Clinical trial NCT06828822: CongenItal Naevus Cohort for Longitudinal Evaluation
Official title: CIRCLE : CongenItal Naevus Cohort for Longitudinal Evaluation
Study type: INTERVENTIONAL
Overall status: NOT_YET_RECRUITING
Phase: NA
Conditions: Naevi
Neurodevelopmental Disorder
Congenital Nevus
Keywords: Congenital Nevus
Neurodevelopmental Disorder
Lead sponsor: Nantes University Hospital
Sponsor class: OTHER
First posted: 2025-02-14
Enrollment: 819
Sex: ALL
Minimum age (years): 0
Maximum age (years): 24
Standard ages: CHILD
Accepts healthy volunteers: no
Allocation: NON_RANDOMIZED
Intervention model: PARALLEL
Primary purpose: SCREENING

Brief summary: 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.


Eligibility criteria: Inclusion Criteria:

* 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.

Exclusion Criteria:

* Patient with light brown spots or pigmented lesions not classified as nevi.
* Patient for whom It is impossible to establish annual follow-up.
* Patient whose parents do not speak French.

Primary outcomes:
measure: 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.
timeFrame: 3 years.
Secondary outcomes:
measure: The occurrence of other neurological abnormalities (early epilepsy, etc.), screening for psychomotor developmental delays.
timeFrame: 3 years
measure: The prevalence of neurological abnormalities on MRI (Magnetic Resonance Imaging), both absolutely and according to the characteristics of the congenital nevus.
timeFrame: 3 years.
measure: The occurrence of early melanoma or another tumor.
timeFrame: 3 years.
measure: The evolution of the clinical characteristics of the congenital nevus (size, color, texture, number of satellites), and associated functional signs (pruritus).
timeFrame: 3 years.
measure: Description of the histopathological characteristics of the congenital nevus (if available) following excision or biopsy.
timeFrame: 3 years.
measure: Description of the molecular characteristics of the congenital nevus (if available) following excision or biopsy.
timeFrame: 3 years.
measure: Parental satisfaction of cares management and surgery.
timeFrame: 3 years.
measure: Lesion acceptance and quality of life.
timeFrame: 3 years.
measure: Identification of factors influencing the clinical care pathway and their correlation on health outcomes.
timeFrame: 3 years.
measure: Identification of the patient's well-being using the Cartoon CDLQI test.
timeFrame: 3 years.
Other outcomes:
Locations:
city: Nice
country: France
facility: Grasse Hospital
state: Alpes-Maritimes
city: Nice
country: France
facility: Nice University Hospital and Lenval Hospital
state: Alpes-Maritimes
city: Marseille
country: France
facility: Marseille University Hospital
state: Bouches-du-Rhône
city: Dijon
country: France
facility: Dijon University Hospital
state: Côte-d'Or
city: La Réunion
country: France
facility: La Réunion University Hospital
state: Département et région d'outre-mer
city: Brest
country: France
facility: Brest University Hospital
state: Finistère
city: Bordeaux
country: France
facility: Bordeaux University Hospital
state: Gironde
city: Toulouse
country: France
facility: Toulouse University Hospital
state: Haute-Garonne
city: Rennes
country: France
facility: Rennes University Hospital
state: Ille-et-Vilaine
city: Tours
country: France
facility: Tours University Hospital
state: Indre-et-Loire
city: Nantes
country: France
facility: Nantes University Hospital
state: Loire Atlantique
city: Angers
country: France
facility: Angers University Hospital
state: Maine et Loire
city: Nancy
country: France
facility: Nancy University Hospital
state: Meurthe-et-Moselle
city: Lille
country: France
facility: Saint Vincent de Paul Hospital
state: Nord
city: Paris
country: France
facility: Paris Necker Hospital
Study officials:
References: