Preliminary success of gene therapy in muscles of infants and children suffering from X-linked Myotubular Myopathy

Clinical trial of AT132 therapy involving 8 patients with fatal X-linked myotubular myopathy shows improvements in all cases.

The disorder manifests itself by far-reaching muscle weakness, which usually impairs normal breathing movements. Infants suffering from are ventilated from birth. The severity of muscle underdevelopment leads to a short period of survival, with only rare cases living to adulthood.

Mutations in the MTM1 gene cause X-linked myotubular myopathy. An enzyme produced by the gene plays a vital role in muscle cells maintenance.

Therapy AT132 attempts to insert a new functional copy of MTM1 gene to muscle cells via safe viral particles.

Out of 8 patients, 3 children achieved ventilator independence. The rest showed a significant reduction in ventilation time. Additional measures of MTM1 gene insertion confirmed successful genetic modification.

The therapy probably will be extended in the next phases of clinical trials.

More: “Audentes Therapeutics Presents New Positive Interim Data from ASPIRO, the Phase 1/2 Clinical Trial of AT132 in Patients with X-linked Myotubular Myopathy, at 23rd International Annual Congress of the World Muscle Society”,