AAV9-ADSS1

AAV9-ADSS1 is an investigational adeno-associated virus serotype 9 (AAV9)-based gene replacement therapy designed for the treatment of ADSS1 myopathy (also known as ADSSL1 myopathy). ADSS1 myopathy is an ultra-rare, autosomal recessive metabolic myopathy caused by loss-of-function mutations in the ADSS1 gene, which encodes the muscle-specific isoform of adenylosuccinate synthetase (AdSS1). This enzyme plays a critical role in the purine nucleotide cycle, which is essential for maintaining energy homeostasis in skeletal and cardiac muscle cells. AAV9-ADSS1 delivers a full-length human ADSS1 gene under the control of a muscle-specific promoter (such as MHCK7) to restore functional AdSS1 expression, normalize muscle nucleotide pools, and improve muscle contractility and motor function.

Other names

AAV-ADSS1AAV-ADSS-1AAV-ADSS 1