Raphael Schiffmann, MD, of 4D Molecular Therapeutics. Schiffmann, discusses the mechanism of action of 4D-310, a gene therapy in development that targets the heart in Fabry disease.

Fabry disease is a rare genetic disorder that results in the buildup of globotriaosylceramide. Characteristic symptoms of Fabry disease include acroparesthesias, angiokeratomas, hypohidrosis, corneal opacity, gastrointestinal problems, tinnitus, and hearing loss. Fabry disease also involves potentially life-threatening complications involving the heart and kidneys. 

4D-310 uses a targeted and evolved AAV vector C102 to deliver a codon-optimized human GLA transgene directly to cardiomyocytes and kidney glomeruli cell-autonomous AGA production following IV administration.

Dr. Schiffman notes that the gene therapy is designed to generate high sustained blood levels of AGA, as well as high local production of AGA directly within critically affected organs, including the heart. 

For more information about Fabry disease and other diseases impacted the heart, visit checkrare.com/diseases/heart-diseases/