Raga Sharika, Voermans Nicol, Perez-Neri Ivan, Dowling Jim, Jungbluth Heinz, Baranello Giovanni, Servais Laurent, Tillema Alice, Wilmshurst Jo
Department of Paediatric Neurology, University of Cape Town, Cape Town, South Africa.
Neurology, Radboud University Medical Center, Nijmegen, Netherlands.
Cochrane Database Syst Rev. 2024 Dec 10;12(12):CD014439. doi: 10.1002/14651858.CD014439.
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.
这是一项Cochrane系统评价（干预措施）的方案。目标如下：主要目标分析与安慰剂或标准治疗相比，药物或其他干预措施（如特殊饮食、运动计划）对RYR1相关疾病的益处和危害，这些疾病包括永久性肌病和间歇性（发作性）表现（运动性肌痛和横纹肌溶解），目的分别是改善运动和呼吸功能及/或减少发作频率。次要目标评估与安慰剂或标准治疗相比，干预措施是否会改变RYR1相关疾病的结局。评估与安慰剂或常规治疗相比，干预措施是否会改变RYR1相关疾病患者的疾病状态表现。确定一套未来研究中要使用的标准化结局工具。
