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Updated: Jun 5, 2025

Functional Characterization of Endogenously Expressed Human RYR1 Variants
Published on: June 9, 2021
Treatments for RYR1-related disorders
Sharika Raga1, Nicol Voermans2, Ivan Perez-Neri3
1Department of Paediatric Neurology, University of Cape Town, Cape Town, South Africa.
Objectives:
This is a protocol for a Cochrane Review (intervention). The objectives are as follows: Primary objective To analyse the benefits and harms of pharmacological or other interventions (e.g. special diet, exercise programme) compared with placebo or standard care for RYR1-related disorders, including both permanent myopathies and intermittent (episodic) presentations (exertional myalgia and rhabdomyolysis), with the aim to improve motor and respiratory function and/or to reduce the frequency of episodes, respectively. Secondary objectives To assess whether the interventions, compared with placebo or standard of care, change the outcome of RYR1-related diseases. To assess whether the interventions, compared with placebo or usual care, change the expression of the disease state in patients with RYR1-related diseases. To identify a set of standardised outcome tools to be used in future studies.
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