A breakthrough study published in the New England Journal of Medicine has shed light on a potential treatment for vascular malformations associated with a specific genetic mutation. The research, conducted by a team of medical professionals led by Antoine Fraissenon, M.D., and Guillaume Canaud, M.D., Ph.D., focuses on the effectiveness of sotorasib, a KRAS G12C inhibitor, in reducing the volume of these malformations.

The study, which was supported by various research grants and foundations, highlights the promising results of administering sotorasib to mouse models with the KRAS G12C mutation. The treatment not only reduced the size of the malformations but also improved survival rates in the mice. Encouraged by these findings, the researchers then tested sotorasib on two adult patients with severe KRAS G12C-related arteriovenous malformations.

Both patients experienced rapid reductions in symptoms and malformation size after receiving the treatment. This breakthrough suggests that targeting the KRAS G12C mutation could be a viable therapeutic approach for individuals with KRAS G12C-related vascular malformations.

The study, which was published on July 17, 2024, underscores the importance of ongoing research in the field of genetic mutations and potential treatment options for related conditions. As the medical community continues to explore targeted therapies for specific genetic abnormalities, the findings of this study offer hope for patients with vascular malformations linked to the KRAS G12C mutation.