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

NCT06680323 | Recruiting

• 1 other identifier: 834/2023BO2
• Study Type: observational
• Target: 200
• Locations: 5 countries
• Sites: 6

Brief Summary

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.

Conditions

Melanoma; Spitzoid Melanoma; Congenital Nevi

Keywords

etiology; melanoma; children; adolescents; young adults; genetic predisposition; epidemiology; exposomes

Outcome Measures

Primary Outcomes (1)

• Identification of environmental and genetic factors involved in the risk and progression of melanoma in children, adolescents and young adults (CAYA)

  By retrieving data from several epidemiological and clinical registries across Europe we aim to create a large dataset that serves for a comprehensive analysis of genetic and environmental factors influencing the etiology of melanoma in CAYA. Data on climate variables such as surface temperature, solar radiation, and air pollutants will be collected from ground-based instruments, such as air quality monitoring stations, and satellites and reanalysis data from the Copernicus Atmosphere Monitoring Service (CAMS). Data analysis from genome sequencing will be done using established bioinformatic pipelines and combined with exposome information about climate and pollution for the development of a weighted risk score.

  01.01.2024 - 30.11.2025

Secondary Outcomes (2)

• Generating a polygenic risk score for melanoma in CAYA by using the Lindeman-Merenda-Gold (LMG) method

  01.06.2024 - 31.05.2026

• Prevention strategies for melanoma development in CAYA

  01.06.2025 - 30.09.2026

Study Arms (3)

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.

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.

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.

Eligibility Criteria

• Age: Up to 30 Years
• Sex: all
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

Due to its registry-based retrospective study, no formal recruitment of patients will occur in ExpoMel. Data and samples will be obtained from the following registries and associated biobanks: * Catalonia Melanoma Network through Hospital Clinic Barcelona * The German Registry for Rare Pediatric Tumours (STEP) of the German Society for Pediatric Oncology and Hematology * Swedish Melanoma Registry (SweMR) through Karolinska Institute * Public Pathology Database of the Netherlands (PALGA) through Princess Maxima Center for Children OncologyCentral Registry Malignant Melanoma of the German Dermatological Society (CMMR) * Polish Pediatric Rare Tumor Study group and selected Eastern/Southern Europe countries cooperating within the European Cooperative Study Group for Pediatric Rare Tumors (EXPERT) through the Medical University Gdansk

You may qualify if:

• confirmed melanoma
• age until 30 years old

You may not qualify if:

• no available biological material
• no signed informed consent

Sponsors & Collaborators

• University Hospital Tuebingen: lead
• Hospital Clinic of Barcelona: collaborator
• University Of Perugia: collaborator
• Fondazione IRCCS Istituto Nazionale dei Tumori, Milano: collaborator
• Karolinska University Hospital: collaborator
• Leibniz Research Institute for Environmental Medicine Düsseldorf: collaborator
• Princess Maxima Center for Pediatric Oncology: collaborator
• Medical University of Gdansk: collaborator

Study Sites (6)

Leibniz Research Institute for Environmental Medicine

Düsseldorf, 40225, Germany

ACTIVE NOT RECRUITING

University of Florence

Florence, 50121, Italy

ACTIVE NOT RECRUITING

Istituto Nazionale del Tumori

Milan, 20133, Italy

ACTIVE NOT RECRUITING

Medical University of Gdánsk

Gdansk, 80-210, Poland

RECRUITING

Hospital Clínic de Barcelona

Barcelona, 08036, Spain

RECRUITING

Karolinska Institute

Solna, 17177, Sweden

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

tissue samples of melanoma and normal tissue, blood

MeSH Terms

Conditions

Melanoma; Genetic Predisposition to Disease

Condition Hierarchy (Ancestors)

Neuroendocrine Tumors; Neuroectodermal Tumors; Neoplasms, Germ Cell and Embryonal; Neoplasms by Histologic Type; Neoplasms; Neoplasms, Nerve Tissue; Nevi and Melanomas; Skin Neoplasms; Neoplasms by Site; Skin Diseases; Skin and Connective Tissue Diseases; Disease Susceptibility; Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Central Study Contacts

Ines B Brecht, MD, PhD

CONTACT

+49707183773; ines.brecht@med.uni-tuebingen.de

Christopher Schroeder, MD

CONTACT

christopher.schroeder@med.uni-tuebingen.de

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: September 25, 2024
• First Posted: November 8, 2024
• Study Start: January 1, 2024
• Primary Completion: May 31, 2025
• Study Completion (Estimated): May 31, 2026
• Last Updated: November 8, 2024

Record last verified: 2024-09

Locations

DE (1); ES (1); IT (2); SE (1); PL (1)