CongenItal Naevus Cohort for Longitudinal Evaluation

Official title

CIRCLE : CongenItal Naevus Cohort for Longitudinal Evaluation

Overview

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.

Interventions

• 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

Primary outcome measures

• 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. [Time frame: 3 years.]

Secondary outcome measures (10)

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

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.

Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.

Healthy volunteers: No

Study design

Allocation

Non-randomized

Model

Parallel assignment

Masking

Open label

Primary purpose

Screening

Study locations

France · 16 centers

• Grasse Hospital — Nice
• Nice University Hospital and Lenval Hospital — Nice
• Marseille University Hospital — Marseille
• Dijon University Hospital — Dijon
• La Réunion University Hospital — La Réunion
• Brest University Hospital — Brest
• Bordeaux University Hospital — Bordeaux
• Toulouse University Hospital — Toulouse
• … and 8 more centers

Identifiers

NCT: NCT06828822 · RC24_0532

Primary sources (government registries)

• ClinicalTrials.gov (US NIH)

View this study on ClinicalTrials.gov ↗