NCT06605417

Brief Summary

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.

Trial Health

80
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
100

participants targeted

Target at P50-P75 for all trials

Timeline
6mo left

Started Jan 2024

Typical duration for all trials

Geographic Reach
2 countries

2 active sites

Status
recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Progress81%
Jan 2024Nov 2026

Study Start

First participant enrolled

January 1, 2024

Completed
9 months until next milestone

First Submitted

Initial submission to the registry

September 18, 2024

Completed
2 days until next milestone

First Posted

Study publicly available on registry

September 20, 2024

Completed
1.5 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

March 31, 2026

Completed
8 months until next milestone

Study Completion

Last participant's last visit for all outcomes

November 30, 2026

Expected
Last Updated

February 27, 2025

Status Verified

September 1, 2024

Enrollment Period

2.2 years

First QC Date

September 18, 2024

Last Update Submit

February 25, 2025

Conditions

Congenital Melanocytic NeviMelanoma, SkinNevi and Melanomas

Keywords

Congenital melanocytic neviMelanomaLiquid biopsycfDNAMethylomicsL/GCMNRNAseqMolecular profiles

Outcome Measures

Primary Outcomes (1)

  • Molecular identity profiles

    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)

    26 months

Secondary Outcomes (3)

  • cfDNA profiles

    26 months

  • Improve the early diagnosis and treatment of L/GCMN

    26 months

  • Test pre-clinical strategies for L/GCMN

    26 months

Study Arms (2)

L/GCMN

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

Genetic: MethylomicsGenetic: RNA sequencingGenetic: Spatial transcriptomicsGenetic: Liquid biopsy

Melanoma

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

Genetic: MethylomicsGenetic: RNA sequencingGenetic: Spatial transcriptomicsGenetic: Liquid biopsy

Interventions

MethylomicsGENETIC

Methylomics analysis of FFPE blocks and frozen tissues

L/GCMNMelanoma
RNA sequencingGENETIC

RNA sequencing of FFPE blocks and frozen tissues

L/GCMNMelanoma
Spatial transcriptomicsGENETIC

Spatial transcriptomics of FFPE blocks and frozen tissues

L/GCMNMelanoma
Liquid biopsyGENETIC

cfDNA characterization extracted from blood/saliva

L/GCMNMelanoma

Eligibility Criteria

Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

Review and/or analysis of pre-existing medical records, biological samples and data collected from patients that have been visited at the different participating hospitals.

You may qualify if:

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

You may not qualify if:

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

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (2)

French National Institute of Health and Medical Research

Marseille, France

RECRUITING

Hospital Clínic de Barcelona (Dermatology service)

Barcelona, Spain

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

* Cell-free DNA will be extracted from patient\'s blood and saliva. * DNA and RNA extracted from Formalin-Fixed Paraffin-Embedded (FFPE) patient tissues.

MeSH Terms

Conditions

MelanomaNevi and Melanomas

Interventions

Sequence Analysis, RNALiquid Biopsy

Condition Hierarchy (Ancestors)

Neuroendocrine TumorsNeuroectodermal TumorsNeoplasms, Germ Cell and EmbryonalNeoplasms by Histologic TypeNeoplasmsNeoplasms, Nerve TissueSkin NeoplasmsNeoplasms by SiteSkin DiseasesSkin and Connective Tissue Diseases

Intervention Hierarchy (Ancestors)

Sequence AnalysisGenetic TechniquesInvestigative TechniquesBiopsyCytodiagnosisCytological TechniquesClinical Laboratory TechniquesDiagnostic Techniques and ProceduresDiagnosisSpecimen Handling

Central Study Contacts

Susana Puig Sardà, MD, PhD

CONTACT

+34932275400spuig@clinic.cat

Adrián López Canosa, PhD

CONTACT

lopez64@recerca.clinic.cat

Study Design

Study Type
observational
Observational Model
CASE CONTROL
Time Perspective
RETROSPECTIVE
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

September 18, 2024

First Posted

September 20, 2024

Study Start

January 1, 2024

Primary Completion

March 31, 2026

Study Completion (Estimated)

November 30, 2026

Last Updated

February 27, 2025

Record last verified: 2024-09

Locations

FR(1)ES(1)