MEK Inhibitors for the Treatment of Hypertrophic Cardiomyopathy in Patients With RASopathies
Ориентир для пациента и семьи
Простыми словами
Автоматическая сводка по структурированным данным реестра. Она помогает сориентироваться, но не заменяет официальный протокол или оценку врача.
- Что изучают
- В протоколе указаны: Trametinib tablet, Standard therapy.
- Кому может быть актуально
- Состояния в реестре: Cardiomegaly, Noonan Syndrome. Базовые параметры: 1 Day — 18 лет · Все.
- Что важно проверить
- Возраст, диагноз и пол — только базовые ориентиры. Предыдущее лечение, анализы и другие обязательные условия указаны ниже в критериях участия.
- Где проводится
- Польша
- Следующий шаг
- Сохраните исследование, покажите его лечащему врачу и уточните актуальный статус у исследовательского центра. Расходы, документы и поездка →
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Официальное название
MEK Inhibitors for the Treatment of Hypertrophic Cardiomyopathy in Patients With RASopathies (MEKinRAS) - Randomized Controlled Trial
Обзор
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.
Подробное описание
Introduction RASopathies are a group of genetic diseases caused by mutations in the mitogen-activated kinase (RAS-MAPK) pathway. These mutations affect many processes and are the cause of numerous genetic syndromes (including Noonan syndrome) in the course of which severe hypertrophic cardiomyopathy (HCM) develops. MEK kinase inhibitors are used to treat cancers with mutations in the RAS-MAPK pathway in adults. So far, single cases of HCM treatment in patients with RASopathies have been described, with rapid improvement in both laboratory and echocardiographic parameters and regression of myocardial hypertrophy. Due to the described effectiveness, it is reasonable to verify these effects in a well-designed randomized study on a large group of patients.
Objective To evaluate the effectiveness of trametinib treatment in patients with HCM and a genetic mutation in the RAS/MAPK pathway.
Methodology
Randomized, open-label study. The study will include patients aged 0 to 18 with:
* mutation in the RAS/MAPK pathway confirmed by genetic tests * HCM diagnosed by echocardiography
In the first phase of the study (3 months), patients will be randomly assigned to one of two groups:
* the intervention group will receive trametinib and standard treatment (beta-blocker and disopyramide) * the control group will receive only standard treatment. Once this phase is complete, patients will be assessed. If higher effectiveness is demonstrated in the intervention group, in the second phase of the study, patients in the intervention group will continue their current treatment and patients in the control group will receive trametinib treatment. Each group will receive trametinib for 12 months.
Importance of the study The study results will provide grounds for routine introduction of MEK kinase inhibitors for the treatment of patients with HCM due to RASopathy. If effectiveness is demonstrated, this group will gain a simple, non-invasive and causal treatment option.
Вмешательства
- Препарат Trametinib tablet
Trametynib orally once daily in 0,025mg/kg dose - Препарат Standard therapy
Disopiramide and Beta blockers orally
Первичные конечные точки
- Effectiveness of the trametynib treatment on cardiac hyperthropy [Срок оценки: 1 year]
- Effectiveness of the trametynib treatment on laboratory enzymes levels [Срок оценки: 1 year]
Вторичные конечные точки (2)
- MEK kinase activity [Срок оценки: 6 months]
- Effectivness of the trametynib treatment assessed in the cardia magnetic resonance [Срок оценки: 1 year]
Критерии участия
Критерии включения
- patient with diagnosed RASopathy
- patient with diagnosed hypertrophic cardiomyopathy
- signed innform consent
Критерии исключения
- 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
Критерии приведены из реестра в оригинале (на английском). Окончательную оценку соответствия проводит исследовательский центр.
Здоровые добровольцы: Нет
Дизайн исследования
- Распределение
- Рандомизированное
- Модель
- Параллельные группы
- Маскирование
- Открытое
- Основная цель
- Лечение
Центры проведения
Польша · 1 центр
- Department of Paediatrics, The Medical University of Warsaw, Poland — Warsaw
Публикации
- 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. PMID 40041314
Идентификаторы
NCT: NCT06555237 · KB/16/2024