(EN) 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 methodof treating PROS in a subject in need thereof comprising the step of administrating the subject with a therapeutically effective amount of BYL719.
(ZH) 本发明涉及一种治疗PIK3CA相关过度生长综合征群(PROS)，更具体的，先天性脂质性过度生长、血管畸形、表皮痣和脊柱/骨骼异常和/或脊柱侧凸(CLOVES)综合征的方法。目前，对于患者没有特异性的治疗，且没有PROS的动物模型以更好地了解该疾病的病理生理学。本发明人开发了PROS的遗传小鼠模型，其再现了人疾病并证明了BYL719的功效。基于这些结果，他们用BYL719治疗了患有严重CLOVES综合征的两名患者，一名成人和一名儿童。该药物在两名患者中对疾病具有强大的功效，诱导所有受影响器官的快速恢复。因此，本发明涉及一种治疗有需要的受试者的PROS的方法，包括向所述受试者施用治疗有效量的BYL719。