CVI News: CHOP CVI Researcher Presents First-ever Gene Therapy Trial for Danon Disease

Joseph Rossano, MD, MS, Chief of the Division of Cardiology and Co-Executive Director of the Cardiac Center at CHOP shared promising outcomes from the first-ever gene therapy trial for Danon disease, a rare and life-threatening X-linked genetic disorder.

The Phase 1 trial, conducted in collaboration with the University of California, San Diego Medical Center, the University of Colorado Anschutz Medical Center, Boston Children’s Hospital, and Rocket Pharmaceuticals, was presented at a late breaking abstract session at the American Heart Association Scientific Sessions 2024 in Chicago and published simultaneously in the New England Journal of Medicine.

Danon disease is a severe lysosomal storage disorder caused by mutations in the LAMP-2 gene. This condition leads to a buildup of cellular waste, resulting in cardiac hypertrophy, skeletal muscle weakness, cognitive delays, and other systemic complications. The RP-A501 Phase 1 trial evaluated the safety and efficacy of a single infusion of an adeno-associated virus (AAV)-based gene therapy designed to replace the defective LAMP-2B gene.

“This trial represents a significant step forward in the treatment of Danon disease,” Dr. Rossano said. “Our findings suggest that gene therapy can address the underlying causes of this devastating disorder, offering new hope for patients and families.”

Encouraged by the Phase 1 results, a global Phase 2 study is underway to further evaluate the safety and efficacy of RP-A501 in male patients with Danon disease.

CHOP remains committed to groundbreaking research and innovation, bringing lifesaving therapies to patients with rare and complex conditions. 

Read more in this CHOP news release and on Cornerstone.