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

Abstract: The impact of the COVID-19 pandemic on people who live with rare diseases is unknown. During the past fewweeks, the principal investigators of the Rare Disease Clinical Research Network (RDCRN) have collectivelydesigned a survey that may support a longitudinal assessment of the impact of COVID-19. The DataManagement and Coordinating Center (DMCC) of the RDCRN is coordinating the effort. The data collectedfrom 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 tocollect follow-up data later on. We will also conduct a survey targeting healthcare providers who care for RDpatients. The objectives of the research are: 1)To estimate the proportion of RD patients who have beendiagnosed with COVID-19 infection; 2)To describe the characteristics of the COVID-19 presentation and thecourse of the infection (including treatment) among patients with RD; 3)To determine whether subgroups ofpatients defined by sociodemographic variables and geographic location, with particular rare conditions orcomorbidities 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-19infection, and specifically whether certain antibiotic, immunosuppressive, or anti-inflammatory drugs areassociated with the frequency of COVID-19 infection and its severity; 5)To learn about the main concerns thatindividuals who live with RD and their families have with respect to COVID-19, and determine how the RDCRNcan respond by providing information and advice through its network of experts, its consortia, and incollaboration with patient advocacy groups; and 6)To allow follow-up for patients and families who agree toprovide contact information, and linkage of information collected in the survey with data maintained by theRDCRN for patients enrolled in RDCRN research studies. The goal is to recruit 5,000 participants but there isnot a maximum population as this survey is intended to establish a registry. The registry will be populated viaby 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 toroutine care, special food items, and family life, including the impact of stay-at-home orders on mood andbehavior, with associated demand for professional support to cope with stress and anxiety. The data collectiontool will also be used to identify deaths among the respondents. We have implemented the data collectioninstrument in REDCap and plan to initiate enrollment by 05/01/2020. Select survey results that are deemed ofimportance by the RDCRN consortia and by the PAGs will be returned periodically to the community. We alsoplan to launch a survey targeting healthcare providers who provide care for patients with RDs. We plan torepeat the direct data collection from people who live with RDs at least once in August-September.