Muscle biopsies were taken before and after gene therapy in 10 children with myotubular myopathy participating in the ASPIRO trial.
- At 24 weeks after treatment, organelle localization was greatly improved, with no increase in myofibril size in most cases.
- On biopsy at 48 weeks post-treatment, the increase in myofibril size became statistically significant. However, the degree of nuclear centralization, the number of triads, the distribution of fiber types and the number of satellite cells were not statistically modified.
