Raphael Schiffmann, MD, of 4D Molecular Therapeutics, discusses the cardiac effects of 4D-310 in adults with Fabry disease.

Fabry disease is a rare lysosomal disorder that results in the buildup of globotriaosylceramide. Characteristic features 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 presented interim data from three adults with Fabry disease given 4D-310 at WORLDSymposium 2023, in Orlando, FL.

As noted by Dr. Schiffman, 12 month follow-up data following gene therapy showed Kansas City Cardiomyopathy Questionnaire (KCCQ) scores increased in the 2 patients with abnormally low KCCQ scores at baseline. Scores for the third patient remained normal. Other cardiac measures, as well as exercise capacity improved. 

This study is currently on hold due to reports of of treatment-related serious adverse events of atypical hemolytic uremic syndrome (aHUS).

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