COVID-19 and rare diseases: Lessons learned
In the context of the coronavirus pandemic and the development of vaccines, several articles and studies have been published reflecting on the consequences of COVID-19 on rare disease patients across Europe and worldwide, as well as the lessons learned and better practices for the future.
EURORDIS has published a statement recalling that according to the survey it conducted among rare diseases patients on their perspectives on the pandemic, essential treatment and care was severely disrupted for 84% of people living with a rare disease in Europe, while 3 in 10 found these interruptions to be life-threatening. However, while the pandemic has had a severe impact on patients with rare diseases, the statement also highlights that the fast development of vaccines against COVID-19, which are mainly mRNA vaccines, was made possible thanks to decades of translational research and gene editing techniques developed to treat rare genetic conditions. On the other hand, the need for data and information sharing among European countries to better treat and understand COVID-19 cases has also prompted the launch of the COVID-19 Clinical Management Support System across Europe, based on the experience with the European Reference Networks on rare diseases.
These coordinated actions at the EU level, often inspired by efforts deployed in the rare disease field, have offered an opportunity for change from COVID-19 but are also promising for the development of rare disease treatments. In this regard, to expand European collaboration and solidarity, the EURORDIS statement calls for an EU joint procurement system for rare diseases. Indeed, the European Reference Networks already provide an infrastructure to facilitate the diagnosis, care and treatment, and the development of disease registry systems will help for data collection and to assess potential therapies. EURORDIS is also encouraging the wide and continuing use of telemedicine, beyond the restrictions imposed during the pandemic. According to the survey, telemedicine has proved to be efficient for rare disease patients in the management of their condition and has helped expand access to care, including across borders, and should thus be considered as a suitable solution for rare disease treatment.
Increased cooperation and solidarity among the rare disease community during the pandemic is also manifesting itself through the creation of rare disease advocacy groups, such as the Action for Rare Disease Empowerment (ARDEnt). ARDEnt members came together to shed light on the unseen impact of the pandemic on people living with rare conditions, mainly in the United Kingdom. The group has published a report entitled “Making the unseen seen”, revealing the impact of the pandemic on every stage of the patient journey, from diagnosis to eventual management, while providing recommendations for the future. The report focuses on three themes, including diagnostic delay, health and social care coordination as well as access to treatment and productive research and drug development.
At the international level, a new study has been published in the Orphanet Journal of Rare Diseases to highlight the particular impact of COVID-19 on rare disease patients. The aim of this study is to assess the hospital mortality patterns in the rare disease and the general populations during the COVID-19 and the SARS pandemics in Hong Kong. The study revealed that rare disease patients had an adjusted 3.4 times odds of COVID-19-related hospital mortality compared with that of the general population. With regard to SARS, while age-related increase in mortality was also observed for the general population, the pattern observed in the rare disease population was significantly different, with a 12.5 times higher SARS-related mortality observed in rare disease patients under 18 years old. Rare disease is thus one of the risk factors associated with increased hospital mortality during the COVID-19 and SARS pandemics in Hong Kong. The findings of the study highlight the need for health care planning and rare disease prioritisation for the future. Indeed, the disregard of the existing differences in healthcare needs and vulnerabilities between the rare disease and the general populations would pose additional risk of infection, and would undermine the broader COVID-19 response.
This proven specific vulnerability of rare disease patients towards COVID-19 makes them a priority for a third dose of vaccine, especially for people suffering from certain immune conditions. Indeed, according to the figures of the French Haute Autorité de Santé, antibody response after two doses was insufficient in transplant recipients (varied between 17% and 45%), dialysis patients and people taking an immuno-suppressive treatment. With the spreading of the highly contagious Delta variant, a third dose of vaccine seems necessary to further protect transplant recipients, dialysis patients, patients taking immuno-suppressants and people with cancer and severe immune deficiency, including those living with a rare disease. In light of these findings, France and Israel have already begun handing third shots of the two-dose vaccines to cancer and other immunocompromised patients, and EURORDIS is calling upon EU Member States and all countries to make the third dose a priority for people living with certain immune conditions.
