INSERM (INSTITUT NATIONAL DE LA SANTÉ ET DE LA RECHERCHE MÉDICALE);UNIVERSITÉ PARIS DESCARTES;CENTRE NATIONAL DE LA RECHERCHE SCIENTIFIQUE (CNRS);ASSISTANCE PUBLIQUE-HÔPITAUX DE PARIS (APHP)
发明人:
Guillaume CANAUD
申请号：
US15998950
公开号：
US20200215044A1
申请日:
2017.02.17
申请国别(地区):
US
年份:
2020
代理人:
摘要：
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.
