Hepatobiliary involvement, such as gallstones or peliosis hepatis, has been reported in several cases of myotubular myopathy since the 1990s. It was found in 7% of participants in the Recensus study or the natural history study NatHis-MTM.
With the death from severe hepatic insufficiency of three participants in the ASPIRO trial receiving the highest dose of AT-132, a gene therapy product providing the MTM1 gene, and then of a fourth receiving half the dose, the question crucially arises from the hepato-biliary involvement in this disease and its mechanisms.
An Italian team collected clinical data from 12 children and adolescents with myotubular myopathy, aged 7 months to 19 years. All of them had a semi-annual clinical and laboratory assessment and a liver ultrasound each year.
- Eight patients presented with an intermediate form and four with a severe form of myotubular myopathy.
- Abnormal liver structure on ultrasound was found in 7 patients, with evidence of peliosis hepatic in two of them.
- Transaminases were elevated in five cases.
- Five children presented with gallstones, four of whom were asymptomatic.
- Four participants (three less than 2 years old and one 19 years old) had no signs of hepato-biliary, ultrasound, or laboratory damage.
