Shaping the future of R&D with real world insights into rare disease

Written by: Christophe Hotermans, SVP, Head of Global Medical Affairs

Studying a rare disease often involves working with fragmented information, much like piecing together scattered pages of different books, each offering part of the story but rarely forming a complete picture. Rare disease researchers face this challenge due to small, often underdiagnosed, patient populations and limited understanding of how these diseases progress over time.

Now, imagine gathering those scattered pages into a shared book—that grows with each patient visit, data point and new insight—with a more complete story. That’s the power of a patient registry.

A patient registry is a voluntary, observational study that collects health information during routine care, and is often established as a post-marketing regulatory requirement for approved treatments to monitor long-term outcomes in real-world settings.¹ These registries can go beyond tracking treatment responses to help advance clinical understanding of rare diseases—including the variability in how a rare disease presents and progresses, understanding changes in biomarkers and insights into accelerating diagnosis—to help identify unmet therapeutic needs. What makes registries powerful is not just the individual entries, but how they come together over time to tell a collective patient story.

In rare disease research, where data is often scarce and dispersed, these registries become an essential tool. They help inform how diseases are defined and diagnosed and open new avenues for therapeutic innovation. People living with rare diseases have collectively contributed to a shared evidence base that is reshaping how we research, design and develop potential new treatments and support others with these conditions.

A Decade of Discovery in HPP

One such example is the Global HPP Registry (NCT02306720), sponsored by Alexion, AstraZeneca’s Rare Disease group. HPP is a rare, chronic, inherited metabolic disease characterised by defective mineralisation (the process that hardens and strengthens bones and teeth), impaired calcium and phosphate regulation, and functional impairments, such as muscle weakness, neurologic symptoms, generalised fatigue and pain that can be debilitating.²⁻⁴ Because the condition presents differently across individuals and age groups, gathering consistent data at a large scale is challenging.

Established over a decade ago, the HPP Registry was the first international effort of its kind dedicated to studying HPP, creating a foundational resource for understanding this rare disease across diverse populations. Through the registry, data collected from patient volunteers across medical centres and countries are pooled into one accessible source, making it possible to study a more diverse and representative patient population.

Insights from the Global HPP Registry have been instrumental in advancing research and laying the groundwork for better and more personalised care, which:

From Insights to Innovation

Patient registries have generated a valuable bank of real-world evidence that helps inform research and drug development at Alexion. For our scientists, the insights shared by patients, families and clinicians are the starting point for every question they ask and every molecule they pursue.

These real-world insights guide which questions to prioritise, which challenges to tackle and how to design therapies that address what matters most. In many diseases, where symptoms present differently across individuals and evolve over time, this connection between lived experience and scientific direction is essential.

This is what serial innovation means to us: each generation of science shaped by the evidence that came before it, each step forward grounded in the needs of the community. Because when science is guided by the people it's designed to serve, innovation becomes more purposeful—and more personal.