A study conducted by Prof. Guillaume Canaud, physician at the Necker Enfants Malades Hospital and Laboratory Director at the Necker Enfants Malades Institute has just been published in the journal Science Translational Medicine
This team created a mouse model that develops lymphatic anomalies linked to the PIK3CA gene mutation similar to those of patients. The team then demonstrated the efficacy of treatment with alpelisib (a molecule approved for use in breast cancer) in this animal model and then in 6 patients.
This is the culmination of 3 years' work which opens up important therapeutic prospects for patients. The result is a better quality of life and a significant aesthetic improvement.Link to the article: Alpelisib administration reduced lymphatic malformations in a mouse model and in patients (science.org)