Background:Glycogen storage disease type III (GSD III) is a rare inherited disorder that results from a glycogen debranching enzyme deficiency.Objectives:The purpose of this research was to collect data on the signs, symptoms, and impacts of GSD III from the perspective of adult patients and caregivers of individuals with GSD III.Design:Online survey and qualitative interviews.Methods:Following institutional review board approval, adult patients and caregivers of children with GSD III were recruited through advocacy networks and clinical sites. If eligible, participants were consented, screened, and sent a survey and/or participated in a 60-min interview. The survey and interview included questions about family history, diagnosis, signs and symptoms, impacts, and management of GSD III. Conceptual models were developed following the analysis of results.Results:In all, 29 adults and 46 caregivers completed the online survey and/or the interviews with 73 survey and 19 interview respondents. Adults and caregivers reported digestive, musculoskeletal, growth and physical appearance, and cardiac signs and symptoms. Liver conditions were reported by most respondents (83%). Adults and caregivers frequently reported impacts such as difficulty keeping up with peers (77%) and difficulty exercising/difficulty with physical activity (53%). Hypoglycemia was frequently reported in both adults and children, with more than half reporting hospitalizations due to hypoglycemia. Caregivers focused on hypoglycemia when reporting signs/symptoms that most interfere with their child’s life and prevention of hypoglycemia as a desired outcome for an effective therapy. Adults most often reported muscle weakness as a top interfering symptom and the most important goal of a potential therapy. Impacts were also reported in activities of daily living, cognitive, emotional, work/school, and sleep domains.Conclusion:Individuals with GSD III experience a broad spectrum of symptoms and disease impacts. There is an unmet need for therapies that improve metabolic control, reduce the burden of dietary management, reduce fatigue and liver problems, and improve muscle strength and function.

中文翻译：

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III 型糖原累积病：评估疾病负担的混合方法研究

背景：III 型糖原贮积病 (GSD III) 是一种罕见的遗传性疾病，由糖原脱支酶缺乏引起。目的：本研究的目的是从以下角度收集有关 GSD III 的体征、症状和影响的数据设计：在线调查和定性访谈。方法：在机构审查委员会批准后，通过倡导网络和临床站点招募成人患者和 GSD III 儿童的护理人员。如果符合条件，参与者将获得同意、筛选并发送调查和/或参加 60 分钟的访谈。调查和访谈包括有关 GSD III 家族史、诊断、体征和症状、影响和管理的问题。对结果进行分析后，开发了概念模型。结果：总共有 29 名成年人和 46 名护理人员完成了在线调查和/或对 73 名调查对象和 19 名受访者的采访。成人和护理人员报告了消化、肌肉骨骼、生长和身体外观以及心脏体征和症状。大多数受访者（83%）报告了肝脏状况。成年人和护理人员经常报告受到影响，例如难以跟上同龄人（77%）和难以锻炼/身体活动困难（53%）。成人和儿童都经常报告低血糖，其中一半以上报告因低血糖而住院。护理人员在报告最干扰孩子生活的体征/症状时，重点关注低血糖，并将预防低血糖作为有效治疗的预期结果。成年人最常将肌肉无力视为最严重的干扰症状，也是潜在治疗的最重要目标。在日常生活、认知、情绪、工作/学校和睡眠领域的活动中也报告了影响。结论：患有 GSD III 的个体会经历广泛的症状和疾病影响。对于改善代谢控制、减轻饮食管理负担、减少疲劳和肝脏问题以及改善肌肉力量和功能的疗法的需求尚未得到满足。