Clinical trial NCT06680323: Identification of Risk Factors, Exposomics and Genetic Susceptibility of Melanoma in Children, Adolescents and Young Adults
Official title: Identification of Risk Factors, Exposomics and Genetic Susceptibility of Melanoma in Children, Adolescents and Young Adults - Novel Health Care Strategies for Melanoma in Children, Adolescents and Young Adults (MELCAYA)
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Melanoma
Spitzoid Melanoma
Congenital Nevi
Keywords: etiology
melanoma
children
adolescents
young adults
genetic predisposition
epidemiology
exposomes
Lead sponsor: University Hospital Tuebingen
Sponsor class: OTHER
Collaborators: name: Hospital Clinic of Barcelona
name: University Of Perugia
name: Fondazione IRCCS Istituto Nazionale dei Tumori, Milano
name: Karolinska University Hospital
name: Leibniz Research Institute for Environmental Medicine Düsseldorf
name: Princess Maxima Center for Pediatric Oncology
name: Medical University of Gdansk
First posted: 2024-11-08
Enrollment: 200
Sex: ALL
Maximum age (years): 30
Standard ages: CHILD
ADULT
Observational model: COHORT
Time perspective: RETROSPECTIVE
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

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.

Detailed description: 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.

Eligibility criteria: Inclusion Criteria:

* confirmed melanoma
* age until 30 years old

Exclusion Criteria:

* no available biological material
* no signed informed consent

Primary outcomes:
measure: Identification of environmental and genetic factors involved in the risk and progression of melanoma in children, adolescents and young adults (CAYA)
timeFrame: 01.01.2024 - 30.11.2025
Secondary outcomes:
measure: Generating a polygenic risk score for melanoma in CAYA by using the Lindeman-Merenda-Gold (LMG) method
timeFrame: 01.06.2024 - 31.05.2026
measure: Prevention strategies for melanoma development in CAYA
timeFrame: 01.06.2025 - 30.09.2026
Other outcomes:
Locations:
city: Düsseldorf
country: Germany
facility: Leibniz Research Institute for Environmental Medicine
city: Florence
country: Italy
facility: University of Florence
city: Milan
country: Italy
facility: Istituto Nazionale del Tumori
city: Gdańsk
country: Poland
facility: Medical University of Gdánsk
city: Barcelona
country: Spain
facility: Hospital Clínic de Barcelona
city: Solna
country: Sweden
facility: Karolinska Institute
Study officials:
References: