Treatments for RYR1-related disorders

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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Publication Details

Journal
Cochrane Database of Systematic Reviews
Published
2024-12-10
DOI
https://doi.org/10.1002/14651858.cd014439
Citations
1
Primary Topic
Muscle metabolism and nutrition
Type
article
Field-Weighted Citation Impact
0.33
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article

Treatments for RYR1-related disorders

Jo M. Wilmshurst, Nicol Cornelia Voermans, Giovanni Baranello, Sharika Raga et al.
1 citations
Cochrane Database of Systematic Reviews
Muscle metabolism and nutrition
0.33
article

Treatments for RYR1-related disorders

Jo M. Wilmshurst, Nicol Cornelia Voermans, Giovanni Baranello, Sharika Raga, Heinz Jungbluth, John E. Dowling, Iván Pérez‐Neri, Laurent Servais, Alice Tillema
article en
1 citations

Abstract

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.

Cochrane Database of Systematic ReviewsVol. 2024(12)
St Thomas' Hospital (GB), Radboud University Nijmegen (NL), University of Cape Town (ZA), University of Toronto (CA), Guy's and St Thomas' NHS Foundation Trust (GB), Hospital for Sick Children (CA), Radboud University Medical Center (NL), University of Oxford (GB), Instituto Nacional de Rehabilitación (MX), SickKids Foundation (CA), Oxford BioMedica (United Kingdom) (GB), University College London (GB)
Good health and well-being
Openalex Percentile: Top 38%
Muscle metabolism and nutrition
0.33
DOIOpen Access PDFOpenAlex
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