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

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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.