PIK3CA基因相关生长过度综合征

别名

PROS

近两年的全球研究 5L2

2024/08 起在 Europe PMC 检索所得，按发表时间倒序显示最近 5 篇。标题未译成中文——自动翻译需要接入 LLM 服务，尚未引入。

• 2026-07病例报告
  Pulmonary Embolism as the Initial Presentation of Klippel-Trénaunay Syndrome
  JACC. Case reports · DOI · Europe PMC
• 2026-04病例报告
  Unusual Vascular Anomalies in Plastic Surgery: A Case Series
  Annals of plastic surgery · DOI · Europe PMC
• 2026-01病例报告开放获取
  Somatic PIK3CA Activating Mutation in a Plexiform Lesion of a Patient With HHT and PAH
  JACC. Case reports
• 2025-03综述开放获取
  Targeted Therapies for Slow-Flow Vascular Malformations
  The Australasian journal of dermatology · DOI · Europe PMC
• 2025-01系统综述
  Tumour spectrum in <i>AKT1</i>-related Proteus syndrome: a systematic review of clinical reports and series
  Journal of medical genetics · 被引 2 · DOI · Europe PMC

中国境外的在招试验 5L2

共 5 项。

• 尚未开始招募NCT07679269
  Roll-Over Study of Alpelisib (BYL719) for Continued Access and Long-Term Safety.
  II 期 · 干预性 · 2027/01/01Novartis Pharmaceuticals
• 招募中NCT06789913
  A Phase 2 Study of Mutant-selective PI3Kα Inhibitor, RLY-2608, in Adults and Children With PIK3CA Related Overgrowth Spectrum and Malformations Driven by PIK3CA Mutation (The ReInspire Study)
  II 期 · 干预性 · 2025/06/13Relay Therapeutics, Inc.
  澳大利亚、比利时、法国、德国、爱尔兰、意大利、西班牙、英国 等 9 国
• 招募中NCT05983159
  A Trial of Targeted Therapies for Patients With Slow-Flow or Fast-Flow Vascular Malformations
  II 期 · 干预性 · 2024/09/13Murdoch Childrens Research Institute
  澳大利亚
• 招募中NCT00001403
  Study of Proteus Syndrome and Related Congenital Disorders
  观察性 · 1994/04/27National Human Genome Research Institute (NHGRI)
  美国
• 可获取（拓展性用药）NCT04085653
  Managed Access Programs for BYL719, Alpelisib
  拓展性用药Novartis Pharmaceuticals

外部标识与链接