Alexion, AstraZeneca's rare disease business, has announced a collaboration with British health technology company Pangaea Data to develop an artificial intelligence clinical decision support system (AI-CDSS) designed to improve detection of hypophosphatasia in adults. The partnership will see Alexion provide funding for the development, clinical validation, and regulatory approval of the AI-powered diagnostic tool.
Addressing Diagnostic Challenges in Rare Disease
Hypophosphatasia (HPP) is an inherited disorder resulting from alkaline phosphatase (ALP) deficiency, which leads to reduced bone mineralization, impaired energy metabolism, and compromised neurotransmitter function. The condition affects approximately one in 100,000 people in the general population, but diagnosis remains challenging due to HPP's highly variable clinical presentation.
"Adults living with a rare disease such as HPP often wait years to receive an accurate diagnosis because of the complex nature, varied symptoms, and limited awareness of the condition, a journey that is inherently inequitable," said Seng Cheng, senior vice president and head of research and product development for Alexion.
The manifestations of HPP can be wide-ranging, and the disease often remains undiagnosed or misdiagnosed due to its diverse and non-specific symptoms. Patients frequently receive incorrect diagnoses for overlapping skeletal pathologies, delaying appropriate treatment and clinical intervention.
AI Platform Technology
Pangaea Data's AI platform will be reconfigured specifically for HPP detection by analyzing electronic health records (EHRs) and leveraging clinical guidelines. The system is designed to distinguish between conditions with overlapping features, potentially identifying patients who might otherwise go undiagnosed or be misdiagnosed.
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. The company established a partnership with Microsoft's Azure in 2023 to further enhance its diagnostic capabilities.
"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," said Dr. Vibhor Gupta, founder and CEO of Pangaea Data.
Clinical Impact and Future Outlook
The collaboration aims to improve diagnostic accuracy and reduce the time to diagnosis for adults with HPP. With improved detection capabilities, patients could receive more timely clinical intervention, potentially leading to better health outcomes.
Cheng emphasized Alexion's commitment to supporting diagnostic solutions: "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."
The partnership represents a strategic approach to addressing the diagnostic challenges inherent in rare diseases, where traditional diagnostic pathways often fail to identify patients efficiently. Boston-based Alexion Pharmaceuticals became part of AstraZeneca following an acquisition in 2020, positioning the collaboration within a broader rare disease portfolio.
