Understanding the Transition from Normal Melanocytes to Nevus to Melanoma
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: Methylomics, RNA sequencing, Spatial transcriptomics, Liquid biopsy.
- Who it may be relevant to
- Registry conditions: Congenital Melanocytic Nevi, Melanoma, Skin, Nevi and Melanomas. Basic parameters: No limits · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- France, Spain
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Official title
Understanding the Transition from Normal Melanocytes to Nevus to Melanoma (NevustoMel)
Overview
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
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.
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
Primary outcome measures
- Molecular identity profiles [Time frame: 26 months]
Secondary outcome measures (3)
- cfDNA profiles [Time frame: 26 months]
- Improve the early diagnosis and treatment of L/GCMN [Time frame: 26 months]
- Test pre-clinical strategies for L/GCMN [Time frame: 26 months]
Eligibility 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
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Case-control
Study locations
France · 1 center
- French National Institute of Health and Medical Research — Marseille
Spain · 1 center
- Hospital Clínic de Barcelona (Dermatology service) — Barcelona
Identifiers
NCT: NCT06605417 · HCB/2023/0843 · HORIZON-MISS-2021-CANCER-02-03