PIK3CA-Related Overgrowth Syndromes (PROS) is a genetic disorder due to somatic gain of function mutations of the PIK3CA gene. This rare condition has no specific treatment and a poor survival rate. We recently developed a genetic mouse model of PROS that recapitulates the human disease and identified a new drug able to prevent and improve organ dysfunction in the PROS mouse model. Based on these results, we treated patients with this drug. Previously intractable vascular tumors shrunk, congestive heart failure fully recovered, hemi-hypertrophy was reduced, and scoliosis was attenuated. This treatment was not associated with any significant side effects.
If the drug has a major impact on the outcome of the disease, the exact physiopathology of PROS remains elusive. In the current proposal, using a very ambitious project, we would like to decipher the mechanisms that leads to overgrowth in PROS patients.
Monsieur Guillaume CANAUD (Institut Necker Enfants Malades - Centre de médecine moléculaire)
The author of this summary is the project coordinator, who is responsible for the content of this summary. The ANR declines any responsibility as for its contents.
UPDESCARTES-INEM Institut Necker Enfants Malades - Centre de médecine moléculaire
INSERM UMRS 1151 INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE
Help of the ANR 484,100 euros
Beginning and duration of the scientific project: November 2019 - 36 Months