Environmental Exposure, Genetic Predisposition, SDH Gene Mutation
Conditions
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.
Interventions
None listed
Sponsors
Assistance Publique - Hôpitaux de Paris
Institut National de la Santé Et de la Recherche Médicale, France
ANSES
Study design
Observational model
CASE_CONTROL
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Feasability of the protocol of a national case/control study (PGL.EXPO2) | 2 years | Successful pairing of 50 cases with 50 controls |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Feasibility of matching cases and controls | 2 years | Proportion of cases for which a control could be identified |
| Ease of matching cases and controls | 2 years | Mean number of controls matching for a case |
Countries
France
Contacts
PRINCIPAL_INVESTIGATORAnne-Paule GIMENEZ-ROQUEPLO, MD, PhD
Assistance Publique - Hôpitaux de Paris
Outcome results
None listed