Sanofi & Pangaea's Clinical AI-Powered AATD Detections

AI continues to play an increasingly important role in transforming healthcare delivery, particularly in the identification of patients with underdiagnosed conditions. 

Pangaea Data, a provider of guideline-configured AI solutions, is collaborating with Sanofi to improve the detection of Alpha-1 Antitrypsin Deficiency (AATD) across the US. 

The initiative aims to deploy Pangaea's AI platform within large health systems and low-resource community care settings to help identify patients who may require further evaluation. 

By leveraging existing electronic health record (EHR) data, the collaboration aims to reduce diagnostic delays and improve access to timely care for individuals living with this rare genetic condition.

Addressing underdiagnosed AATD

AATD is a rare inherited disorder that remains significantly underdiagnosed despite established clinical guidelines recommending testing for at-risk patients. 

Research indicates that as many as 90% of individuals with AATD in the US have not been diagnosed, with many patients waiting between five and eight years from the onset of symptoms to receive confirmation of the condition. 

AATD occurs when the body produces insufficient levels of alpha-1 antitrypsin, a protein that helps protect the lungs from inflammation-related damage. 

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

“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 healthcare providers often face when ordering rare disease diagnostic testing.

Without adequate protection, lung tissue can progressively deteriorate, increasing the risk of emphysema and chronic obstructive pulmonary disease (COPD). 

The condition is associated with substantial health consequences, making earlier identification a critical priority for healthcare providers. Improving awareness and screening efforts may help reduce disease progression and improve long-term outcomes for affected patients.

Leveraging AI to identify at-risk patients

Under the collaboration, Pangaea aims to deploy its AI-powered platform, supported by Sanofi, to help healthcare organisations identify patients who may meet criteria for AATD evaluation based on information already contained within their medical records. 

The platform analyses both structured data and unstructured information, including physician notes, in real time to uncover clinical insights that may otherwise remain unnoticed. 

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

“For conditions like AATD, where patients often wait years for diagnosis despite relevant information already in their records, clinical decision support can identify at-risk patients in real-time. 

“This collaboration represents our commitment to leveraging innovative technology to ensure patients receive the right care at the right time."

These insights are delivered directly within existing workflows, allowing clinicians to receive actionable information at the point of care without adding administrative burden. 

The technology is designed to integrate with electronic health records, scheduling systems, communication platforms and other healthcare tools, helping organisations streamline patient identification efforts. 

Population health dashboards also provide healthcare leaders with a broader view of potential care gaps and opportunities for intervention. 

This approach supports more consistent adherence to clinical guidelines while enabling timely screening and evaluation decisions.

AI’s role in rare disease care

While the current focus of the collaboration is AATD, both organisations envision broader applications for AI-driven patient identification across respiratory and rare diseases. 

Conditions such as severe asthma, COPD and other uncommon disorders often experience prolonged diagnostic journeys, resulting in delayed treatment and avoidable disease progression. 

“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,” says Dr. Vibhor Gupta, CEO and Founder of Pangaea Data.

“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, with the ultimate goal of improving outcomes for patients globally.” 

By using existing healthcare data more effectively, AI can help health systems identify patients earlier and support more equitable access to testing, treatment options and clinical trial opportunities. 

The initiative also aligns with Sanofi's broader commitment to advancing innovation through immunoscience and artificial intelligence, which are increasingly being used to accelerate medical discovery and improve patient outcomes. 

Integrating AI into routine clinical practice offers the potential to standardise care pathways and reduce missed opportunities for diagnosis. 

As healthcare organisations continue to adopt advanced technologies, collaborations such as this may help reshape the future of rare disease detection and management.