Explore the Top Reasons that Impact Hypophosphatasia Patient Care in 2025

When we talk about rare diseases, one thing becomes clear very quickly: the patient journey is rarely straightforward. Hypophosphatasia (HPP), a rare genetic disorder that affects bone and mineral Hypophosphatasia metabolism, is no exception. For both physicians and patients, managing HPP feels like navigating a maze of delayed diagnoses, limited therapies, and fragmented care. 

Recently, at GRG Health, we set out to better understand what managing HPP looks like on the ground. By speaking directly with specialists across Canada, rheumatologists, endocrinologists, nephrologists, and geneticists we wanted to capture not just the clinical realities, but the human side of treatment decision-making. What we uncovered was both challenging and hopeful. 

Why Hypophosphatasia (HPP) is so often missed?

One of the strongest themes that came up in our conversations was the challenge of diagnosis. Because HPP mimics other skeletal or metabolic conditions, many patients are misdiagnosed or diagnosed late. Experts repeatedly highlighted the importance of genetic testing and better physician awareness. Early and accurate identification, they argued, could make all the difference in patient outcomes. 

Treatment: Progress, But Still Limited 

Most clinicians we spoke to rely on a combination of supportive therapies and enzyme replacement therapy (ERT) for severe cases. While ERT has been a game-changer for many, physicians agreed that more therapeutic options are needed especially for adult patients where data on long-term outcomes is still limited. 

In other words, progress is happening, but the toolbox remains small. 

Interestingly, prescribing behavior wasn’t consistent across the board. Specialists who see more HPP cases felt confident about treatment pathways, while others admitted they leaned on referral networks due to limited familiarity. This points to a bigger issue: awareness and exposure directly shape patient access to therapies. 

The Way Forward: Education, Collaboration, and Speed 

What struck us most was the strong call for more education and cross-specialty collaboration. Physicians want better resources, not only for themselves, but also for their patients. They believe that rare diseases like HPP need more consistent attention, training, and communication across the healthcare ecosystem. 

The good news? Insights like these can be captured quickly. Through GRG Health’s Growth+ Connect platform, we were able to recruit and conduct all 17 in-depth interviews in just 2.5 weeks. For pharma leaders and decision-makers, that speed is critical: it means insights can inform strategies while they’re still relevant. 

Final Thoughts 

HPP remains a tough disorder to manage, but it’s also an area full of opportunities, both for physicians seeking better pathways and for life sciences leaders working on the next wave of therapies. What became clear from our work is that rare disease care doesn’t just need new treatments; it needs better education, awareness, and collaboration to truly improve patient lives. 

About GRG Health 

At GRG Health, we connect life sciences organizations with the real-world voices that matter, healthcare professionals, patients, and stakeholders across the ecosystem. Through Growth+ Connect, our unique engagement platform, we deliver fast, actionable, and future-ready insights to support smarter decisions in complex therapeutic areas. 

If you’re looking to understand your market better, or explore opportunities in rare diseases like HPP, Contact us today.