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NCT Number: NCT06605417

Understanding the Transition from Normal Melanocytes to Nevus to Melanoma

The primary objective of this study is to identify the molecular identity profiles of all cellular states that characterize the progression from benign nevi to malignant melanoma in CAYA patients with L/GCMN. The secondary objectives are:

* To longitudinally characterize the cell-free DNA (cfDNA) from CAYA patients. * To improve the early diagnosis and treatments for intermediate conditions such as L/GCMN through evidence-based interpretation of personal risk from endogenous or exogenous sources. * To test pre-clinical strategies to best model and improve patient response.

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Key information

Conditions

Congenital Melanocytic Nevi Melanoma Melanoma, Skin Neoplasms Neoplasms by Histologic Type Neoplasms by Site Neoplasms, Germ Cell and Embryonal Neoplasms, Nerve Tissue Neuroectodermal Tumors Neuroendocrine Tumors Nevi and Melanomas Skin Diseases Skin Neoplasms Skin and Connective Tissue Diseases

Sex eligibility

All sexes

Study type

Observational

Primary location

French National Institute of Health and Medical Research, Marseille, France

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About this study

NevustoMel is an international multicentric retrospective cohort study with molecular and experimental design. It will involve the genomic characterization of cell-free DNA and affected tissues from patients. Methylomics and single-cell multi-omics will be used to identify co-existing molecular (transcriptional and epigenomic) states at single-cell level and will be generated from affected tissues. These results will be exploited using machine learning-assisted integration of multi-modal transcriptomics, epigenomics and spatial information. Integrated analyses of single-nucleus RNA sequencing from a selection of frozen tissues and spatial transcriptomics on formalin-fixed paraffin-embedded samples will allow the comparison of the findings to ground-state Human Developmental Cell Atlas data. Distinctions will be validated either with in situ hybridization (such as RNA sequencing) or immunostaining on test cohort tissues. These results will be complemented with in vitro functional analyses, high throughput sequencing and bioinformatic analyses.

Who can participate

Healthy volunteers accepted: No

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

Inclusion criteria

  • Congenital nevus with estimated size of 20 cm
  • Be over 18 years of age

Exclusion criteria

  • No available biological material
  • Not having signed the informed consent

Treatment and study plan

Methylomics

Genetic

Methylomics analysis of FFPE blocks and frozen tissues

RNA sequencing

Genetic

RNA sequencing of FFPE blocks and frozen tissues

Spatial transcriptomics

Genetic

Spatial transcriptomics of FFPE blocks and frozen tissues

Liquid Biopsy

Genetic

cfDNA characterization extracted from blood/saliva

Primary outcomes

  1. Molecular identity profiles

    Time frame: 26 months

    Molecular identity profiles of all cellular states that characterize the progression from benign nevi to malignant melanoma in children, adolescents and young adults (CAYA) patients with large/giant congenital melanocytic nevi (L/GCMN)

Secondary outcomes

  1. cfDNA profiles

    Time frame: 26 months

    Longitudinal characterization of the cell-free DNA (cfDNA) of CAYA patients

  2. Improve the early diagnosis and treatment of L/GCMN

    Time frame: 26 months

    Improve the early diagnosis and treatments for intermediate conditions such as L/GCMN through evidence-based interpretation of personal risk from endogenous or exogenous sources.

  3. Test pre-clinical strategies for L/GCMN

    Time frame: 26 months

    Test pre-clinical strategies to best model and improve patient response with intermediate lesions such as L/GCMN

Study contacts

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

Adrián López Canosa, PhD

CONTACT

[email protected]

Susana Puig Sardà, MD, PhD

CONTACT

[email protected]

+34932275400

Sponsors and collaborators

Lead sponsor

Fundacion Clinic per a la Recerca Biomédica

Other

Collaborators

  • Fondazione IRCCS Istituto Nazionale dei Tumori, Milano
  • German Cancer Research Center
  • Institut Català d'Oncologia
  • Institut Curie
  • Institut National de la Santé Et de la Recherche Médicale, France
  • Karolinska Institutet
  • Maria Sklodowska-Curie National Research Institute of Oncology
  • Medical University of Gdansk
  • Princess Maxima Center for Pediatric Oncology
  • University Hospital Tuebingen
  • University Of Perugia
  • University of Florence

Registry information

Official study title

Understanding the Transition from Normal Melanocytes to Nevus to Melanoma (NevustoMel)

Acronym: NevustoMel

Important dates

Study start
2024
Primary completion
2026
Study completion
2026
First posted
Sep 20, 2024
Registry last updated
Feb 27, 2025

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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