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)
Overview
- Phase
- Not Applicable
- Intervention
- Not specified
- Conditions
- Melanoma
- Sponsor
- University Hospital Tuebingen
- Enrollment
- 200
- Locations
- 6
- Primary Endpoint
- Identification of environmental and genetic factors involved in the risk and progression of melanoma in children, adolescents and young adults (CAYA)
- Status
- Recruiting
- Last Updated
- last year
Overview
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.
Investigators
Eligibility Criteria
Inclusion Criteria
- •confirmed melanoma
- •age until 30 years old
Exclusion Criteria
- •no available biological material
- •no signed informed consent
Outcomes
Primary Outcomes
Identification of environmental and genetic factors involved in the risk and progression of melanoma in children, adolescents and young adults (CAYA)
Time Frame: 01.01.2024 - 30.11.2025
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.
Secondary Outcomes
- 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)