Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2024 Dec 10;12(12):CD014439.
doi: 10.1002/14651858.CD014439.

Treatments for RYR1-related disorders

Sharika Raga  1 , Nicol Voermans  2 , Ivan Perez-Neri  3 , Jim Dowling  4 , Heinz Jungbluth  5 , Giovanni Baranello  6 , Laurent Servais  7 , Alice Tillema  8 , Jo Wilmshurst  1
Affiliations

Treatments for RYR1-related disorders

Sharika Raga et al. Cochrane Database Syst Rev. .

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.

PubMed Disclaimer

Conflict of interest statement

SR: received a grant through the Medical Research Council (UK) from 01/01/2020 to 31/12/2023 and a SAMRC researcher development award from 01/03/24 to 28/02/2025.

JW: national South African advisory board for Novartis; national South African advisory board for Sanofi Pasteur.

NV: member of advisory board for Dynacure until 01/01/2020; principal investigator for Unite‐CNM trial 2020 to 2022.

IP: none known.

JD: received a grant through the National Institutes of Health from 29/07/2020 to 31/05/2025; scientific advisory board member for RYR1 foundation.

GB: advisory board for AveXis 31/12/2020, advisory board for Biogen from 08/01/2020; contract with Hoffmann‐La Roche from 05/01/2023; consultant of advisory board Novartis Gene Therapies; advisory consultant for Pfizer; advisory board for PTC therapeutics 31/10/2016; advisory board for Sarepta Therapeutics 31/03/2018.

LS: consultant for Astellas Pharma; consultant and board member of Biogen; consultant for Dyne therapeutic; steering committee and board member of Hoffman‐La Roche; chair of the DSMB FibroGen; chair of the DSMB Lupin Pharmaceuticals Inc; consultant for Novartis; consultant for PTC therapeutics; board member of regenexBio; board member for Santhera; consultant for Sarepta therapeutics; consultant for sysnav.

HJ: advisory role on RYR1‐related disorders for Armgo Pharma Inc; scientific advisory board for Astellas Pharma.

AT: none known.

References

    1. Huang K, Bi FF, Yang H. A systematic review and meta-analysis of the prevalence of congenital myopathy. Frontiers in Neurology 2021;12:761636. - PMC - PubMed
    1. Kruijt N, Wijma J. Identification of a possible genetic background in patients with rhabdomyolysis due to neuroleptic malignant syndrome, serotonin syndrome and MDMA-related hyperthermia. https://www.crd.york.ac.uk/prospero/display_record.php?RecordID=115828 2018. [PROSPERO: CRD42018115828]
    1. Larach MG, Belani KG, Brandom BW, Capacchione J, Herlich A, Housey S, et al. Evidence to inform a recommendation on dantrolene availability for the treatment of malignant hyperthermia in anesthetizing locations. https://www.crd.york.ac.uk/prospero/display_record.php?RecordID=64696 2017. [PROSPERO: CRD42017064696]
    1. Dowling JJ, Arbogast S, Hur J, Nelson DD, McEvoy A, Waugh T, et al. Oxidative stress and successful antioxidant treatment in models of RYR1-related myopathy. Brain 2012;135(Pt 4):1115-27. [DOI: 10.1093/brain/aws036] - DOI - PMC - PubMed
    1. Lanner JT, Georgiou DK, Dagnino-Acosta A, Ainbinder A, Cheng Q, Joshi AD, et al. AICAR prevents heat-induced sudden death in RyR1 mutant mice independent of AMPK activation. Nature Medicine 2012;18(2):244-51. [DOI: 10.1038/nm.2598] - DOI - PMC - PubMed

MeSH terms

Substances

LinkOut - more resources