Scientific Research in 3 points


Currently, there is no permanent cure for this condition. However, there are supportive therapies that can considerably improve patients’ lives. Commonly, CMD sufferers receive treatment from physiotherapists, practising regular stretching or through the application of splints. In the first or second decade of life, the use of a BIPAP (Intermittent Positive Pressure Ventilation) machine may be necessary to aid nocturnal oxygenation during sleep. Surgery may be necessary to correct scoliosis or to loosen excessively strong contractures.

A few studies have been carried out that suggest a possible cure for the future

1. Two interdependent pathogenic mechanisms have been identified in the mouse model and in humans

mitochondrial dysfunction: mitochondria are the cell’s energy generators, their dysfunction causes muscle cell death;
autophagy deficiency: this is the mechanism by which the cell ‘autodigests’ what is damaged within it; autophagy deficiency amplifies mitochondrial damage.

2. A number of effective treatments have been identified in mice lacking COL6

– cyclosporine A corrects mitochondrial dysfunction: an immunosuppressant, generally used to prevent rejection after transplantation (cyclosporine A), has shown promising results by acting as an inhibitor of the mitochondrial permeability transition pore. However, this substance, due to its immunosuppressive effect, was not considered as a possible therapy for mitochondrial dysfunction. Subsequently, another drug was devised, an analogue of cyclosporine, but without immunosuppressive power (Debio-025 alias Alisporivir);
stimulation of autophagy is activated by fasting or with a low protein diet.

3. Clinical trials in patients with COL6 myopathy

cyclosporine A corrected mitochondrial dysfunction by increasing muscle regeneration and strength;
a hypoprotein normocaloric diet activated autophagy in the muscle and leucocytes, with improvements in some functional tests, muscle strength and respiratory function.