Sanofi Korea and AI-based venture company DeepCardio have partnered to enhance the diagnostic environment for people with Fabry disease and increase awareness among medical professionals about high-risk groups for the disease.

Fabry disease is a rare genetic metabolic disorder caused by a deficiency of the enzyme alpha-galactosidase A (α-galactosidase A), resulting in the accumulation of glycosphingolipids in cells and damage to various organs, including the kidneys, heart, and nervous system.

Due to low disease awareness, nonspecific symptoms, and a progressive onset, diagnosis is often challenging. By the time symptoms appear, irreversible organ damage may already be present, making early diagnosis and intervention critical. Enzyme replacement therapy (ERT), which supplements the deficient enzyme, can help prevent disease progression, and early treatment may enable patients to maintain their daily activities.

On Wednesday, Sanofi and DeepCardio signed a memorandum of understanding to enhance the diagnostic environment for Fabry disease, agreeing to launch various initiatives starting in mid-July aimed at increasing healthcare professionals' awareness of high-risk groups and improving diagnostic conditions.

First, Sanofi will provide medical professionals with information on the characteristics of Fabry disease to help raise awareness of high-risk groups and continue its public support activities aimed at early detection of undiagnosed patients.

DeepCardio develops an AI program that can detect subtle patterns in electrocardiogram (ECG) data, enabling medical professionals to identify them visually, and commercializes the program.

"At a critical time when early detection and treatment of undiagnosed Fabry disease patients are of utmost importance, we are honored to collaborate with DeepCardio to improve medical professionals' awareness and diagnostic support, Sanofi Korea CEO Bae Gyeong-eun said. “We anticipate that this agreement will enable medical professionals to identify high-risk groups for Fabry disease more swiftly, creating an environment where patients can receive appropriate testing, thereby providing substantial assistance in the early diagnosis of undiagnosed patients. Sanofi Korea will continue to lead the way in the field of rare diseases by maintaining its ongoing interest and support for Fabry disease.”

DeepCardio’s co-CEOs, Kim Dae-hyuk and Choi Won-ik, said, “We feel it is very significant to be able to present new possibilities for the diagnosis of rare diseases through our collaboration with Sanofi. In particular, we expect that analyzing the unique patterns observed in Fabry disease patients using AI based on ECG test data and providing this information to medical professionals will contribute to improving the accuracy and efficiency of rare disease diagnosis.”