Understanding the Transition from Normal Melanocytes to Nevus to Melanoma

Study Purpose

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.

Recruitment Criteria

Accepts Healthy Volunteers

Healthy volunteers are participants who do not have a disease or condition, or related conditions or symptoms

No
Study Type

An interventional clinical study is where participants are assigned to receive one or more interventions (or no intervention) so that researchers can evaluate the effects of the interventions on biomedical or health-related outcomes.


An observational clinical study is where participants identified as belonging to study groups are assessed for biomedical or health outcomes.


Searching Both is inclusive of interventional and observational studies.

Observational
Eligible Ages N/A and Over
Gender All
More Inclusion & Exclusion Criteria

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

Trial Details

Trial ID:

This trial id was obtained from ClinicalTrials.gov, a service of the U.S. National Institutes of Health, providing information on publicly and privately supported clinical studies of human participants with locations in all 50 States and in 196 countries.

NCT06605417
Phase

Phase 1: Studies that emphasize safety and how the drug is metabolized and excreted in humans.

Phase 2: Studies that gather preliminary data on effectiveness (whether the drug works in people who have a certain disease or condition) and additional safety data.

Phase 3: Studies that gather more information about safety and effectiveness by studying different populations and different dosages and by using the drug in combination with other drugs.

Phase 4: Studies occurring after FDA has approved a drug for marketing, efficacy, or optimal use.

Lead Sponsor

The sponsor is the organization or person who oversees the clinical study and is responsible for analyzing the study data.

Fundacion Clinic per a la Recerca Biomédica
Principal Investigator

The person who is responsible for the scientific and technical direction of the entire clinical study.

N/A
Principal Investigator Affiliation N/A
Agency Class

Category of organization(s) involved as sponsor (and collaborator) supporting the trial.

Other
Overall Status Recruiting
Countries France, Spain
Conditions

The disease, disorder, syndrome, illness, or injury that is being studied.

Congenital Melanocytic Nevi, Melanoma, Skin, Nevi and Melanomas
Additional Details

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.

Arms & Interventions

Arms

: L/GCMN

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

: Melanoma

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

Interventions

Genetic: - Methylomics

Methylomics analysis of FFPE blocks and frozen tissues

Genetic: - RNA sequencing

RNA sequencing of FFPE blocks and frozen tissues

Genetic: - Spatial transcriptomics

Spatial transcriptomics of FFPE blocks and frozen tissues

Genetic: - Liquid biopsy

cfDNA characterization extracted from blood/saliva

Contact a Trial Team

If you are interested in learning more about this trial, find the trial site nearest to your location and contact the site coordinator via email or phone. We also strongly recommend that you consult with your healthcare provider about the trials that may interest you and refer to our terms of service below.

International Sites

Marseille, France

Status

Recruiting

Address

French National Institute of Health and Medical Research

Marseille, ,

Site Contact

Heather Etchevers, PhD

[email protected]

+33491324937

Barcelona, Spain

Status

Recruiting

Address

Hospital Clínic de Barcelona (Dermatology service)

Barcelona, ,

Site Contact

Susana Puig Sardà, PhD, MD

[email protected]

+34932275400

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