COVID-19 and rare diseases: reflections and recommendations by the International Rare Diseases Research Consortium

Aim: The ambitious goals set by the International Rare Diseases Research Consortium (IRDiRC) by 2027 to fulfill the vision of providing diagnosis and treatments to rare diseases (RDs) patients within one year of coming to medical attention have been challenged by the COVID-19 pandemic. This article aims to identify the needs and challenges of the RD community during the COVID-19 pandemic and to understand whether the pandemic would hinder achievement of the IRDiRC goals. Methods: A survey was developed in 2020 to answer key issues related to the potential impact of the pandemic on RD research and distributed to all 96 IRDiRC Constituent Committee members and Scientific Committee experts. Results: The overall participation rate was 46%, with the highest response rates from the Patient Advocates, Funders, and Therapies Committees. Most respondents reported impacts on various aspects of RD research including decreased access to healthcare, clinical trials, and diagnostics for patients, as well as disrupted operations for patient and funding organizations and restrictions in access to workplaces for researchers. Despite these challenges, there was overall optimism that the IRDiRC goals could still be met by 2027, although there would be an inevitable slowdown in RD research activities. Conclusions: Maintaining funding for RD research and implementing new workflows to ensure that patients have continued access to diagnostics, therapies, and clinical trials will be key to ensuring that IRDiRC meets it goals by 2027.