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.