Myotubular myopathy is a genetic disease that causes complete paralysis. It leads to death within two years of age and at the moment there is no treatment or cure. However, researchers at the University of Geneva and the University of Strasbourg have found a possible path.
Researchers have identified a molecule that reduces disease progression and increases life expectancy, at least in animal models. It is called tamoxifen and is already used in the treatment of breast cancer. The next step will be to start clinical trials, so as to verify their effects on children suffering from myotubular myopathy.
A gene therapy study is currently underway. But before human experimentation can take place, it will still take years. This is why scientists have looked for a possible alternative among the molecules already used in other treatments on humans. In this way, the possible transition to a treatment available to all will be shorter.
Tamoxifen has been used in the treatment of breast cancer for years. The molecule has several interesting properties, among which a protective action towards the muscle fibers. Furthermore, it is antioxidant, anti-fibrotic and protects mitochondria. For this reason, a study still underway is being used in the treatment against Duchenne dystrophy with excellent results.
Scientists administered oral tamoxifen daily to a group of guinea pigs. During the study they tested different dosages, including the one used in breast cancer. The untreated mice lived an average of 45 days. With the lowest dose the average life was 80 days, 120 days with the intermediate dose and 290 with the highest dose. Some subjects of the last group have even reached 400 days.