The results of the study on a mouse model of PIK3CA gain of function in endothelial cells demonstrated the development of capillary and venous malformations, which closely resemble those seen in patients with capillary venous malformations. The study also identified circulating metabolites that could potentially serve as biomarkers for disease progression.

Further investigation revealed that PIK3CA signals partially through AKT1 and not AKT2 in venous endothelial cells. Targeted therapy with alpelisib showed significant efficacy in treating the vascular malformations in the mouse model, both in preventive and therapeutic settings.

The study then progressed to treating patients with PIK3CA or TEK-related venous malformations with alpelisib. The patients experienced improvements in symptoms, reduction in the volume of vascular malformations, and changes in circulating metabolites indicative of disease improvement.

Overall, the study provides promising insights into the potential targeted therapy for venous malformations associated with PIK3CA gain of function mutations in endothelial cells. : “Effective Targeted Therapy for Capillary-Venous Malformations”

Accident – Death – Obituary News : : 1. Capillary-venous malformation treatment
2. Targeted therapy for vascular malformations

A mouse model with a gain-of-function mutation in PIK3CA targeting endothelial cells was developed to mimic capillary and venous malformations. The model showed rapid development of malformations, reduced survival, and abnormal blood counts. AKT1 and AKT2 isoforms were found to play a partial role in the phenotype. Alpelisib, a PI3Kα inhibitor, was shown to be effective in preventing and treating malformations in mice. In a clinical trial, alpelisib improved symptoms and reduced malformation volume in patients with PIK3CA or TEK mutations. Metabolomic analysis revealed potential biomarkers for disease progression. Alpelisib shows promise as a targeted therapy for venous malformations.

**Alpelisib: A Promising Treatment for Venous Malformations**

Venous malformations are a challenging condition for patients, often requiring multiple interventions to manage symptoms. However, recent research has shown promising results with a new targeted therapy called alpelisib. This drug targets the PIK3CA mutation, which is often associated with venous malformations, and has shown significant improvements in both animal models and human patients.

**Research in Animal Models: A Breakthrough in Understanding**

In a groundbreaking study, researchers developed a mouse model with a gain-of-function mutation in PIK3CA specifically targeting endothelial cells. This model accurately replicated the phenotype of patients with capillary venous malformations. Through a series of experiments, they found that alpelisib, an inhibitor of PI3Kα, was highly effective in preventing and improving vascular malformations in the mice. Alpelisib led to a reduction in malformation volume, improved overall survival, and corrected blood anomalies.

**Targeted Therapy in Human Patients: A Promising Future**

Building on the success in animal models, researchers obtained authorization to treat 25 patients with venous malformations associated with either PIK3CA or TEK mutations. These patients had not responded to previous treatments, including rapamycin. After starting alpelisib, all patients experienced improvements in symptoms such as pain and bleeding. Clinical assessments showed a reduction in malformation volume, indicating the effectiveness of alpelisib in treating venous malformations.

**Conclusion: A New Hope for Patients**

Alpelisib has emerged as a promising treatment option for venous malformations, offering hope for patients who have not responded to traditional therapies. The success of alpelisib in both animal models and human patients highlights the potential of targeted therapies in managing complex vascular conditions. With further research and clinical trials, alpelisib could revolutionize the treatment of venous malformations, providing patients with a new lease on life.

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