ASA-001 in ADSS1 Deficient Myopathy

Phase 1, open-label, single-arm trial of adenylosuccinic acid in adenylosuccinate synthase 1-deficient myopathy (MPD5). Primary endpoints: Incidence and severity of all adverse events, treatment emergent adverse events and serious adverse events at 10 months, Observed and changes from baseline in vital signs at 10 months and 6 more. Started Mar 2026; status: enrolling by invitation.