Impact of Environmental Exposures on Tumor Risk in SDHx-mutation Carriers (PGLEXPO2)

Assistance Publique - Hôpitaux de Paris

Status: Not yet enrolling

Conditions: SDH-Related Familial Paraganglioma; Environmental Exposure; SDHx-Related Syndromes; SDH Gene Mutation

Study type: Observational

Funder types: Other

Identifiers

NCT06408402

APHP230878

2023-A02297-38 (Other Identifier)

HGT/MFI/AR245071 (Other Identifier)

Details and patient eligibility

About

The primary objective of the PGL.EXPO-2 study is to test the hypothesis that exposure (occupational, environmental and/or domestic) to succinate dehydrogenase inhibitors (SDHi) could contribute to tumor emergence in subjects carrying a germline mutation in one of the SDHx genes.The primary endpoint will be the proportion of subjects (cases or controls) exposed to SDHi and the association with paraganglioma risk.

In addition, a blood sample (10 ml on EDTA) will be proposed to the participants to the study

Full description

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 age and type of gene affected. Past exposures will be sought through a telephone questionnaire.

In addition, a blood sample (10 ml on EDTA) will be proposed to the participants to the study

Enrollment: 1,300 estimated patients

Sex: All

Ages: 18+ years old

Volunteers: No Healthy Volunteers

Inclusion criteria

• Cases: SDHx mutation carriers diagnosed for a SDHx-related tumor
• Controls: SDHx mutation carriers with no SDHx-related tumor

Exclusion criteria

• Incapacity to exercise free and informed consent for the study
• Patient under tutorship or guardianship or legal safeguard

Trial design

1,300 participants in 2 patient groups

Cases

Description:

Cases: SDHx mutation carriers diagnosed for a SDHx-related tumor

Controls

Description:

Controls : SDHx mutation carriers with no SDHx-related tumor