NCT06828822

CongenItal Naevus Cohort for Longitudinal Evaluation

CIRCLE : CongenItal Naevus Cohort for Longitudinal Evaluation

• Status: Recruiting
• Phase: N/A
• Study type: Interventional
• Enrollment: 819 (estimated)
• Sponsor: Nantes University Hospital · Academic / Other
• Sex: All
• Age: 0 Years – 24 Months
• Healthy volunteers: Not accepted

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.

Conditions

• Naevi
• Neurodevelopmental Disorder
• Congenital Nevus

Interventions

Type	Name	Description
OTHER	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.)
OTHER	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.
OTHER	Patient quality of life assessment	Collection of patient quality of life data

Timeline

• Start date: 2025-07-23
• Primary completion: 2031-07-23
• Completion: 2031-07-23
• First posted: 2025-02-14
• Last updated: 2026-03-09

Locations

16 sites across 1 country: France