Trametinib as a targeted treatment in cardiac and lymphatic presentations of Noonan syndrome.
Isabel De Brouchoven, Juan Lorand, Léon Bofferding...
https://pubmed.ncbi.nlm.nih.gov/40041314Actively Recruiting
Phase 2
Age: 1Day - 18Years
All Genders
ID06555237
MEK Inhibitors for the Treatment of Hypertrophic Cardiomyopathy in Patients With RASopathies (MEKinRAS) - Randomized Controlled Trial
Led by Medical University of Warsaw · Updated on 2024-08-15
40
Participants Needed
1
Research Sites
17 weeks
Total Duration
On this page
AI-Summary
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 RAS/MAPK 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 mg/kg, 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 treatment's 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.
CONDITIONS
Brief Title
MEK Inhibitors for the Treatment of Hypertrophic Cardiomyopathy in Patients With RASopathies
Who Can Participate
Age: 1Day - 18Years
All Genders
Eligibility Criteria
You may qualify if you...
- Patient with diagnosed RASopathy
- Patient with diagnosed hypertrophic cardiomyopathy
- Signed informed consent
You will not qualify if you...
- Allergy or hypersensitivity to propranolol, disopyramide, or trametinib
- Contraindications to propranolol such as atrioventricular block or severe bradycardia
- Contraindications to disopyramide including Wolff-Parkinson-White syndrome, atrioventricular block, or QT prolongation
- Lack of consent from the child's guardians to participate in the study
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
1
2
3
Your Study Journey
Screening
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
screening and enrollment visit
Treatment
Duration - Up to 15 months
Participants receive trametinib and standard therapy or standard therapy alone for the first 3 months, followed by 12 months of trametinib treatment for all participants depending on group assignment.
Visits occur throughout the treatment phases to monitor response and safety
Trial Site Locations
Total: 1 location
1
Department of Paediatrics, The Medical University of Warsaw, Poland
Warsaw, Poland, 02-091
Actively Recruiting
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Research Team
M
Maciej Kołodziej, MD
H
Halszka Kamińska, MD
How is the study designed?
Study Type
INTERVENTIONAL
Masking
NONE
Allocation
RANDOMIZED
Model
PARALLEL
Primary Purpose
TREATMENT
Number of Arms
2
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