Pompe disease: a country-wide molecular screening in a cohort of 15,068 study participants

Key Points

• The study provides a comprehensive genetic overview of Pompe disease in the Russian population, focusing on GAA activity levels.
• In this large-scale screening involving 15,068 participants, significant genetic variations associated with Pompe disease were identified.
• Assessment utilized molecular sequencing techniques and measured GAA activity to explore Pompe disease's genetic landscape.
• These findings may enable earlier diagnosis and better management strategies for Pompe disease in affected individuals.