Klinické studie

Genová mutace KRAS G12D:

• Mosaic RASopathy due to KRAS variant G12D with segmental overgrowth and associated peripheral vascular malformations (2021)
• KRAS G12D or G12V Mutation in Human Brain Arteriovenous Malformations (2019)

Trametinib:

• Angiographic Evidence of Response to Trametinib Therapy for a Spinal Cord Arteriovenous Malformation (2021)
• Trametinib in the Treatment of Complicated Extracranial Arterial Venous Malformation (2020)
• Endothelial MAP2K1 mutations in arteriovenous malformation activate the RAS/MAPK pathway (2020)
• Genotype-Guided Medical Treatment of an Arteriovenous Malformation in a Child (2019)

Alpelisib (BYL 719):

• Targeted treatment of severe vascular malformations harboring PIK3CA and TEK mutations with alpelisib is highly efective with limited toxicity (2023)

Bleomycin:

• Surveillance Chest X-Ray and Pulmonary Function Testing in Patients Undergoing Intralesional Bleomycin in the Treatment of Vascular Malformations (2021)
• Treatment of Early-stage Extracranial Arteriovenous Malformations with Intralesional Interstitial Bleomycin Injection: A Pilot Study (2018)
• Intralesional Bleomycin Injections for Vascular Malformations: A Systematic Review and Meta-Analysis (2016)
• Comparison between absolute ethanol and bleomycin for the treatment of venous malformation in children (2013)
• The Synergistic Effect of Bleomycin, Triamcinolone and Epinephrine in Treatment of Hemangioma and Arteriovenous Malformations (2012)

Doxycyklin (Minocyklin):

• The Role of Matrix Metalloproteinase-3 in the Doxycycline Attenuation of Intracranial Venous Hypertension-Induced Angiogenesis (2018)
• Suppression of MMP-9 by doxycycline in brain arteriovenous malformations (2005)
• Doxycycline Suppresses Cerebral Matrix Metalloproteinase-9 and Angiogenesis Induced by Focal Hyperstimulation of Vascular Endothelial Growth Factor in a Mouse Model (2004)

Sirolimus (Rapamycin):

• Efficacy and safety of sirolimus in the treatment of vascular malformations (2020)
• Sirolimus in the Treatment of Vascular Anomalies (2017)
• Successful Treatment of a Complex Vascular Malformation With Sirolimus and Surgical Resection (2017)

Bevacizumab (Avastin):

• Safety of bevacizumab in patients younger than 4 years of age (2015)
• Bevacizumab Attenuates VEGF-Induced Angiogenesis and Vascular Malformations in the Adult Mouse Brain (2012)

Thalidomid (Lenalidomid):

• Concurrent thalidomide and radiation therapy for extensive arterio-venous malformations (2008)