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. 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, each data point, each new insight—into 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 the clinical understanding of rare diseases—the variability in how a rare disease presents and progresses, understanding changes in biomarkers, and insights into accelerating diagnosis—helping to 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 Unit. HPP is a rare, inherited and progressive metabolic disease characterised by defective mineralisation (the process that hardens and strengthens bones and teeth), impaired calcium and phosphate regulation, and non-skeletal manifestations, such as muscle weakness, generalised fatigue and pain.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 from across medical centres and countries is pooled into one accessible source, making it possible to study a more diverse and representative patient population.

Over the past 10 years, insights from the Global HPP Registry have helped advance research and lay the groundwork for better and more personalised care, which:

A Foundation for the Future

Today, the registry serves as a vital foundation for ongoing advancements in the field for HPP, continuing to inform scientific research and clinical development, and how patients are diagnosed, treated and supported. The collective real-world evidence generated from this registry not only enriches current clinical trial data but is helping to advance studies on the next generation of therapies.

As we mark the 10^th anniversary of the HPP Registry, we celebrate the impact it has generated and the community behind it, including patients, families, clinicians and researchers. Because when we can see the whole story—page by page, person by person—we can shape a better future for those living with this rare disease.