Sanofi and Pangaea Deploy AI Platform to Improve Detection of Rare Genetic Disorder

Sanofi and Pangaea Data have launched a collaboration to improve the detection of Alpha-1 Antitrypsin Deficiency (AATD), a rare inherited genetic disorder that often goes undiagnosed for years. The initiative will deploy Pangaea's artificial intelligence platform across U.S. healthcare settings to identify patients who may require further evaluation using information already contained in electronic health records (EHRs).

The companies announced the collaboration on June 23, saying the technology will be used in both large health systems and lower-resource community care settings. The platform analyzes structured and unstructured clinical data, including physician notes, to identify patients who may meet criteria for AATD testing.

AATD occurs when the body does not produce enough alpha-1 antitrypsin, a protein that helps protect the lungs from inflammation-related damage. The condition is associated with emphysema, chronic obstructive pulmonary disease (COPD), and liver disease. According to the Alpha-1 Foundation, as many as 90% of people living with AATD in the United States remain undiagnosed.

AI Targets Persistent Diagnostic Delays

Healthcare providers have long faced challenges identifying AATD patients because symptoms often overlap with more common respiratory conditions. Research cited by Sanofi indicates that patients frequently wait between five and eight years after symptoms appear before receiving a diagnosis.

“AATD remains significantly underdiagnosed, leaving many individuals unaware of the underlying cause of their lung disease,” said Lisa Sniderman King, Senior Director, Scientific Affairs and Diagnostics, US Medical at Sanofi.

King said the platform could help identify patients earlier using real-world clinical data while reducing workflow challenges associated with rare disease testing.

The deployment reflects a broader movement toward using AI inside healthcare workflows to surface information that may already exist in patient records. Similar efforts have focused on extracting clinically relevant insights from physician notes and other forms of unstructured data. 

Unlike generative AI systems designed for content creation, Pangaea's technology functions as clinical decision support software. It analyzes existing medical records against clinical guidelines and presents potential findings directly within provider workflows.

Expanding AI Use in Rare Disease Detection

Sanofi and Pangaea said the initial focus is AATD, but the approach could eventually be applied to other respiratory and rare diseases that experience lengthy diagnostic journeys.

“AI has the potential to transform the patient journey by turning existing medical data into actionable insights that reduce diagnostic delays,” said Ghassane Baaziz, Head of Global Rare Patient Activation and Growth Strategy at Sanofi.

The platform integrates with electronic health record systems and other healthcare tools, allowing clinicians to receive recommendations within their existing processes. Healthcare organizations have increasingly prioritized this type of workflow integration as AI adoption moves beyond pilot projects and into routine clinical operations. 

“This collaboration represents an important step toward a future where health systems can proactively identify patients earlier and more consistently using the data already available within routine care,” said Dr. Vibhor Gupta, CEO and Founder of Pangaea Data.

The initiative also aligns with Sanofi's broader investment in artificial intelligence across healthcare and drug development. Earlier efforts have included AI-driven partnerships focused on accelerating research and improving patient outcomes. 

By focusing on information already stored in medical records, the collaboration aims to help healthcare providers identify at-risk patients sooner and reduce delays that can contribute to disease progression.