A recent study highlights the significant cardiovascular morbidity and mortality associated with Fabry disease. This research underscores the need for increased awareness and targeted interventions for patients suffering from this rare condition.

A study from Ninghai County, Zhejiang Province, highlights successful high-risk and family screening for Fabry disease, focusing on the GLA IVS4+919G>A variant. The genotype-phenotype analysis provides valuable insights into the disease's manifestation in affected families.

Sanofi plans to submit venglustat for regulatory approval in Gaucher disease following positive Phase III trial results, while the future for Fabry disease remains uncertain after a trial failure. This dual outcome highlights the complexities of rare disease drug development.