AI by Pangaea Data and Sanofi Tackles Disease Underdiagnosis

The deployment of guideline-configured AI solutions is demonstrating how advanced technologies can tackle complex diagnostic challenges, with a new collaboration targeting one of health care’s most persistent problems: rare disease underdiagnosis.

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

The initiative leverages machine learning algorithms to analyse electronic health record (EHR) data within large health systems and low-resource community care settings, identifying patients who may require further evaluation.

By processing existing clinical data in real time, the AI platform aims to reduce diagnostic delays and improve access to timely care for individuals who have this rare genetic condition.

AI-powered solutions for diagnostic gaps

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. It remains significantly underdiagnosed, leaving many individuals unaware of the underlying cause of their lung disease. 

“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 health care providers often face when ordering rare disease diagnostic testing,” says Lisa Sniderman King, Senior Director, Scientific Affairs and Diagnostics, US Medical at Sanofi. 

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

The technology addresses this challenge by enabling earlier identification, which could help reduce disease progression and improve long-term outcomes for affected patients.

Real-time data analysis capabilities

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

The platform’s algorithms analyse 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.

“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,” says Ghassane Baaziz, Head of Global Rare Patient Activation and Growth Strategy at Sanofi. 

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

The technology delivers insights directly within existing workflows, allowing clinicians to receive actionable information at the point of care without adding administrative burden. 

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

Population health dashboards also provide health care 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.

Scalable technology for disease detection

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.

Dr Vibhor Gupta, CEO and Founder of Pangaea Data, says: “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 processing existing health care data more effectively, AI technology 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 AI, 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 health care organisations continue to adopt advanced technologies, collaborations such as this could help reshape the future of rare disease detection and management.