In this Euractiv interview, Enrico Piccinini, Senior Vice President EU & International at Chiesi, calls for a comprehensive overhaul of the EU’s approach to rare disease research, advocating for a more integrated ecosystem that nurtures early-stage scientific discovery, enhances patient access, and ensures sustained investment in ultra-rare therapies.
Without such reforms, he argues, Europe may fall behind more agile global competitors in a strategically vital sector.
EV: What is your company’s commitment?
Enrico Piccinini: We started our dedicated rare disease division five years ago, and it now includes 700–800 people globally, focused on R&D, medical affairs, and awareness. While Chiesi as a company is over 90 years old, the rare disease unit was a deliberate strategic move by our board and the Chiesi family to address a major societal need.
Chiesi sees its role not just as a business, but as a contributor to broader social progress. Rare diseases are an area where a lot has been achieved, but far more remains to be done, particularly in ultra-orphan conditions where little or no treatment exists.
EV: Is Europe doing enough to support rare disease innovation?
Enrico Piccinini: Rare disease R&D is high-risk and highly fragmented. Often, the natural history of the disease is unknown. That makes early-stage research extremely difficult and costly.
So, we need to think in terms of building a functioning ecosystem; no one solution fits all. Europe took important steps over the last 25 years, with over 200 new treatments made available and millions of patients helped.
But now we must enhance policies, not weaken them. I’m concerned by discussions about reducing incentives, such as intellectual property and market protections. In the ultra-rare space, this could drive companies out of Europe or out of rare disease altogether.
EV: What specific incentives are needed to sustain rare disease R&D?
Enrico Piccinini: The most critical element is intellectual property protection. In a rare disease, you often need years just to understand the disease before you can begin developing a treatment. That’s not something you can fund or sustain without some guarantee of recovery on investment.
Also, because clinical trials involve so few patients, alternative approaches like biomarkers and patient-reported outcomes must be accepted as valid. These are essential for demonstrating safety and efficacy under rare disease conditions.
EV: Are new scientific platforms changing the game?
Enrico Piccinini: Yes. When I started 25 years ago, we mostly had small molecules or enzyme replacement therapies. Now we see gene therapy, gene editing, and more. One major area we are exploring is how to cross the blood-brain barrier.
Many rare diseases have a neurological component, and current treatments can’t reach the brain. If we can overcome that, it would be a complete breakthrough. It’s still early, but we’re investing heavily in that direction and hoping it will pay off in the coming years.
EV: What role does basic research play, and is there enough of it?
Enrico Piccinini: Basic research is crucial. Without understanding the underlying biology, you can’t begin to develop therapies. That’s why we launched our ‘Find for Rare’ research grant programme. The quality of the submissions far exceeded expectations, which shows there is talent, but they lack support.
Our goal isn’t just to fund a few projects, but to put a spotlight on early-stage science and attract public funding, including from national and European programmes.
EV: How can we overcome the “valley of death” in translational research?
Enrico Piccinini: We need earlier engagement between researchers, regulators, and payers. If we define what kind of evidence is needed from the start, we avoid wasting years or millions on paths that won’t lead to approval or access.
At Chiesi, we try to support this through our research grants and by sharing our regulatory expertise with grantees. But in the future, this should be the norm, embedded in the system. Patient-reported outcomes are also part of this. While still gaining acceptance, they must be recognised as valid and scientifically robust. They reflect real-life impact.
EV: Do you support more public-private collaboration?
Enrico Piccinini: Absolutely. Basic science is high-risk and should be supported with public funding. Then companies like ours can take on the task of translating that science into patient-facing treatments.
A hybrid model where public and private players collaborate, especially early on, would be ideal. We hope to see this reflected in the EU’s new Multiannual Financial Framework (MFF), where joint funding mechanisms could really make a difference.
EV: What about the broader innovation environment? How does Europe compare globally?
Enrico Piccinini: Europe is falling behind. We’ve always been in competition with the U.S., but now we also face rising players like China, India, and the Middle East. And while Europe still has strong scientific infrastructure, excellent centres, universities, and clinical trial networks, the environment is less attractive for investment.
Venture capital is far weaker than in the U.S. We need to create an ecosystem that incentivises staying and investing in Europe. Otherwise, the research and patients will move elsewhere.
EV: Is Europe doing enough to improve access to rare disease treatments?
Enrico Piccinini: Access is a key challenge. Patients should not be treated differently based on where they live, but today we see wide disparities across Europe. The new EU Health Technology Assessment (HTA) Regulation is a step in the right direction.
A joint clinical assessment should help harmonise access, provided it isn’t duplicated by national authorities, which would only delay things further.
We also need proactive tools like horizon scanning and early engagement with payers during drug development to help countries prepare.
EV: What are the barriers to timely diagnosis?
Enrico Piccinini: Diagnosis can take years. Rare diseases often affect multiple organs, so single-specialist approaches are insufficient. Multidisciplinary teams, and even telemedicine, can accelerate diagnosis. Newborn screening is another powerful tool. When appropriate, it allows for early treatment, which can change a child’s life.
The cost of screening has dropped dramatically, and countries like Italy are advancing. But others lag behind.
There’s now growing societal support for newborn screening, which wasn’t the case 20 years ago. We just need to ensure it’s implemented responsibly, with full respect for data protection and patient privacy.
EV: What’s missing from the EU pharmaceutical package?
Enrico Piccinini: We risk missing a once-in-a-generation opportunity. One of the package’s original pillars was rare and ultra-rare diseases, but that focus has weakened. The proposed changes don’t go far beyond the previous system and, in some cases, even reduce incentives. This won’t drive innovation where it’s most needed.
We need a clear vision for Europe to remain a leader in rare diseases and innovation more broadly. That requires bold choices, not just on policy, but on ambition.
EV: If you could ask EU policymakers one thing, what would it be?
Enrico Piccinini: Don’t erode what’s already fragile. Create a true ecosystem, one that supports innovation, enables access, and puts Europe back at the forefront of science. Competitiveness, patient care, and scientific excellence all go hand in hand. Health and prosperity are not separate; they are mutually reinforcing.
[Edited By Brian Maguire | Euractiv’s Advocacy Lab ]
