Understanding the Transition from Normal Melanocytes to Nevus to Melanoma

NCT ID: NCT06605417

Last Updated: 2025-02-27

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

100 participants

Study Classification

OBSERVATIONAL

Study Start Date

2024-01-01

Study Completion Date

2026-11-30

Brief Summary

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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.

Detailed Description

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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.

Conditions

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Congenital Melanocytic Nevi Melanoma, Skin Nevi and Melanomas

Study Design

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Observational Model Type

CASE_CONTROL

Study Time Perspective

RETROSPECTIVE

Study Groups

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L/GCMN

Patients with congenital nevus with estimated size of 20 cm or more in adulthood (\> 18 years old)

Methylomics

Intervention Type GENETIC

Methylomics analysis of FFPE blocks and frozen tissues

RNA sequencing

Intervention Type GENETIC

RNA sequencing of FFPE blocks and frozen tissues

Spatial transcriptomics

Intervention Type GENETIC

Spatial transcriptomics of FFPE blocks and frozen tissues

Liquid biopsy

Intervention Type GENETIC

cfDNA characterization extracted from blood/saliva

Melanoma

Patients affected with Spitz-type or conventional melanomas in patients under 30 years of age

Methylomics

Intervention Type GENETIC

Methylomics analysis of FFPE blocks and frozen tissues

RNA sequencing

Intervention Type GENETIC

RNA sequencing of FFPE blocks and frozen tissues

Spatial transcriptomics

Intervention Type GENETIC

Spatial transcriptomics of FFPE blocks and frozen tissues

Liquid biopsy

Intervention Type GENETIC

cfDNA characterization extracted from blood/saliva

Interventions

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Methylomics

Methylomics analysis of FFPE blocks and frozen tissues

Intervention Type GENETIC

RNA sequencing

RNA sequencing of FFPE blocks and frozen tissues

Intervention Type GENETIC

Spatial transcriptomics

Spatial transcriptomics of FFPE blocks and frozen tissues

Intervention Type GENETIC

Liquid biopsy

cfDNA characterization extracted from blood/saliva

Intervention Type GENETIC

Eligibility Criteria

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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
Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Institut National de la Santé Et de la Recherche Médicale, France

UNKNOWN

Sponsor Role collaborator

University Hospital Tuebingen

OTHER

Sponsor Role collaborator

University of Florence

OTHER

Sponsor Role collaborator

Fondazione IRCCS Istituto Nazionale dei Tumori, Milano

OTHER

Sponsor Role collaborator

University Of Perugia

OTHER

Sponsor Role collaborator

German Cancer Research Center

OTHER

Sponsor Role collaborator

Karolinska Institutet

OTHER

Sponsor Role collaborator

Maria Sklodowska-Curie National Research Institute of Oncology

OTHER

Sponsor Role collaborator

Institut Curie

OTHER

Sponsor Role collaborator

Medical University of Gdansk

OTHER

Sponsor Role collaborator

Princess Maxima Center for Pediatric Oncology

OTHER

Sponsor Role collaborator

Institut Català d'Oncologia

OTHER

Sponsor Role collaborator

Fundacion Clinic per a la Recerca Biomédica

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Locations

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French National Institute of Health and Medical Research

Marseille, , France

Site Status RECRUITING

Hospital Clínic de Barcelona (Dermatology service)

Barcelona, , Spain

Site Status RECRUITING

Countries

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France Spain

Central Contacts

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Susana Puig Sardà, MD, PhD

Role: CONTACT

+34932275400

Adrián López Canosa, PhD

Role: CONTACT

Facility Contacts

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Heather Etchevers, PhD

Role: primary

+33491324937

Susana Puig Sardà, PhD, MD

Role: primary

+34932275400

Other Identifiers

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HORIZON-MISS-2021-CANCER-02-03

Identifier Type: OTHER_GRANT

Identifier Source: secondary_id

HCB/2023/0843

Identifier Type: -

Identifier Source: org_study_id

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