Gene therapy for adenylosuccinate synthase 1 deficiency

Gene therapy for adenylosuccinate synthase 1 (ADSS1) deficiency is an investigational therapeutic approach aimed at correcting the underlying genetic defect in patients with this ultra-rare neuromuscular disorder. ADSS1 myopathy results from mutations in the ADSSL1 (adenylosuccinate synthase-like 1) gene, leading to impaired purine metabolism and progressive muscle weakness[2][3][8]. The proposed mechanism of action involves delivering a functional copy of the ADSSL1 gene to patient cells—typically via viral vectors—to restore normal enzyme activity and purine nucleotide cycle function. This strategy is still in preclinical or early clinical development stages, with research focusing on animal models and cell-based systems demonstrating that introduction of normal human ADSS1 mRNA can rescue disease phenotypes[3]. No approved or marketed therapies currently exist; supportive care remains standard.

Other names

ADSS1 gene therapyADSS-1 gene therapyADSS 1 gene therapyADSSL1 gene therapyADSSL-1 gene therapyADSSL 1 gene therapyadenylosuccinate synthase 1 gene replacement therapy