2′ deoxycytidine, a nucleoside-derived compound already approved by the FDA for another indication,
- the functional benefits observed were very encouraging, particularly in fast-twitch muscle fibres.
This work constitutes an initial proof of concept and a prelude to a possible therapeutic trial with this compound.
