CA3013845C — Methods for the treatment of pik3ca-related overgrowth spectrum

USPTO Abstract

- 20 - SUMMARY OF METHODS OF THE INVENTION FOR THE TREATMENT OF DISEASES IN THE PIK3CA-RELATED HYPERTROPHY FAMILY The present invention relates to a method for treating diseases in the PIK3CA-related hypertrophy (PROS) family, more particularly congenital lipomatous growth-vascular malformation-epidermal nevus-spinal anomaly (CLOVES) syndrome. To date, there is no specific treatment for patients nor animal models of PROS that would allow for a better understanding of the pathophysiology of this condition. The inventors developed, using genetic engineering, a mouse model of PROS that reproduces the human disease and demonstrated the efficacy of BYL719. Based on these results, they treated two patients, an adult and a child, with severe CLOVES syndrome, using BYL719. The drug demonstrated robust efficacy against the disease in both patients, inducing rapid recovery of all affected organs. Thus, the invention relates to a method for treating PROS in patients requiring it, comprising the step of administering a therapeutically effective amount of BYL719 to the patient.