Interview by Jade Williams
Enrico Piccinini has been Senior Vice President, EU & International, Rare Diseases, Chiesi Group, since November 2019, where he leads a team that works to make treatments available for rare and ultra-rare diseases. He is a member of various biotech, R&D and orphan drug groups and associations, where he plays an active role, including leading the Farmindustria National Working Group on Rare Diseases in Italy since 2022.
Prior to his time at Chiesi, he held a long tenure in Genzyme and Sanofi Genzyme in a variety of sub-regional and regional roles, both functional and business, leading his team through several launches and sustained business growth in orphan and other specialty care diseases.
When you started out in your career, what were your initial aspirations, and how has your professional journey evolved in relation to them?
I can honestly say that when I started my career in the rare disease pharmaceutical sector, not having a medical background, I was simply driven by a deep curiosity and admiration for the incredible research and science behind developing life-saving therapies. I could not imagine the profound impact these treatments have – or the powerful stories behind them. I’m still astounded each day when listening and meeting with patients and learning about their journey. When you work in rare diseases, the learning never stops.
What are the key challenges in incentivising research and investment for rare diseases, and how do you think they can be addressed?
The Chiesi Global Rare Diseases Unit was launched only five years ago, and in that short time, we’ve developed our portfolio through R&D and acquisitions to include 10 treatments that address rare and ultra-rare conditions worldwide.
Despite huge progress, rare diseases remain unchartered territory and pose challenges for drug developers and policymakers alike. Developing medicines that treat rare diseases is already an expensive, complex and risky endeavour. The small size of the population makes research into rare diseases a daring venture.
Innovation in life sciences is the foundation of progress and a key driver of competitiveness today. To encourage innovation in this uncertain area of research, Chiesi and other rare disease treatment developers need strong and predictable incentives. They also need regulatory data protection that rewards these breakthrough efforts and encourages further research and development to address unmet needs and patient outcomes. Beyond this, support mechanisms for basic research and fostering public-private partnerships would help increase R&D activities in underserved areas.
What specific challenges do rare disease patients in low- and middle-income countries face, and what more can the industry do to overcome these issues?
Each country and region faces unique challenges in addressing the needs of people living with rare diseases (PLWRD) in their community, but common challenges in LMICs remain, such as limited health budgets and limited availability of specialised services, resources and knowledge. This results in patients around the world often struggling to access appropriate treatments.
While industry and NGOs have spearheaded multiple initiatives such as donation schemes and screening programmes, these are typically unsustainable in the long term without political support. Discussions around access to rare disease treatments require a rare disease lens, where solutions are tailored to overcome nuanced access challenges throughout the patient and product pathway. This involves creating the right conditions to ensure patients can receive these treatments while supporting their long-term availability in a sustainable way.
Collective action using a multi-stakeholder approach is the key to ensuring that the needs of patients and their families are met in every part of the world. It’s important that rare diseases remain a public and political priority. The upcoming World Health Assembly Resolution on Rare Diseases – fingers crossed – should galvanise a global health prioritisation and action plan for rare diseases, offering hope and improved access to diagnosis and treatment to PLWRD worldwide.
There has been a growing demand for an EU rare diseases action plan. Why is this something that the sector needs, and what will it take to make this a reality?
To really harness the existing strengths of Europe’s rare diseases and life sciences sector, an EU Action Plan for Rare Diseases is needed. The good news is that Europe already has several national plans to build upon even if many vary or have expired across the continent.
An update to national plans is required but the EU Commission should work to unify the Member States and consolidate a comprehensive vision prioritising faster diagnosis, access and treatment. To make it a reality requires the political will and the proper allocation of resources. Healthcare should be viewed as an investment considering the high value it brings to individual patients and, more broadly, to health systems and society overall.
An Action Plan will support the delivery of broader EU priorities, while bolstering the competitiveness of the EU Single Market, something top of mind for all EU policymakers nowadays. It would also enable Europe to stay at the forefront of rare disease R&D and treatments, and in doing so, stimulate spill-over innovations in the wider life sciences sector, supporting more patients. A pan-European solution would demonstrate that these 36 million citizens are not alone and would deliver transformational value to patients and families across Europe.
Just how important do you think it is to consider societal perspectives when assessing the value of drugs, particularly when it comes to orphan indications?
People living with rare diseases and their families face significant burdens, including financial, due to loss of patient productivity, caregiver burden, home modifications, costs of secondary treatments, travel and accommodation. There is a substantial need to factor in these societal perspectives in the assessment of orphan drugs. Many national assessments are designed to look at cost-effectiveness without sufficiently factoring rarity and the need for real-world evidence.
Payers should consider the burden of rare diseases and adopt more flexible payment models to allow for timely access to therapies. There has been increasing support for developing and implementing value frameworks, which capture benefits beyond health gains traditionally measured in HTA procedures like the quality-adjusted life year, but there is still work to do. Greater patient involvement and decision-making in assessment is needed and we hope that the implementation of the new EU HTA procedure will bring a paradigm shift in improving a multi-factorial patient centricity in the value assessment of orphan drugs.
At Chiesi, we’ve conducted research on the economic burden of care for rare diseases in the US and EU which opens the door to a more granular way of thinking about rare diseases. In the EU alone, Chiesi’s research found that the average cost burden per patient per year is approximately 15 times greater than high-prevalence diseases, with the economic burden increasing by 28% in the absence of treatment options. Through these studies, we’ve found that accelerating access to treatments for rare diseases has the potential to move the burden away from families and to relieve incremental cost increases over time based on the savings they deliver. In honour of this year’s Rare Disease Day, it’s important to highlight that there can be no sustainable movement towards equity without increasing patient engagement and leading from the patient perspective.
What’s a key lesson you’ve learned from working in this industry that you think would be valuable for any leader to know?
What I have learnt is that passion is the key. There is no useful science, no successful organisational framework, no best management practice that can help achieve the end goal apart from passion.
Passion creates dedication, a sense of urgency, entrepreneurial courage and individual commitment. In the end, to make a substantial impact on the lives of patients, you must focus on people. People are the lifeblood of an organisation and Chiesi is dedicated to improving the lives of people – patients, colleagues, stakeholders but first and foremost, human beings. This is what it’s all about.
