A Phase 1/2, Multicenter, Open-label, Dose Escalation and Expansion Clinical Study to Evaluate the Safety, Tolerability and Preliminary Efficacy of ASP2957 in Male Participants with Invasive Ventilator-dependent X-linked Myotubular Myopathy

Condition studied

X-linked myotubular myopathy

Investigational medicinal product(s)

Eligibility

Primary endpoint

Incidence and severity of TEAEs and AESIs, Change from baseline in the following safety assessments through week 52: o clinical laboratory tests o cardiac findings from ECG and ECHO o muscle findings from muscle MRI and histopathology o physical examinations

Endpoint detail

Change from baseline in hours per day of ventilation support at week 52, ASP2957 vector DNA in serum through week 52, ASP2957 vector DNA in muscle biopsy at week 52, ASP2957 vector DNA in saliva, urine and stool, Immunogenicity of ASP2957 through week 52 as assessed with the following tests: o Anti-MyoAAV3.8 TAb and NAb o Anti-myotubularin Tab