The condition is often difficult to diagnose because its symptoms can resemble other skeletal pathologies.
AstraZeneca’s rare disease business, Alexion, has partnered with British health tech Pangaea Data to fund the startup’s development of an AI tool for detecting hypophosphatasia (HPP).
Through the partnership, Alexion and Pangaea plan to validate and gain regulatory approval on the resulting AI clinical decision support system (AI-CDSS) for HPP, which will be developed by reconfiguring Pangaea’s existing AI platform towards detecting HPP based on patients’ electronic health records (EHRs).
HPP is a rare metabolic disorder that impairs bone mineralisation, resulting in ‘soft bones’ and heightening the risk of bone fracture. The condition is estimated to affect one in 100,000 in the general population. However, diagnosis remains a challenge due to HPP’s highly variable clinical presentation, which often results in patients being undiagnosed or misdiagnosed with overlapping skeletal pathologies.
Pangaea’s platform analyses diverse datasets to distinguish between conditions with overlapping features, allowing it to identify more patients who might otherwise go undiagnosed or be misdiagnosed earlier.
Since its founding in 2018, Pangaea’s AI platform has been configured to accelerate the detection of 42 other hard-to-diagnose conditions through patient EHRs, including chronic obstructive pulmonary disease (COPD) and cachexia, through a 2023 partnership with Microsoft’s Azure.
Pangaea founder and CEO Dr Vibhor Gupta said: “The scalable application of Pangaea’s AI platform to detect hard-to-diagnose conditions, like HPP in adults, has the potential to benefit both patients and clinicians by enabling accurate and timely diagnosis thereby unlocking the full potential of precision medicine.”
Alexion senior vice-president and head of research and product development Seng H Cheng noted that HPP patients often wait years to receive an accurate diagnosis because of its complex nature on a journey that is “inherently inequitable”.
Cheng said: “We are committed to supporting potential solutions to help enable accurate and timely diagnoses, which can make a critical impact in the ability to treat patients, and we look forward to advancing this collaboration with Pangaea Data.”
Boston-based Alexion Pharmaceuticals became part of AstraZeneca following an acquisition in 2020.
Written by: Ross Law | June 9, 2025