The collective burden of rare diseases is too high

Chiesi Group is committed to building an innovation-driven environment that increases equitable access to therapies and improves the quality of life for people living with chronic and rare diseases in Europe

By Enrico Piccinini

Enrico Piccinini is Head of Europe & International at Chiesi Global Rare Diseases

03 Apr 2024

There is an urgent need to accelerate and broaden access to therapies for rare diseases in the EU and close inequity gaps between countries. The average time to availability – from marketing authorization to reimbursement – for orphan products is 625 days, nearly four months slower than the average for all products. This leaves patients with rare diseases without a potentially life-saving or life-changing treatment. 

As a private, family-organisation, the Chiesi Group’s mission has been to improve people’s quality of life and act responsibly towards both the community and the environment. In 2020, Chiesi Global Rare Diseases started its journey applying a deliberate and careful approach to the research, production and commercialisation of our innovative products and services. Four years later, we can count a portfolio of 10 commercialised products worldwide and an increasing presence in different therapeutic areas, such as Lysosomal Storage Disorders, Immunology, Haematology, Dermatology, Ophtalmology and endo-metabolic diseases. 

2024 is a watershed moment for patients - a year that represents an unprecedented opportunity to forge a future where rare diseases are not just recognised but are integral to the European and global agenda. Our mission is clear: to ensure early and equitable access to treatments so that no one with a rare disease is left behind while acting responsibly towards both the patient community and the environment.  

Reducing the Burden of Rare Diseases 

We are resolute in our vision to alleviate the burdens faced in the rare disease community by providing innovative solutions that address debilitating unmet needs. We commissioned the  report Rare Disease Burden of Care and the Economic Impact on Citizensto quantify the societal impact relative to the significant stress faced by rare disease patients and trigger action in Europe. 

Overall, the cost burden on rare disease families is significant. The indirect costs (caregivers, secondary treatments, travelling etc) borne by families rise to an average of 45% when no treatment is available. In the absence of any treatment options, the overall economic burden increases by 28% per rare disease patient per year. These are significant sums added to the already increasing cost-of-living in Europe. 

We want to encourage a more granular way of thinking about rare diseases, and how to resolve them in future policies and commitments. There are clear positive returns from rare disease therapies to society, justifying an increase in government investment in rare diseases, not only for R&D but for early diagnosis, including newborn screening and timely treatment. The sooner patients are diagnosed and put on available treatment, the more society and healthcare systems will benefit.  

A Shared Vision   

Developing medicines that treat rare diseases is already an expensive, complex, and risky endeavour meaning that developers require flexible and predictable incentives that reward their breakthrough efforts. In this context, the current revision of European pharmaceutical legislation offers the crucial opportunity to enhance competitiveness and stimulate continuous investment and innovation in Europe, including technology for the early diagnosis of rare diseases. 

In tandem with our industry partners and the patient community, we have been working on distinctive proposals to improve the EU ecosystem for rare diseases and make it more attractive for investments in areas of unmet medical needs. Policymakers must recognise the distinct characteristics of developing rare disease treatments and work towards harmonising an environment that encourages orphan drug development in Europe.  

We understand there is no single solution or policy option that will solve the 95% problem of rare diseases without a treatment. This requires an ecosystem that looks at both the full patient experience and the full product development cycle. Overcoming the challenges faced by people living with rare diseases will require action at the local, national, and European levels by a range of stakeholders. A new comprehensive EU Rare Disease Action Plan that brings together policy areas, connects experts and pools resources would help create the innovative ecosystem required to address the unmet needs and inequalities faced by those living with a rare disease.   

Chiesi is committed to every single life thus we are available to continue a constructive and transparent dialogue on these issues at all levels. A patient-centric policy agenda can assist in bringing about the innovation needed to improve diagnosis and increase equitable access, while keeping the region competitive for investments. We know that the more treatments available translate to a greater quality of life for patients and their families and benefit the healthcare system at large. 

Making a Rare Difference 

Living with a rare disease is a full-time job that can be physically, mentally, financially and emotionally exhausting. That is why we devote ourselves daily with patients, clinicians, and researchers to translate scientific expertise into therapies that benefit those living with a rare disease. Currently, Chiesi Global Rare Diseases re-invests 28% of its revenues back into research and development and we plan to add more. We do this because we believe in Europe, believe in the benefits of innovation, and believe that doing the right thing for the patient is the same as doing what is right for the business. 

From research to production to access, we are committed to making a difference and reducing the impact of rare diseases on patients, families and healthcare systems. We urge all stakeholders to come together in partnership, pledging to create a predictable ecosystem that supports early diagnosis, rewards innovation, improves access and fosters care for the 30+ million people living with a rare disease in Europe. 

Chiesi Global Rare Diseases is a business unit of the Chiesi Group established to deliver innovative therapies and solutions for people living with rare diseases. As a family business, Chiesi Group strives to create a world where it is common to have a therapy for all diseases and acts as a force for good, for society and the planet. The goal of the Global Rare Diseases unit is to ensure equal access so as many people as possible can experience their most fulfilling life. The unit collaborates with the rare disease community around the globe to bring voice to underserved people in the health care system. 

Read Chiesi’s report “Rare disease burden of care and the economic impact on citizens in Germany, France and Italy” here.