Gene Therapy for Comprehensive Treatment of Degenerative Muscle Diseases

Combines Two Transgenes in a Single AAV Vector to Target Multiple Tissues

This adeno-associated virus gene therapy is designed to address both cardiac and skeletal muscle dysfunction in degenerative muscle diseases by combining two transgenes in a single AAV vector, a significant improvement over conventional approaches that require separate viral deliveries. The therapeutics market was valued at $80.14 billion in 2024 and is expected to reach $155.20 billion by 2034. This technology addresses the critical cardiac complications in these conditions, specifically dilated cardiomyopathy, which involves enlargement and weakening of heart muscles, resulting in impaired calcium release and weakened contractions.

Researchers at the University of Florida have developed a dual-transgene AAV gene therapy that targets multiple affected tissues simultaneously, including the heart, skeletal muscles, and notably the diaphragm, to provide comprehensive treatment for degenerative muscle diseases, including Duchenne Muscular Dystrophy and related conditions with accompanying cardiomyopathy. Additionally, as with most AAV therapies, this treatment is administered only once and maintains lifelong activity.

Application

Comprehensive gene therapy for degenerative muscle diseases that targets multiple affected tissues simultaneously, including the heart, skeletal muscles, and the diaphragm

Advantages

• Combines two therapeutic genes in a single AAV vector, providing dual-transgene efficiency
• Simultaneously addresses cardiac dysfunction, skeletal muscle degeneration, and diaphragm function, targeting multiple tissues in one treatment
• Improves calcium release dynamics critical for proper muscle contraction, enhancing calcium handling
• Applicable across the spectrum of degenerative muscle diseases, providing broad application potential beyond classical muscular dystrophies

Technology

Unlike conventional single-target gene therapies, this approach, created by University of Florida researchers, uses a sophisticated promoter system that ensures proper tissue-specific expression, optimizing therapeutic effect while minimizing off-target consequences. The technology represents a substantial advancement in treating the multi-system manifestations of degenerative muscle diseases.