MyoAAV-4A-ADSS1

MyoAAV-4A-ADSS1 is an investigational gene replacement therapy designed for the treatment of adenylosuccinate synthetase 1 (ADSS1) myopathy, an ultra-rare, autosomal recessive metabolic neuromuscular disease. The therapy utilizes a next-generation, muscle-directed adeno-associated virus capsid (MyoAAV-4A) to deliver a full-length human ADSS1 transgene. ADSS1 encodes a striated muscle-specific isoform of adenylosuccinate synthetase (AdSS1), which is critical for the adenine nucleotide cycle and energy metabolism in muscle cells. By delivering a functional copy of the ADSS1 gene, the therapy aims to restore AdSS1 protein expression and enzymatic activity in skeletal and cardiac muscles, correcting metabolic dysfunction and improving muscle strength and endurance. It is currently in preclinical development.