2021: A year of great challenges and unique opportunities for the rare disease community
While the past year saw great challenges for the rare disease community, notably with COVID-19 continuing to exert a significant burden on people living with a rare disease, it was also the year of unique opportunities and winds of change at the European and international levels, culminating in the adoption of the first UN Resolution on people living with a rare disease.
A survey organised by EURORDIS and conducted among rare diseases patients revealed that during the COVID-19 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.
A new study published in the Rare Disease and Orphan Drugs Journal also explains how the ambition of the International Rare Diseases Research Consortium (IRDiRC) by 2027 to provide diagnosis and treatments to rare diseases patients within one year of coming to medical attention has been challenged by the COVID-19 pandemic. The study shows that patients have faced issues in accessing care, clinical trials and diagnostic paths. The study reveals that research in the field of rare diseases was particularly impacted, with resources and funding reallocated to tackle the pandemic and the inability to conduct clinical trials due to restrictions. In order to achieve its goal to enhance therapies for rare disease patients, the IRDiRC recommends that funding bodies maintain investment in rare diseases and take advantage of advancements spurred by the COVID-19 pandemic to stimulate even better research for the benefit of rare disease patients.
Indeed, while the COVID-19 presented unprecedented challenges, there are lessons learned from the pandemic that can benefit rare disease patients. The development of mRNA vaccines is promising for the treatment of rare diseases, while the increased data and information sharing at the European and international levels can also present opportunities for rare disease patients.
In 2021, increased cooperation and campaigns led by the rare diseases community helped overcome major challenges and allowed key achievements in the field of rare diseases. The publication of the Rare 2030 Recommendations, presenting the conclusions of the Rare 2030 Foresight Study initiated by the European Parliament and co-funded by the European Commission Pilot Project and Preparatory Actions Programme, led to the adoption of the EC’s Strategy for the rights of persons with disabilities 2021-2030. At the international level, the campaign led by Rare Diseases International, EURORDIS and the NGO Committee for Rare Disease allowed the adoption of the first UN Resolution on people living with a rare disease and their families.
Looking to 2022, the French Presidency of the Council of the European Union could be a window of opportunity for the rare disease community in Europe. The ECRD 2022 has been designated as an official event of the 2022 French Presidency, demonstrating a strong will of France to put rare diseases at the agenda and priorities of the EU. This event will help bring all stakeholders together to reflect on and shape rare disease policies in Europe and represents a unique opportunity to consider and build an EU policy framework for rare diseases as recommended in the Rare2030 study. On 28 February 2022, France’s Ministry of Health and Solidarity is organising a high-level conference entitled “High-level conference: Care and innovation pathways for a European rare diseases policy”. This conference, to be held on Rare Disease Day, will bring together political figures from across Europe to set out recommendations for changes to European legislation on rare diseases. Following this announcement, EURORDIS issued a statement welcoming France’s commitment to a European Action Plan for Rare Diseases during its Presidency of the Council of the European Union. Yann Le Cam, Chief Executive Officer at EURORDIS said " Today, France has taken an urgent and necessary step to create an ecosystem for rare diseases that will have benefits for all European citizens. No country in Europe can work slowly in the silos that currently exist without an overarching person-centred and needs-led legislative framework to link the different legislative areas and Member States' actions.”
