Treatmentsfor RYR1-related disorders (Protocol)

Journal article

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

1. To assess whether the interventions, compared with placebo or standard of care, change the outcome of RYR1‐related diseases.

2. To assess whether the interventions, compared with placebo or usual care, change the expression of the disease state in patients with RYR1‐related diseases.

3. To identify a set of standardised outcome tools to be used in future studies.

Authors: Raga, S; Voermans, N; Perez-Neri, I; Dowling, J; Jungbluth, H

• Publication status: Published
• Peer review status: Peer reviewed
• Publisher: Wiley
• Journal: Cochrane Library
• Volume: 2024
• Issue: 12
• Article number: CD014439
• Place of publication: England
• Publication date: 2024-12-10
• DOI: 10.1002/14651858.cd014439
• EISSN: 1465-1858
• ISSN: 1465-1858
• Pmid: 39655671
• Language: English