Efficacy of Rapamycin (Sirolimus) in the Treatment of BRBNS, Hereditary or Sporadic Venous Malformation

Venous Malformation Clinical Trial

Official title: Efficacy of Rapamycin (Sirolimus) in the Treatment of Blue Rubber Bleb Nevus Syndrome, Hereditary or Sporadic Venous Malformation

Status Recruiting

Clinical Trial Summary

A prospective, nonrandomized, open-label, single-arm clinical trial to study efficacy of rapamycin (sirolimus) in the treatment of Blue Rubber Bleb Nevus Syndrome, hereditary or sporadic venous malformation

Clinical Trial Description

Blue rubber bleb nevus syndrome (BRBNS) and venous malformation are mainly caused by somatic mutation of TEK and PIK3CA, which activates the PI3K/AKT signaling pathway. As an important protein kinase downstream of the PI3K/AKT pathway, mTOR can serve as a potential therapeutic target for BRBNS. Experiments of mice have shown that rapamycin inhibited the progression of venous malformation lesions. There are a few human cases reported using rapamycin treatment. The investigator's study is designed to be a prospective, nonrandomized, open-label, single-arm clinical trial to investigate its efficacy and safety. ;

Related Conditions & MeSH terms

• Blue Rubber Bleb Nevus Syndrome
• Congenital Abnormalities
• Gastrointestinal Neoplasms
• Nevus, Blue
• Skin Neoplasms
• Syndrome
• Venous Malformation

• NCT number: NCT03767660
• Study type: Interventional
• Source: Peking Union Medical College Hospital
• Contact: Jiaolin Zhou, MD
• Phone: 13910136704
• Email: conniezhjl@yahoo.com
• Status: Recruiting
• Phase: Phase 4
• Start date: July 31, 2018
• Completion date: July 1, 2022