CENTRE NATIONAL DE LA RECHERCHE SCIENTIFIQUE (CNRS);UNIVERSITE PARIS DESCARTES;INSERM (INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE);ASSISTANCE PUBLIQUE-HOPITAUX DE PARIS (APHP)
发明人:
CANAUD, GUILLAUME
申请号：
CA3013845
公开号：
CA3013845A1
申请日:
2017.02.17
申请国别(地区):
CA
年份:
2017
代理人:
摘要：
- 20 - ABSTRACT OF THE INVENTION METHODS FOR THE TREATMENT OF PIK3CA-RELATED 5 OVERGROWTH SPECTRUM The present invention relates to a method of treating PIK3CA-Related Overgrowth Spectrum (PROS) more particularly, Congenital, Lipomatous, Overgrowth, Vascular Malformations, Epidermal Nevi and Spinal/Skeletal Anomalies and/or Scoliosis (CLOVES) 10 syndrome. To date, there are no specific treatments for patients and no animal models of PROS to better understand the physiopathology of the disorder. Inventors developed a genetic mouse model of PROS that recapitulates the human disease and demonstrated the efficacy of BYL719. Based on these results they treated two patients, one adult and one child, with severe CLOVES syndrome using BYL719. The drug had a robust efficiency on disease in the 15 two patients inducing quick recovery of all affected organs. Thus, the invention relates to a method of treating PROS in a subject in need thereof comprising the step of administrating the subject with a therapeutically effective amount of BYL719.
