■RYR1的致病变体,该基因编码主要的肌浆网钙释放通道(RyR1),在兴奋-收缩偶联中起关键作用,是非营养不良性神经肌肉疾病最常见的遗传原因之一。我们最近进行了一项针对功能损害的问卷调查,疲劳,在整个公认的疾病谱中,RYR1相关疾病(RYR1-RD)患者的生活质量(QoL)。在以前的问卷调查中,我们采取了医学的观点,反映了神经学家和心理学家设计的研究方案。通过本研究,我们希望具体解决患者的观点。
■与受影响的个人一起,家庭成员,以及与RYR1-RD有关的倡导者,我们开发了一项在线患者调查,由227名患者或其父母/其他看护者完成(143名女性和84名男性,0-85岁)。我们邀请了12个人,根据年龄代表大多数患者群体,性别,种族,以及诊断的类型和严重程度,在2022年7月的国际研讨会上分享他们与RYR1-RD生活的个人经历。数据通过混合方法进行分析,同时对调查结果进行定量分析,并对推荐进行定性分析。
■从结合的定量和定性分析中获得的数据为六个主题提供了重要的见解:1)诊断;2)症状和病情的影响;3)身体活动;4)治疗;5)临床研究和研究;和6)期望。
■一起,这项研究为RYR1-RD光谱提供了独特的患者视角,相关疾病的影响,适当的身体活动和对未来治疗和试验的期望,因此,为未来的研究做出了重要贡献。
UNASSIGNED: Pathogenic variants of RYR1, the gene encoding the principal sarcoplasmic reticulum calcium release channel (RyR1) with a crucial role in excitation-contraction coupling, are among the most common genetic causes of non-dystrophic neuromuscular disorders. We recently conducted a questionnaire study focusing on functional impairments, fatigue, and quality of life (QoL) in patients with RYR1-related diseases (RYR1-RD) throughout the recognized disease spectrum. In this previous questionnaire study the medical perspective was taken, reflective of a study protocol designed by neurologists and psychologists. With this present study we wanted to specifically address the patient perspective.
UNASSIGNED: Together with affected individuals, family members, and advocates concerned with RYR1-RD, we developed an online patient survey that was completed by 227 patients or their parents/other caretakers (143 females and 84 males, 0-85 years). We invited 12 individuals, representing most of the patient group based on age, sex, race, and type and severity of diagnosis, to share their personal experiences on living with a RYR1-RD during an international workshop in July 2022. Data were analyzed through a mixed-methods approach, employing both a quantitative analysis of the survey results and a qualitative analysis of the testimonials.
UNASSIGNED: Data obtained from the combined quantitative and qualitative analyses provide important insights on six topics: 1) Diagnosis; 2) Symptoms and impact of the condition; 3) Physical activity; 4) Treatment; 5) Clinical research and studies; and 6) Expectations.
UNASSIGNED: Together, this study provides a unique patient perspective on the RYR1-RD spectrum, associated disease impact, suitable physical activities and expectations of future treatments and trials, and thus, offers an essential contribution to future research.