NCT06408402

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

Impact of Environmental Exposures on Tumor Risk in Subjects at Risk of Hereditary SDHx-related Paragangliomas - National Study

• Status: Not Yet Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 1,300 (estimated)
• Sponsor: Assistance Publique - Hôpitaux de Paris · Academic / Other
• Sex: All
• Age: 18 Years
• Healthy volunteers: Not accepted

Summary

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

Detailed 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

Conditions

• SDH-Related Familial Paraganglioma
• SDHx-Related Syndromes
• SDH Gene Mutation
• Environmental Exposure

Timeline

• Start date: 2024-05-01
• Primary completion: 2028-05-01
• Completion: 2028-05-01
• First posted: 2024-05-10
• Last updated: 2024-05-10

Locations

20 sites across 1 country: France