AstraZeneca’s rare disease division, Alexion, has joined forces with UK health tech company Pangaea Data to support the development of an AI tool aimed at identifying hypophosphatasia (HPP).
Under this partnership, Alexion and Pangaea will work to validate and secure regulatory approval for an AI-driven clinical decision support system (AI-CDSS) tailored to HPP. The tool will be built by adapting Pangaea’s existing AI platform to detect HPP using patients’ electronic health records (EHRs).
HPP is a rare metabolic disorder that disrupts bone mineralisation, leading to ‘soft bones’ and increasing the likelihood of fractures. It is estimated to affect roughly one in 100,000 people, but diagnosing HPP remains difficult due to its highly variable clinical presentation. As a result, many patients go undiagnosed or are misdiagnosed with other skeletal conditions that present similarly.
Pangaea’s platform addresses this challenge by analysing diverse datasets to differentiate between conditions with overlapping characteristics, enabling earlier identification of patients who might otherwise be overlooked or misdiagnosed.
Since its launch in 2018, Pangaea’s AI platform has been adapted to speed up the detection of 42 other difficult-to-diagnose conditions using patient EHRs. This includes diseases like chronic obstructive pulmonary disease (COPD) and cachexia, supported by a 2023 collaboration with Microsoft Azure.
Pangaea founder and CEO Dr. Vibhor Gupta highlighted that applying Pangaea’s AI platform at scale to detect hard-to-diagnose conditions like adult HPP could greatly benefit patients and clinicians by enabling accurate, timely diagnoses and advancing the promise of precision medicine.
Seng H Cheng, senior vice president and head of research and product development at Alexion, pointed out that due to HPP’s complexity, patients often endure years before receiving a correct diagnosis—an experience he described as “inherently inequitable.”
Cheng added, “We are dedicated to supporting potential solutions that facilitate accurate and timely diagnoses, which can be critical for patient treatment, and we look forward to progressing this collaboration with Pangaea Data.”
Boston-based Alexion Pharmaceuticals became part of AstraZeneca through a 2020 acquisition.
