Impact of Environmental Exposures on Tumor Risk in Subjects at Risk of Hereditary SDHx Paraganglioma (PGL-EXPO-1)

Assistance Publique - Hôpitaux de Paris

Status: Unknown

Conditions: Environmental Exposure; Genetic Predisposition; SDH Gene Mutation

Study type: Observational

Funder types: Other

Identifiers

NCT04481152

APHP191007

2020-A00567-32 (Other Identifier)

Details and patient eligibility

About

The main objective of the pilot phase of PGLEXPO will be to assess the faisability and to precise methodology of a case-control study designed for testing the impact of environmental and professional exposures on the tumoral risk in SDHx-mutation carriers

Full description

The main objective of the pilot phase of PGLEXPO will be to assess the faisability and to precise methodology of a case-control study designed for testing the impact of environmental and professional exposures on the tumoral risk in SDHx-mutation carriers.

Patients will be selected from subjects with a mutation in one of the SDHx genes. The cases will have developed a tumor, while the controls will be tumor-free. Controls will be matched to the cases according to sex, age and type of gene affected. Past exposures will be sought through a telephone questionnaire.

Enrollment: 100 estimated patients

Sex: All

Ages: 18+ years old

Volunteers: No Healthy Volunteers

Inclusion criteria

1. Cases: SDHx mutation carriers diagnosed for a SDHx-related tumor
2. Controls: SDHx mutation carriers with no SDHx-related tumor

Exclusion criteria

Incapacity to exercise free and informed consent for the study