The Impact of COVID-19 on People Living with Rare Diseases and Their Families

摘要 新冠肺炎大流行对患有罕见疾病的人的影响尚不清楚。在过去的几年中 几周前，罕见疾病临床研究网络(RDCRN)的主要研究人员集体 设计了一项调查，可能支持对新冠肺炎影响的纵向评估。数据 RDCRN的管理和协调中心(DMCC)正在协调这一努力。收集到的数据 这项调查将有助于为未来的研究和罕见疾病(RD)的护理标准做准备。 社区反对新冠肺炎重新出现的潜在可能性。我们将进行基线调查，并计划 稍后收集后续数据。我们还将针对护理RD的医疗保健提供者进行一项调查 病人。这项研究的目标是：1)估计RD患者的比例 被诊断为新冠肺炎感染；2)描述新冠肺炎的特点和 RD患者的感染病程(包括治疗)；3)确定 由社会人口学变量和地理位置定义的患者，具有特殊的罕见疾病或 合并症受到更频繁的影响或经历更严重的感染；4) 了解罕见病的特定治疗方案与新冠肺炎之间的潜在相互作用 感染，特别是某些抗生素、免疫抑制或抗炎药物是否 与新冠肺炎感染的频率及其严重程度有关；5)了解主要关注的问题 与RD生活在一起的个人及其家人对新冠肺炎的尊重，并决定RDCRN如何 可以通过其专家网络、其联合体和在 与患者权益倡导团体合作；以及6)允许对同意以下条件的患者和家属进行随访 提供联系信息，并将调查中收集的信息与 RDCRN适用于参加RDCRN研究的患者。目标是招募5,000名参与者，但有 不是最大人口数，因为这项调查旨在建立一个登记。注册表将通过以下方式填充 由RD患者、父母或提供者视情况而定。收集的变量包括患者的人口统计数据(种族、 种族、出生日期、性别)，有关新冠肺炎感染的详细情况，以及大流行对获得 日常护理、特殊食品和家庭生活，包括居家订单对情绪和健康的影响 行为，以及相关的专业支持，以应对压力和焦虑。数据收集 还将使用工具来确定受访者中的死亡人数。我们已经实现了数据采集 工具在RedCap，并计划在2020年5月1日之前开始注册。选择符合以下条件的调查结果 RDCRN财团和PAG的重要性将定期返回社区。我们也 计划发起一项调查，目标是为RDS患者提供护理的医疗保健提供者。我们计划 在8-9月至少一次重复从RDS患者那里直接收集数据。

Abstract The impact of the COVID-19 pandemic on people who live with rare diseases is unknown. During the past few weeks, the principal investigators of the Rare Disease Clinical Research Network (RDCRN) have collectively designed a survey that may support a longitudinal assessment of the impact of COVID-19. The Data Management and Coordinating Center (DMCC) of the RDCRN is coordinating the effort. The data collected from this survey will aid in preparation for future studies and standard of care for the rare disease (RD) community against the potential re-emergence of COVID-19. We will conduct a baseline survey and plan to collect follow-up data later on. We will also conduct a survey targeting healthcare providers who care for RD patients. The objectives of the research are: 1)To estimate the proportion of RD patients who have been diagnosed with COVID-19 infection; 2)To describe the characteristics of the COVID-19 presentation and the course of the infection (including treatment) among patients with RD; 3)To determine whether subgroups of patients defined by sociodemographic variables and geographic location, with particular rare conditions or comorbidities have been affected more frequently or have experienced increased severity of the infection; 4) To learn about the potential interaction between specific treatment regimens for rare diseases and COVID-19 infection, and specifically whether certain antibiotic, immunosuppressive, or anti-inflammatory drugs are associated with the frequency of COVID-19 infection and its severity; 5)To learn about the main concerns that individuals who live with RD and their families have with respect to COVID-19, and determine how the RDCRN can respond by providing information and advice through its network of experts, its consortia, and in collaboration with patient advocacy groups; and 6)To allow follow-up for patients and families who agree to provide contact information, and linkage of information collected in the survey with data maintained by the RDCRN for patients enrolled in RDCRN research studies. The goal is to recruit 5,000 participants but there is not a maximum population as this survey is intended to establish a registry. The registry will be populated via by the RD patient, parent or provider as appropriate. Collected variables include patient demographics (race, ethnicity, date of birth, gender), details about COVID-19 infection, and the impact of the pandemic on access to routine care, special food items, and family life, including the impact of stay-at-home orders on mood and behavior, with associated demand for professional support to cope with stress and anxiety. The data collection tool will also be used to identify deaths among the respondents. We have implemented the data collection instrument in REDCap and plan to initiate enrollment by 05/01/2020. Select survey results that are deemed of importance by the RDCRN consortia and by the PAGs will be returned periodically to the community. We also plan to launch a survey targeting healthcare providers who provide care for patients with RDs. We plan to repeat the direct data collection from people who live with RDs at least once in August-September.