Tag: Rare Disease

  • Pangaea Data and Sanofi Use AI to Detect Rare Disease Alpha-1 Antitrypsin Deficiency

    Pangaea Data and Sanofi Use AI to Detect Rare Disease Alpha-1 Antitrypsin Deficiency

    Pangaea Data, a provider of guideline-configured AI solutions, has partnered with Sanofi to deploy machine learning algorithms that analyze electronic health record (EHR) data. The collaboration aims to identify patients with Alpha-1 Antitrypsin Deficiency (AATD) earlier, addressing the chronic underdiagnosis of this rare genetic disorder across the United States.

    Research indicates that up to 90% of individuals with AATD remain undiagnosed, often waiting five to eight years for confirmation after symptoms appear. The AI platform processes real-time clinical data, including structured fields and unstructured physician notes, to flag patients who may need further evaluation without adding administrative burden.

    “We are pleased to support the deployment of innovative solutions like Pangaea’s platform that can help not only identify patients in need of evaluation earlier using real-time, real world data that remains securely within the health system, but also address workflow challenges,” said Lisa Sniderman King, Senior Director, Scientific Affairs and Diagnostics, US Medical at Sanofi.

    The technology integrates with existing EHR systems, scheduling tools, and communication platforms, delivering insights directly into clinical workflows. Population health dashboards further enable health system leaders to spot care gaps and ensure guideline adherence.

    While the initial focus is on AATD, both companies envision broader applications for respiratory and rare diseases such as severe asthma and COPD. Dr. Vibhor Gupta, CEO and Founder of Pangaea Data, commented, “We are excited to work with Sanofi beginning with AATD while advancing a broader vision for scalable, guideline-configured AI that can help scale earlier detection, screening and management across chronic and rare hard-to-diagnose conditions.”