Pangaea Data and AstraZeneca's Alexion Unite to Accelerate Rare Disease Detection

Pangaea Data, a company specializing in hard-to-diagnose disease detection, has entered a multi-year collaboration with Alexion, AstraZeneca's rare disease subsidiary, to develop and validate an artificial intelligence tool that identifies hypophosphatasia in adults through electronic health record analysis.

The partnership, established in March, focuses on creating an Artificial Intelligence Clinical Data Support System (AI-CDSS) that seamlessly integrates into existing healthcare workflows to accelerate diagnosis of hypophosphatasia, a rare inherited disorder affecting bone development and mineralization. The condition, which can lead to tooth loss and skeletal complications, affects mild forms in one in 6,000 to 7,000 people, while severe forms impact one in 100,000 to 300,000 newborns annually, according to Cleveland Clinic data.

"Alexion entered into a multi-year collaboration agreement with Pangaea a few months ago, which has allowed Pangaea to configure its product platform to help close care gaps for a rare condition called hypophosphatasia," explained Vibhor Gupta, founder and CEO of Pangaea Data. The AI-CDSS will analyze crucial patient data including dental records, family history, and alkaline phosphatase levels—information that physicians often struggle to access comprehensively.

The challenge of diagnosing rare diseases stems from their complexity and physicians' limited exposure to such conditions. "As a clinician, you have 15,000 or 20,000 hard-to-diagnose conditions, and there's a very high chance you would think about the things that you heard about, talk about the things that you know that are not rare conditions," Gupta noted. This cognitive bias often leads to prolonged diagnostic journeys for patients with rare diseases.

The collaboration is currently in its first phase, engaging clinical experts across nine countries to define the AI-CDSS platform's configuration. "We are looking to engage with clinical peers who work on hypophosphatasia across a host of health systems in nine countries," Gupta said. "The idea is to work with them and align with their clinical and business priorities. You're closing care gaps to improve patient outcomes, but the business priority is also important."

Pangaea's existing AI platform already demonstrates significant capability, detecting 42 care gaps across 16 hard-to-diagnose conditions, including COPD and ovarian cancer. The company aims to maintain this efficiency with the hypophosphatasia tool, targeting diagnostic results within 8 to 10 minutes of analysis.

The system's design prioritizes minimal disruption to clinical workflows. "The idea would be that the technology is configured, validated and then deployed at the point of care, so clinicians can use it seamlessly in their daily work, rather than them having to go to another application or think about what's really going on. The idea is not to disrupt their existing workflows, and equally, not be a burden on their existing technology stack," Gupta emphasized.

Once deployed, the tool will operate nearly invisibly within health systems' EHRs. "As far as the physician is concerned, we are practically invisible. They don't even need to switch a tab or switch an application because 10 minutes is a very short amount of time," Gupta said. "It's something that will give them results pretty immediately."

This partnership represents a significant step toward addressing the diagnostic challenges faced by rare disease patients, combining Alexion's therapeutic expertise with Pangaea's AI technology to potentially transform how hypophosphatasia is identified and treated in clinical settings.

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