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NCT Number: NCT06828822

CongenItal Naevus Cohort for Longitudinal Evaluation

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.

Recruiting

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Key information

Age range

0 year–24 month

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

Grasse Hospital, Nice, Alpes-Maritimes, France

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Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

neurodevelopmental assessment

Other

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.)

Meeting with the parents

Other

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.

Patient quality of life assessment

Other

Collection of patient quality of life data

Primary outcomes

  1. 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.

    This assessment will be conducted using the ASQ-3 (Ages and Stages Questionnaires, Third Edition).

Secondary outcomes

  1. The occurrence of other neurological abnormalities (early epilepsy, etc.), screening for psychomotor developmental delays.

    Time frame: 3 years

  2. 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.

  3. The occurrence of early melanoma or another tumor.

    Time frame: 3 years.

  4. 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.

    According to the Krengel classification 1 (size, projected adult size, number of satellites) and assessment of color, roughness, hair growth, pruritus/eczematization, and proliferative nodules.

  5. Description of the histopathological characteristics of the congenital nevus (if available) following excision or biopsy.

    Time frame: 3 years.

    If an excision or biopsy is performed, it will be possible to provide the histopathological characteristics of the congenital nevus (CN).

  6. Description of the molecular characteristics of the congenital nevus (if available) following excision or biopsy.

    Time frame: 3 years.

    If an excision or biopsy is performed, it will be possible to provide the molecular characteristics of the congenital nevus (CN).

  7. Parental satisfaction of cares management and surgery.

    Time frame: 3 years.

    Parental satisfaction with the management and surgery, if performed, and evaluation of the patient's satisfaction with the intervention using a Visual Analog Scale (VAS).

  8. Lesion acceptance and quality of life.

    Time frame: 3 years.

    The parents' acceptance of the lesion and their quality of life will be evaluated 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.

  9. Identification of factors influencing the clinical care pathway and their correlation on health outcomes.

    Time frame: 3 years.

  10. Identification of the patient's well-being using the Cartoon CDLQI test.

    Time frame: 3 years.

    The Cartoon Children's Dermatology Life Quality Index (Cartoon CDLQI) is a version of the Children's Dermatology Life Quality Index (CDLQI) designed to make assessing the quality of life in children with skin diseases more engaging and accessible for younger children. (Scale from 1 to 4 ; with 4 being the worst outcome ( "a lot" ) and 1 being the best ("not at all").

Study contacts

Contact information is provided by the study sponsor or research team.

Hélène AUBERT, M.D.

CONTACT

[email protected]

Research and Innovation Department of Nantes UH

CONTACT

[email protected]

+33253482810

Sponsors and collaborators

Lead sponsor

Nantes University Hospital

Other

Registry information

Official study title

CIRCLE : CongenItal Naevus Cohort for Longitudinal Evaluation

Acronym: CIRCLE

Important dates

Study start
2025
Primary completion
2031
Study completion
2031
First posted
Feb 14, 2025
Registry last updated
Mar 9, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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