Identification of Risk Factors, Exposomics and Genetic Susceptibility of Melanoma in Children, Adolescents and Young Adults

NCT ID: NCT06680323

Last Updated: 2024-11-08

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

200 participants

Study Classification

OBSERVATIONAL

Study Start Date

2024-01-01

Study Completion Date

2026-05-31

Brief Summary

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The primary objective of this study is the identification of environmental and genetic factors involved in the risk and progression of melanoma in children, adolescents and young adults (CAYA). The secondary objectives are to generate a model integrating the genetic and environmental factors to estimate the risk of developing melanoma and improve the primary prevention of melanoma through evidence-based interpretation of environmental risk.

Detailed Description

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By retrieving data from several epidemiological and clinical registries across Europe it is aimed to integrate and maximize efforts in order to create a large dataset that serves for a comprehensive analysis of genetic and environmental factors influencing the etiology of melanoma in CAYA. The data will be combined with exposome information about climate and pollution for the development of a weighted risk score. Furthermore, germline high risk mutations and germline low-medium risk variants will be analyzed. Genome and transcriptome sequencing of blood and in selected cases tumour will provide the most comprehensive data to create a polygenic risk score for CAYA melanoma. Transcriptome data will help to identify and characterize the effect of variants of unknown significance in coding, intronic as well as regulatory regions. Tumour sequencing can provide additional information on functional relevance of variants, e.g. secondary hits in tumour tissue or second hits in tumour suppressor genes. Such identification will be highly advantageous to design prevention strategies for melanoma development in CAYA.

Conditions

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Melanoma Spitzoid Melanoma Congenital Nevi

Study Design

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Observational Model Type

COHORT

Study Time Perspective

RETROSPECTIVE

Study Groups

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Classic melanoma

Classic malignant melanoma under the age of 30 years For patients with available biospecimen, the germline genome, transcriptome and in selected cases tumour normal exomes will be sequenced.

No interventions assigned to this group

Spitzoid melanoma

Spitzoid melanoma under the age of 30 years For patients with available biospecimen, the germline genome, transcriptome and in selected cases tumour normal exomes will be sequenced.

No interventions assigned to this group

Other melanoma

Other melanoma as melanoma on congenital nevi under the age of 30 years For patients with available biospecimen, the germline genome, transcriptome and in selected cases tumour normal exomes will be sequenced.

No interventions assigned to this group

Eligibility Criteria

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Inclusion Criteria

* confirmed melanoma
* age until 30 years old

Exclusion Criteria

* no available biological material
* no signed informed consent
Maximum Eligible Age

30 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Hospital Clinic of Barcelona

OTHER

Sponsor Role collaborator

University Of Perugia

OTHER

Sponsor Role collaborator

Fondazione IRCCS Istituto Nazionale dei Tumori, Milano

OTHER

Sponsor Role collaborator

Karolinska University Hospital

OTHER

Sponsor Role collaborator

Leibniz Research Institute for Environmental Medicine Düsseldorf

UNKNOWN

Sponsor Role collaborator

Princess Maxima Center for Pediatric Oncology

OTHER

Sponsor Role collaborator

Medical University of Gdansk

OTHER

Sponsor Role collaborator

University Hospital Tuebingen

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Locations

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Leibniz Research Institute for Environmental Medicine

Düsseldorf, , Germany

Site Status ACTIVE_NOT_RECRUITING

University of Florence

Florence, , Italy

Site Status ACTIVE_NOT_RECRUITING

Istituto Nazionale del Tumori

Milan, , Italy

Site Status ACTIVE_NOT_RECRUITING

Medical University of Gdánsk

Gdansk, , Poland

Site Status RECRUITING

Hospital Clínic de Barcelona

Barcelona, , Spain

Site Status RECRUITING

Karolinska Institute

Solna, , Sweden

Site Status RECRUITING

Countries

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Germany Italy Poland Spain Sweden

Central Contacts

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Ines B Brecht, MD, PhD

Role: CONTACT

+49707183773

Christopher Schroeder, MD

Role: CONTACT

Facility Contacts

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Ewa Bien, MD, PhD

Role: primary

Susana Puig Sardá, MD, PhD

Role: primary

Hildur Helgadottir, MD

Role: primary

Other Identifiers

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834/2023BO2

Identifier Type: -

Identifier Source: org_study_id

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