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

Chiuhui Mary Wang,David A Pearce,Chun-Hung Chan,Lucia Monaco,Daria Julkowska

doi:10.20517/rdodj.2021.03

Abstract

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.

Highlights

Maintaining funding for rare diseases (RDs) research and implementing new workflows to ensure that patients have continued access to diagnostics, therapies, and clinical trials will be key to ensuring that International Rare Diseases Research Consortium (IRDiRC) meets it goals by 2027
The COVID-19 pandemic’s effects on biomedical research and patient communities have been widely examined[1,2,3,4,5,6,7], here we report the outcome of a survey launched by the International Rare Diseases Research Consortium (IRDiRC) among its members and scientific experts
Launched in 2011, today IRDiRC gathers 59 member organizations supported by the expertise of three scientific committees[11,12]

Summary

Introduction

The COVID-19 pandemic’s effects on biomedical research and patient communities have been widely examined[1,2,3,4,5,6,7], here we report the outcome of a survey launched by the International Rare Diseases Research Consortium (IRDiRC) among its members and scientific experts. The survey provides a unique combined perspective of IRDiRC’s key stakeholders, namely funders, patients, and companies, united in the research effort to tackle rare diseases (RDs) globally. IRDiRC already demonstrated that by global, collaborative efforts ambitious goals could be achieved and in 2017 set up an aspiring vision of enabling all people living with a RD to receive an accurate diagnosis, care, and available therapy within one year of coming to medical attention[12,13,14]. IRDiRC members and experts are actively engaged in task forces tackling specific topics aimed at developing solutions to achieve these goals[16]

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