Over 36 million people in Europe live with one of more than 6,000 rare diseases—yet fewer than 5% of these conditions have an available treatment. Tackling this pressing public health issue requires more than scientific innovation, it demands a fundamental shift in how health data is generated, accessed, and used across the EU.
Currently, rare disease data in Europe is fragmented, inconsistent, and often unstructured, limiting its value for patients, researchers, healthcare professionals, and regulators. Health data, when paired with patient engagement and research networks, holds the key to accelerating diagnosis, personalising care, and supporting evidence-based policy and drug development. Advances in digital health, AI, and data science now offer the tools to transform isolated information into powerful insights.
However, without harmonised standards, secure infrastructure, and interoperable systems across Member States, these tools cannot reach their full potential. Inconsistent governance, siloed data, and redundant registries create inefficiencies and inequities, placing an unsustainable burden on healthcare providers and developers. For people living with a rare disease, the result is often delayed diagnosis and limited access to treatment and care.
EU policymakers need to support the alignment of data collection frameworks and evidence standards, both through legislation and by investing in technical capacity across Member States
As a research-oriented, international biopharmaceutical group firmly rooted in Europe, Chiesi supports a pan-European approach to rare disease data—rooted in common governance frameworks, aligned standards, and secure cross-border infrastructure.
From Fragmentation to Action
The EU Health Technology Assessment (HTA) Regulation presents an opportunity to streamline therapeutic uptake. However, current national level evidence requirements continue to hinder progress in rare and ultra-rare diseases. International and national registries often run in parallel to meet fragmented criteria from payers and HTAs, ultimately duplicating work for healthcare professionals and developers alike.
A harmonised approach to evidence generation would reduce regulatory costs, speed up access to innovative treatments, and allow health systems to use resources more effectively.
EU policymakers need to support the alignment of data collection frameworks and evidence standards, both through legislation and by investing in technical capacity across Member States.
Building the European Health Data Space
The European Health Data Space (EHDS) is a pivotal opportunity to overcome existing fragmentation. By enabling secure, interoperable data sharing across borders, EHDS can improve care delivery, support research, and inform policy decisions.
Without action, people living with a rare disease in smaller or less-resourced Member States risk falling further behind.
A shared structured health data space will also enable the more efficient application of AI and machine learning to identify at-risk populations, improve treatment targeting, and enhance health system planning. For this to succeed, Member States need adequate resources to implement EU standards in national electronic health records and patient registries.
EU institutions must prioritise greater support for EHDS implementation, particularly in under-resourced health systems. This will ensure that all people living with a rare disease can benefit from faster diagnoses, better treatments, and participation in research.
From Burden to Breakthrough
Without action, people living with a rare disease in smaller or less-resourced Member States risk falling further behind. With it, Europe can pool data, build richer registries, generate real-world evidence, and support joint decision-making between clinicians, researchers, regulators, and patients.
A year after the Draghi Report’s call to expand EU capacity in R&D, the way forward is clear: a harmonised European approach to health data is essential to turn today's burden into tomorrow’s breakthrough. It’s no simple feat, but we have the know-how and vision to bring it forward. Let us act now to build a future where every person living with a rare condition counts, while also contributing to a stronger, more equitable European health system.
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