Congenital Melanocytic NeviNevustoMelNCT06605417
Understanding the Transition from Normal Melanocytes to Nevus to Melanoma
An observational study of Congenital Melanocytic Nevi and Melanoma, Skin, run by Fundacion Clinic per a la Recerca Biomédica at 2 sites in 2 countries.
Trial 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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Congenital Melanocytic Nevi, Melanoma, Skin, Nevi and Melanomas
- What is being tested?
- Methylomics, RNA sequencing and Spatial transcriptomics
- How many people
- 100 participants
- Where
- 2 sitesin 2 countries
- Study dates
- 1 Jan 2024to 30 Nov 2026
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
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.
Who may be able to join
- Congenital nevus with estimated size of 20 cm
- Be over 18 years of age
Who cannot join
- No available biological material
- Not having signed the informed consent
Trial locations and contacts
2 sites in 2 countries. Contact the study team or a site near you to ask about taking part.
Adrián López Canosa, PhD contact
2 sites in 2 countries
France1 site, 1 recruiting
- Recruiting
French National Institute of Health and Medical Research
Marseille
Heather Etchevers, PhD, +33491324937, heather.etchevers@inserm.fr
Spain1 site, 1 recruiting
- Recruiting
Hospital Clínic de Barcelona (Dermatology service)
Barcelona
Susana Puig Sardà, PhD, MD, +34932275400, spuig@clinic.cat
About this study
Official title: Understanding the Transition from Normal Melanocytes to Nevus to Melanoma (NevustoMel)
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.
Read the 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.
- Being tested
- Methylomics, RNA sequencing, Spatial transcriptomics, Liquid biopsy
- Keywords
- Congenital melanocytic nevi, Melanoma, Liquid biopsy, cfDNA, Methylomics, L/GCMN, RNAseq, Molecular profiles
- Medical subject headings
- Melanoma, Nevi and Melanomas
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
MethylomicsGenetic
Methylomics analysis of FFPE blocks and frozen tissues
RNA sequencingGenetic
RNA sequencing of FFPE blocks and frozen tissues
Spatial transcriptomicsGenetic
Spatial transcriptomics of FFPE blocks and frozen tissues
Liquid biopsyGenetic
cfDNA characterization extracted from blood/saliva
| Study group | Role | What they receive |
|---|---|---|
| L/GCMN | Patients with congenital nevus with estimated size of 20 cm or more in adulthood (> 18 years old) Receives: Genetic: Methylomics; Genetic: RNA sequencing; Genetic: Spatial transcriptomics; Genetic: Liquid biopsy | |
| Melanoma | Patients affected with Spitz-type or conventional melanomas in patients under 30 years of age Receives: Genetic: Methylomics; Genetic: RNA sequencing; Genetic: Spatial transcriptomics; Genetic: Liquid biopsy |
What is being measured
The primary outcome is the main question the study is designed to answer.
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)
Measured: 26 months
Secondary outcomes (3)
cfDNA profiles
Longitudinal characterization of the cell-free DNA (cfDNA) of CAYA patients
Measured: 26 months
Improve the early diagnosis and treatment of L/GCMN
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.
Measured: 26 months
Test pre-clinical strategies for L/GCMN
Test pre-clinical strategies to best model and improve patient response with intermediate lesions such as L/GCMN
Measured: 26 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted20 Sep 2024
- Study start1 Jan 2024
- Primary completion31 Mar 2026 (estimated)
- Study completion30 Nov 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Congenital Melanocytic NeviStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Retrospective
- Enrolment
- 100 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Fundacion Clinic per a la Recerca Biomédica
- Sponsor type
- University, hospital or other
- Collaborators
- Institut National de la Santé Et de la Recherche Médicale, France, University Hospital Tuebingen, University of Florence, Fondazione IRCCS Istituto Nazionale dei Tumori, Milano, University Of Perugia, German Cancer Research Center, Karolinska Institutet, Maria Sklodowska-Curie National Research Institute of Oncology, Institut Curie, Medical University of Gdansk, Princess Maxima Center for Pediatric Oncology, Institut Català d'Oncologia
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06605417
- Sponsor's protocol ID
- HCB/2023/0843
- Other IDs
- HORIZON-MISS-2021-CANCER-02-03
- Acronym
- NevustoMel
- Status last verified
- Sep 2024
- First submitted
- 18 Sep 2024
- Last updated
- 27 Feb 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 27 Feb 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Understanding the Transition from Normal Melanocytes to Nevus to Melanoma (NevustoMel)
- ClinicalTrials.gov ID
- NCT06605417
- Acronym / sponsor ID
- NevustoMel / HCB/2023/0843
- Keywords
- Congenital melanocytic nevi, Melanoma, Liquid biopsy, cfDNA, Methylomics, L/GCMN, RNAseq, Molecular profiles
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 100 participants (estimated)
- Lead sponsor
- Fundacion Clinic per a la Recerca BiomédicaUniversity, hospital or other
- Collaborators
- Institut National de la Santé Et de la Recherche Médicale, France, University Hospital Tuebingen, University of Florence, Fondazione IRCCS Istituto Nazionale dei Tumori, Milano, University Of Perugia, German Cancer Research Center, Karolinska Institutet, Maria Sklodowska-Curie National Research Institute of Oncology, Institut Curie, Medical University of Gdansk, Princess Maxima Center for Pediatric Oncology, Institut Català d'Oncologia
- Study start
- 1 Jan 2024 (actual)
- Primary completion
- 31 Mar 2026 (estimated)
- Study completion
- 30 Nov 2026 (estimated)
- First posted
- 20 Sep 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Case-control
- Time perspective
- Retrospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| L/GCMN | – | Genetic: Methylomics, Genetic: RNA sequencing, Genetic: Spatial transcriptomics, Genetic: Liquid biopsyPatients with congenital nevus with estimated size of 20 cm or more in adulthood (> 18 years old) |
| Melanoma | – | Genetic: Methylomics, Genetic: RNA sequencing, Genetic: Spatial transcriptomics, Genetic: Liquid biopsyPatients affected with Spitz-type or conventional melanomas in patients under 30 years of age |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- 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.
Key inclusion criteria (2 listed)
- Congenital nevus with estimated size of 20 cm
- Be over 18 years of age
Key exclusion criteria (2 listed)
- No available biological material
- Not having signed the informed consent
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| MethylomicsMethylomics analysis of FFPE blocks and frozen tissues | Genetic | L/GCMN, Melanoma |
| RNA sequencingRNA sequencing of FFPE blocks and frozen tissues | Genetic | L/GCMN, Melanoma |
| Spatial transcriptomicsSpatial transcriptomics of FFPE blocks and frozen tissues | Genetic | L/GCMN, Melanoma |
| Liquid biopsycfDNA characterization extracted from blood/saliva | Genetic | L/GCMN, Melanoma |
Primary outcome
Molecular identity profiles
Time frame: 26 months
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)
3 secondary outcomes
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
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 27 Feb 2025.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Adrián López Canosa, PhD contact
2 sites in 2 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Congenital Melanocytic Nevi and Melanoma, Skin, run by Fundacion Clinic per a la Recerca Biomédica at 2 sites in 2 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 27 Feb 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in France, Spain. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Susana Puig Sardà, MD, PhD (+34932275400, spuig@clinic.cat), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Molecular identity profiles (time frame: 26 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 27 Feb 2025.