Идёт набор NCT06828822

CongenItal Naevus Cohort for Longitudinal Evaluation

Без фазы С лечением Naevi Neurodevelopmental Disorder Congenital Nevus

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: Neurodevelopmental assessment, Meeting with the parents, Patient quality of life assessment.
Кому может быть актуально: Состояния в реестре: Naevi, Neurodevelopmental Disorder, Congenital Nevus. Базовые параметры: 0 лет — 24 мес. · 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 →

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Официальное название

CIRCLE : CongenItal Naevus Cohort for Longitudinal Evaluation

Обзор

Congenital Nevus (CN) is a pigmented skin lesion present at birth, which grows in size as the child grows. It can vary in appearance and is classified by its size, from small (less than 1.5 cm) to giant (greater than 40 cm). CN is associated with genetic mutations, mainly in the NRAS/BRAF genes. A large CN can lead to several clinical issues, including: Risk of neurological disorders: Large CN can be associated with neurological abnormalities such as neuro-meningeal melanosis, hydrocephalus, or brain malformations. These conditions may cause early neuro-developmental delays. The risk is not well understood and requires further studies. Risk of melanoma: The risk of developing melanoma is higher for a large CN but remains low for smaller ones. Increased monitoring is necessary during the early years for large and giant CN. Psycho-social impact: Parents often experience significant anxiety at birth due to the cancer risk and social stigma. As the child grows, a visible CN may impact their quality of life, particularly socially at school. Management of CN remains controversial, especially for those of medium to giant size or with multiple satellites. There is an urgent need for further research to clarify best practices in monitoring and treatment, including the need for routine brain imaging and criteria for surgical intervention. Ultimately, this study aims to deepen our understanding of CN, its associated neurological and melanoma risks, and the psycho-social challenges it poses, while striving to establish clear, evidence-based guidelines for monitoring and treatment to enhance patient outcomes and quality of life.

Вмешательства

Другое Neurodevelopmental assessment
This assessment will be conducted using the ASQ-3 test. (ASQ-3 stands for Ages and Stages Questionnaires, Third Edition, which is a common screening tool for evaluating developmental progress in young children.)
Другое Meeting with the parents
This meeting will evaluate the parents' acceptance of the lesion and their quality of life using the MARKS test (Measure of Acceptance of Skin Marks). The results will provide insights into how the parents perceive the lesion and how it impacts their daily lives.
Другое Patient quality of life assessment
Collection of patient quality of life data

Первичные конечные точки

Determine the prevalence of neurodevelopmental abnormalities in infants and young children with medium to giant congenital nevus, and according to nevus characteristics (size, number), at the age of 3 years. [Срок оценки: 3 years.]

Вторичные конечные точки (10)

The occurrence of other neurological abnormalities (early epilepsy, etc.), screening for psychomotor developmental delays. [Срок оценки: 3 years]
The prevalence of neurological abnormalities on MRI (Magnetic Resonance Imaging), both absolutely and according to the characteristics of the congenital nevus. [Срок оценки: 3 years.]
The occurrence of early melanoma or another tumor. [Срок оценки: 3 years.]
The evolution of the clinical characteristics of the congenital nevus (size, color, texture, number of satellites), and associated functional signs (pruritus). [Срок оценки: 3 years.]
Description of the histopathological characteristics of the congenital nevus (if available) following excision or biopsy. [Срок оценки: 3 years.]
Description of the molecular characteristics of the congenital nevus (if available) following excision or biopsy. [Срок оценки: 3 years.]
Parental satisfaction of cares management and surgery. [Срок оценки: 3 years.]
Lesion acceptance and quality of life. [Срок оценки: 3 years.]
Identification of factors influencing the clinical care pathway and their correlation on health outcomes. [Срок оценки: 3 years.]
Identification of the patient's well-being using the Cartoon CDLQI test. [Срок оценки: 3 years.]

Критерии участия

Критерии включения

Patient under 2 years old.
Patient with a medium, large, or giant congenital nevus (CN) according to the Krengel classification, either single or multiple.
Patient affiliated with social security.
Patient whose legal representatives consent to their child's participation in the project.