Quantitative Assessment of the Etiologies of Megalencephaly Associated With a Detectable Tumor Risk
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
- Это наблюдательное исследование: исследуемое лечение участникам по протоколу не назначают.
- Кому может быть актуально
- Состояния в реестре: Megalocephaly. Базовые параметры: Без ограничений · 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
- Франция
- Следующий шаг
- Сохраните исследование, покажите его лечащему врачу и уточните актуальный статус у исследовательского центра. Расходы, документы и поездка →
Не всё понятно в терминах? Прочитайте наш гид для пациентов →
Официальное название
EMeRiT: Quantitative Assessment of the Etiologies of Megalencephaly Associated With a Detectable Tumor Risk
Обзор
This study will show the value of early genetic diagnosis in the case of MEG in a child and may lead to recommendations aimed at preventing tumor risk based on a simple and easily accessible clinical criterion (the measurement of head circumference). Ultimately, this study may improve cancer prognosis in the population of children with MEG.
Подробное описание
During paediatric follow-up, head circumference (CP) measurement can detect severe macrocephaly (CP ≥ +3 SD) in 1% of the population, in individuals with or without neurodevelopmental disorder (NDD). After prescribing brain imaging showing excess brain growth or megalencephaly (MEG), pediatricians can refer patients to expert centers (Rare Disease Reference Centers) for an etiologic search for MEG. Genome sequencing is then prescribed by pediatric neurologists or geneticists as part of the "cerebral malformations" pre-indication (Plan France Genomic Medicine 2025).
In the literature, more than 70 genetic causes of MEG have been identified, 9 of which are responsible for pathologies associated with a sufficiently high tumor risk (\>5%) to justify recommendations for regular screening, specific to each pathology ((Cowden, Simpson-Golabi-Behmel syndrome, Gorlin syndrome, neurofibromatosis type 1, variant in the DICER1 gene).
These genetic diseases are inconsistently associated with NDD (about 50%) and require specific follow-up to improve the oncological prognosis. The absence of an etiological diagnosis in these patients is potentially damaging and represents a theoretical loss of opportunity with regard to tumor risk. There are no large studies investigating the etiologies of MEGs, so the incidence of pathologies with tumor risk in this population remains unknown, with the exception of PTEN gene mutations, identified in 10% of patients with TND and MEG. This study will indicate the incidence of mutations in genes with tumor risk, which may eventually justify modifying current paediatric practice by recommending early etiological testing for MEGs.
Первичные конечные точки
- Characterization of the etiologies of MEGs associated with tumor risk in 200 children with or without NDD, who underwent genome sequencing. [Срок оценки: Within 6 Months after last patient inclusion]
Вторичные конечные точки (4)
- To compare the diagnostic returns of the 2 patient groups [Срок оценки: Within 6 Months after last patient inclusion]
- To establish a ranking of the yields of the 9 known MEG genes associated with tumor risk [Срок оценки: Within 6 Months after last patient inclusion]
- To identify the nature and frequency of other genetic causes of MEG, apart from the 9 targeted genes [Срок оценки: Within 6 Months after last patient inclusion]
- To establish genotype-phenotype correlations in the different etiologies found [Срок оценки: Within 6 Months after last patient inclusion]
Критерии участия
Критерии включения
- Patients with macrocephaly ≥ +3 DS due to brain MRI-confirmed MEG with or without NDD
- Patient with a proposal to investigate a genetic etiology by genome sequencing
- No objection by the patient's parents or guardians
- Patients affiliated to a social security scheme
Критерии исключения
- Patients with an etiological diagnosis of its MEG
- Patients who have previously undergone genetic testing as part of their MEG, with or without a diagnosis
- Patients who have not received the standard-of-care genetic analysis, specifically whole genome sequencing
Критерии приведены из реестра в оригинале (на английском). Окончательную оценку соответствия проводит исследовательский центр.
Дизайн исследования
- Модель наблюдения
- Когортное
Центры проведения
Франция · 1 центр
- service Génétique clinique Pitié-Salpêtrière / Trousseau — Paris
Идентификаторы
NCT: NCT07142772 · APHP231309