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

Not yet recruiting

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

• Registration Number: NCT06408402
• Lead Sponsor: Assistance Publique - Hôpitaux de Paris

Brief 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

Study Timeline

• Study First Submitted: 2024-03-27
• Status Verified: 2024-04
• Study Start: 2024-05-01
• Study First Submitted QC: 2024-05-06
• Last Update Submitted: 2024-05-06
• Study First Posted: 2024-05-10
• Last Update Posted: 2024-05-10
• Primary Completion: 2028-05-01
• Study Completion: 2028-05-01

Recruitment & Eligibility

• Status: NOT_YET_RECRUITING
• Sex: All
• Target Recruitment: 1300

Inclusion Criteria

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

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Exclusion Criteria

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

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Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Impact of SDHi exposure in paraganglioma occurence	36 months	Association between exposures and tumor occurrence measure with Odd ratio

Secondary Outcome Measures

Name	Time	Method
Spatial distribution of cases	48 months	Spatial distribution of tumor incidence
Incidence rate in France of pathologies linked to SDHx gene mutations	48 months	Incidence rate in France of pathologies linked to SDHx gene mutations

Trial Locations

Locations (19)

CHU d'Angers; 🇫🇷 Angers, France

CHU Jean Minjoz Besançon; 🇫🇷 Besançon, France

Hopital de la Conception - Marseille; 🇫🇷 Marseille, France

Hôpital Louis Pradel; 🇫🇷 Bron, France

CHU de Nantes; 🇫🇷 Nantes, France

CHU de Rennes - Hôpital Sud; 🇫🇷 Rennes, France

CHU de Caen; 🇫🇷 Caen, France

Hôpital Michalon - CHU Grenoble; 🇫🇷 Grenoble, France

CHU de Montpellier - Hôpital Lapeyronie; 🇫🇷 Montpellier, France

CHU de Lille - Hôpital HURIEZ; 🇫🇷 Lille, France

CHU de Nice -Hôpital Archet 2; 🇫🇷 Nice, France

Institut Gustave Roussy; 🇫🇷 Villejuif, France

CHU de Poitiers; 🇫🇷 Poitiers, France

Hôpitaux universitaire de Strasbourg - Hôpital de Hautepierre; 🇫🇷 Strasbourg, France

Hôpital Pitié-Salpêtrière - APHP; 🇫🇷 Paris, France

Hôpital Cochin - APHP; 🇫🇷 Paris, France

Hôpital européen Georges Pompidou - APHP; 🇫🇷 Paris, France

CHU Bretonneau; 🇫🇷 Tours, France

CHU de Toulouse - Hôpita Larrey; 🇫🇷 Toulouse, France