Study of Trametinib Treatment for Hypertrophic Cardiomyopathy in Children and Teens With RASopathies

What this Trial Is About

This research aims to evaluate the effectiveness of trametinib treatment in children and adolescents aged 0 to 18 years who have hypertrophic cardiomyopathy HCM caused by genetic mutations in the RASMAPK pathway, conditions known as RASopathies, including Noonan syndrome. These genetic mutations lead to severe heart muscle thickening, and while MEK kinase inhibitors like trametinib are used for certain cancers with similar mutations, their impact on HCM in RASopathies requires thorough study. Participants will be randomly assigned to one of two groups for the first three months one group will receive trametinib along with standard treatment beta-blockers and disopyramide, and the other group will receive only the standard treatment. After this phase, if trametinib shows greater effectiveness, the control group will also start trametinib for a 12-month period while the initial trametinib group continues its treatment. Trametinib is given orally once daily at a dose of 0.025 mgkg, and the standard therapy includes oral disopyramide and beta-blockers. During the study, participants will undergo assessments including echocardiography and laboratory tests to monitor heart muscle thickness and enzyme levels over one year. Additional evaluations include measuring MEK kinase activity at six months and cardiac magnetic resonance imaging at one year. These tests will help determine the treatments impact and safety. The overall study duration includes the initial phase and an extended treatment phase lasting up to 12 months, with ongoing monitoring to assess treatment effects and patient health.

MEK Inhibitors for the Treatment of Hypertrophic Cardiomyopathy in Patients With RASopathies