Rare Diseases: Celebrating patient-centred innovation

As we celebrate Rare Disease Day 2021, let’s take some time to reflect on the positive side of things, especially after the terrible months we all experienced in 2020. New revolutionary treatments are becoming available, changing the lives of people living with rare diseases.

While 95 percent of rare diseases remain without an approved treatment, it is important to acknowledge the incredible scientific development in that area, where patients now have access to therapies that can literally transform their day-to-day lives.

The pandemic served as a magnifying glass for the existing challenges in the rare disease community: in research, clinical trial continuation, as well as the availability of treatments and care.

“The pandemic served as a magnifying glass for the existing challenges in the rare disease community: in research, clinical trial continuation, as well as the availability of treatments and care”

According to a survey from EURORDIS – the European organisation for rare diseases patients’ associations – 9 out of 10 people living with rare diseases experienced interruption of care because of COVID-19. Yet there are lessons to be learned from this crisis: from the potential of stronger cooperation to foster development and give faster access to therapies, to the opportunities brought about by digital health and telemedicine solutions.

The COVID-19 pandemic also confirmed the essential role played by collaborative and multi-stakeholder initiatives with patients at the very centre and demonstrated the important role they play in raising awareness of the very specific needs of rare diseases patients.

Amid all the recent multi-stakeholder initiatives, I think it is important to flag the cooperative approach EUCOPE has taken in leading or co-leading and partaking in several platforms gathering partners around the entire lifecycle of rare disease therapies. To name but a few, the recently-launched OD Expert Group brings together experts from the rare disease community (researchers, academia, patient representatives, members of the investor community and industry) with EURORDIS and EUCOPE at the steering wheel.

Meanwhile, the European Alliance for Transformative Therapies represents an informal group led by Members of the European Parliament to discuss with patients and the scientific community the impact gene and cell therapies can have on rare disease patients, transforming their lives and healthcare as we know it.

Last but not least, we work alongside policymakers, HTA bodies, payers, regulatory  agencies, clinicians, patient groups and academic experts as part of initiatives harnessing the potential of Real World Evidence (RWE) for rare disease patients and beyond: RWE4Decisions and TRUST4RD.

Having patients and patients’ associations represented in such multi-stakeholder platforms ensures that partners remember the core objective and mission of these initiatives: improving the life of people living with rare diseases and developing solutions that are centred around their needs.

Rare Disease Day represents a wonderful opportunity to look back and recognise the incredible efforts and achievements of patients, their associations, the scientific community and the industry partners in empowering rare disease patients.

Every year, the Black Pearl Award turns the spotlight on the most impactful initiatives, demonstrating the sheer determination of the rare disease community. As a proud partner of Rare Disease Day and the Black Pearl Award, EUCOPE and its members will continue the fight for better outcomes for patients.