Clinical trial NCT06605417: Understanding the Transition from Normal Melanocytes to Nevus to Melanoma
Official title: Understanding the Transition from Normal Melanocytes to Nevus to Melanoma (NevustoMel)
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Congenital Melanocytic Nevi
Melanoma, Skin
Nevi and Melanomas
Keywords: Congenital melanocytic nevi
Melanoma
Liquid biopsy
cfDNA
Methylomics
L/GCMN
RNAseq
Molecular profiles
Lead sponsor: Fundacion Clinic per a la Recerca Biomédica
Sponsor class: OTHER
Collaborators: name: Institut National de la SantÃ© Et de la Recherche MÃ©dicale, France
name: University Hospital Tuebingen
name: University of Florence
name: Fondazione IRCCS Istituto Nazionale dei Tumori, Milano
name: University Of Perugia
name: German Cancer Research Center
name: Karolinska Institutet
name: Maria Sklodowska-Curie National Research Institute of Oncology
name: Institut Curie
name: Medical University of Gdansk
name: Princess Maxima Center for Pediatric Oncology
name: Institut Català d'Oncologia
First posted: 2024-09-20
Enrollment: 100
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: CASE_CONTROL
Time perspective: RETROSPECTIVE
Sampling method: NON_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.

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.

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.

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

Primary outcomes:
measure: Molecular identity profiles
timeFrame: 26 months
Secondary outcomes:
measure: cfDNA profiles
timeFrame: 26 months
measure: Improve the early diagnosis and treatment of L/GCMN
timeFrame: 26 months
measure: Test pre-clinical strategies for L/GCMN
timeFrame: 26 months
Other outcomes:
Locations:
city: Marseille
country: France
facility: French National Institute of Health and Medical Research
city: Barcelona
country: Spain
facility: Hospital Clínic de Barcelona (Dermatology service)
Study officials:
References: