NCT06555237

Brief Summary

The goal of this study is to evaluate the effectiveness of trametinib treatment in patients with Hyperthropic cardiomyopathy and a genetic mutation in the RAS/MAPK pathway.

Trial Health

77
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
40

participants targeted

Target at P25-P50 for phase_2

Timeline
7mo left

Started Aug 2024

Geographic Reach
1 country

1 active site

Status
recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Progress76%
Aug 2024Dec 2026

Study Start

First participant enrolled

August 1, 2024

Completed
11 days until next milestone

First Submitted

Initial submission to the registry

August 12, 2024

Completed
3 days until next milestone

First Posted

Study publicly available on registry

August 15, 2024

Completed
2 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

August 1, 2026

Expected
4 months until next milestone

Study Completion

Last participant's last visit for all outcomes

December 1, 2026

Last Updated

August 15, 2024

Status Verified

August 1, 2024

Enrollment Period

2 years

First QC Date

August 12, 2024

Last Update Submit

August 12, 2024

Conditions

Keywords

Noonan syndromeMEK kinaseRASOpathiesChildrenCardiomyopathy

Outcome Measures

Primary Outcomes (2)

  • Effectiveness of the trametynib treatment on cardiac hyperthropy

    Reduction of cardiac hypertrophy and/or LVOTO at 6 and 12 months of treatment and at 3 months of follow-up after treatment discontinuation using echocardiographic examination.

    1 year

  • Effectiveness of the trametynib treatment on laboratory enzymes levels

    Decrease in cardiac enzyme levels (NT-pro-BNP and high-sensitivity troponin I) determined in the 6th and 12th month of treatment and in the 3rd month of observation after its discontinuation.

    1 year

Secondary Outcomes (2)

  • MEK kinase activity

    6 months

  • Effectivness of the trametynib treatment assessed in the cardia magnetic resonance

    1 year

Study Arms (2)

Trametynib

EXPERIMENTAL

Trametynib in 0,025mg/kg dose orally once daily

Drug: Trametinib tablet

Standard therapy

ACTIVE COMPARATOR

Disopiramide and Beta-blocker orally

Drug: Standard therapy

Interventions

Trametynib orally once daily in 0,025mg/kg dose

Trametynib

Disopiramide and Beta blockers orally

Standard therapy

Eligibility Criteria

Age1 Day - 18 Years
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64)

You may qualify if:

  • patient with diagnosed RASopathy
  • patient with diagnosed hypertrophic cardiomyopathy
  • signed innform consent

You may not qualify if:

  • contraindications to treatment with propranolol (drug hypersensitivity, atrioventricular block, severe bradycardia) disopyramide (drug hypersensitivity, WPW syndrome, atrioventricular block, QT prolongation) trametinib (drug hypersensitivity)
  • lack of consent of the child's guardians to participate in the study

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Department of Paediatrics, The Medical University of Warsaw, Poland

Warsaw, 02-091, Poland

RECRUITING

Related Publications (1)

  • De Brouchoven I, Lorand J, Bofferding L, Sorlin A, Van Damme A, Danhaive O. Trametinib as a targeted treatment in cardiac and lymphatic presentations of Noonan syndrome. Front Pediatr. 2025 Feb 18;13:1475143. doi: 10.3389/fped.2025.1475143. eCollection 2025.

MeSH Terms

Conditions

CardiomegalyNoonan SyndromeCardiomyopathies

Interventions

trametinibStandard of Care

Condition Hierarchy (Ancestors)

Heart DiseasesCardiovascular DiseasesHypertrophyPathological Conditions, AnatomicalPathological Conditions, Signs and SymptomsCraniofacial AbnormalitiesMusculoskeletal AbnormalitiesMusculoskeletal DiseasesHeart Defects, CongenitalCardiovascular AbnormalitiesCongenital AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesConnective Tissue DiseasesSkin and Connective Tissue Diseases

Intervention Hierarchy (Ancestors)

Quality Indicators, Health CareQuality of Health CareHealth Services AdministrationHealth Care Quality, Access, and Evaluation

Study Officials

  • MAciej Kołodziej, MD

    Medical University of Warsaw

    PRINCIPAL INVESTIGATOR

Central Study Contacts

Maciej Kołodziej, MD

CONTACT

Halszka Kamińska, MD

CONTACT

Study Design

Study Type
interventional
Phase
phase 2
Allocation
RANDOMIZED
Masking
NONE
Purpose
TREATMENT
Intervention Model
PARALLEL
Model Details: Randomized control trial
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

August 12, 2024

First Posted

August 15, 2024

Study Start

August 1, 2024

Primary Completion (Estimated)

August 1, 2026

Study Completion (Estimated)

December 1, 2026

Last Updated

August 15, 2024

Record last verified: 2024-08

Locations