Impact of Environmental Exposures on Tumor Risk in Subjects at Risk of Hereditary SDHx Paraganglioma

• Conditions: Genetic Predisposition; Environmental Exposure; SDH Gene Mutation

• Registration Number: NCT04481152
• Lead Sponsor: Assistance Publique - Hôpitaux de Paris

Brief Summary

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

Detailed 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.

Study Timeline

• Study First Submitted: 2020-07-17
• Study First Submitted QC: 2020-07-17
• Study First Posted: 2020-07-22
• Status Verified: 2022-01
• Last Update Submitted: 2022-01-17
• Last Update Posted: 2022-01-19
• Study Start: 2022-03-01
• Primary Completion: 2022-09-01
• Study Completion: 2022-09-01

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: All
• Target Recruitment: 100

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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Feasability of the protocol of a national case/control study (PGL.EXPO2)	2 years	Successful pairing of 50 cases with 50 controls

Secondary Outcome Measures

Name	Time	Method
Ease of matching cases and controls	2 years	Mean number of controls matching for a case
Feasibility of matching cases and controls	2 years	Proportion of cases for which a control could be identified