Researchers at Children's Hospital of Philadelphia (CHOP) announced encouraging results from the first ever gene therapy trial for Danon disease (DD), a rare, X-linked heart condition caused by a single gene mutation. The phase 1 trial was a collaboration between CHOP and the University of California, San Diego Medical Center, the University of Colorado, Anschutz Medical Center, Boston Children's Hospital and Rocket Pharmaceuticals. The data on the results of the RP-A501 Phase 1 trial, presented at a late breaking session Nov.
18 at the American Heart Association Scientific Sessions 2024 in Chicago, were concurrently published in the New England Journal of Medicine . Danon disease (DD) is a rare genetic disorder that affects several tissues and organ systems in the body. It is a type of lysosomal storage disease (LSD), which occurs when the body does not have the necessary protein cells to properly metabolize and recycle waste.
When this type of protein is missing, there is an unhealthy buildup of material in cells that leads to DD. Common symptoms include thickening or weakening of the heart muscle (also known as severe hypertrophic cardiomyopathy), weakening of arm and leg muscles, poor muscle tone (also known as skeletal muscular myopathy), cognitive delays and vision impairment. "There's an urgent need for new therapies for young patients with Danon disease," said Joseph Rossano, MD, MS, FAAP, FACC, Chief of the Division of Cardiology at CHOP and one of the principal inve.