Innovation is delivering therapies for people with rare diseases – but R&D needs support

Investment in R&D in Europe is vital if we are to tackle unmet medical needs, says Nathalie Moll

By Nathalie Moll

Nathalie Moll is Director General of the European Federation of Pharmaceutical Industries and Associations (EFPIA)

22 Feb 2023

To witness the impact discovering new treatments has on people’s lives, look no further than the fight against rare diseases. Advances in this field have transformed the lives of patients and their families and there is reason to hope for more to come.

The story of rare diseases also explains why mindful policymaking and sustained investment are essential to turn science into treatments, and why we must continually renew our commitment to supporting Europe’s research and development eco-system.

Today, there are more than 200 therapies available for rare diseases, and approximately 1,800 new products at various stages of development.

This article was commissioned as part of a series focused on Rare Disease Day 2023, in partnership with Takeda, Eurordis, Efpia and Eucope. Click here to read the full report

These include lifesaving and life improving therapies: medicines that improve clinical outcomes and quality of life for patients suffering from rare diseases. For example, for people living with haemophilia, new treatments aim to translate advances in gene therapy into a potential cure for the disease. Instead of regular, distressing intravenous treatments, a one-time gene therapy treatment could reduce patients’ risk of bleeding and curb pressure on health services.

History lessons

How did medicines for rare diseases, an area associated for decades with underinvestment and lack of hope, become one of the hottest areas in medical research?

Part of the answer can be found in mindful EU policy. The Orphan Medicinal Products (OMP) Regulation, introduced in the year 2000, was designed to address the barriers to progress in this area, including the high costs of innovation and inherently small returns.

“A recent study shows that Europe’s share of global medicines R&D has shrunk by a quarter in the last 20 years”

As the EU reviews its pharmaceutical legislation now, the suggestion of a narrower definition of unmet medical need risks putting a straitjacket on science and R&D in diverse disease areas, closing down many of these avenues of research. And that is worrying news for people living with rare diseases as, despite progress, to date there are still no therapies for 95% of rare diseases. This is why the innovative pharmaceutical industry supports the Rare Disease Moonshot which aims to bring public and private partners together to speed up research and deliver new therapies.

The OMP Regulation gave Europe a place in the history of rare disease research and its revision now will dictate its future. Europe’s progress cannot be taken for granted; hard-won gains can be easily lost in the face of fierce competition from other regions of the world. A recent study shows that Europe’s share of global medicines R&D has shrunk by a quarter in the last 20 years.

A healthy ecosystem

Discovering and developing new treatments for rare disease is meaningful only if patients have access to them. At EFPIA, we are committed to both backing innovation and boosting access to rare disease medicines.

In a recent joint statement with EURORDIS, we proposed practical measures and taken concrete actions to bring medicines to more patients, faster. We see opportunities and have proposals to ensure this revision results in the first-class regulatory framework Europe needs to support a rapidly evolving life science ecosystem and turn science and research into solutions for patients.

Thousands of people with rare diseases have treatments that were unavailable 20 years ago. We won’t rest until this is true for every patient.

Read the most recent articles written by Nathalie Moll - Imagining a future where rare diseases patients have a better chance at a healthy life