Environmental Exposure, SDH Gene Mutation, SDH-Related Familial Paraganglioma, SDHx-Related Syndromes
Conditions
Keywords
hereditary paraganglioma, SDHx gene mutation, environmental exposure
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
Interventions
None listed
Sponsors
Assistance Publique - Hôpitaux de Paris
Institut National de la Santé Et de la Recherche Médicale, France
ANSES
Centre Leon Berard
Study design
Observational model
CASE_CONTROL
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Impact of SDHi exposure in paraganglioma occurence | 36 months | Association between exposures and tumor occurrence measure with Odd ratio |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| 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 |
Countries
France
Contacts
CONTACTAlexandre Buffet, MD, PhD
CONTACTAnne-Paule Gimenez-Roqueplo, MD, PhD
STUDY_DIRECTORAnne-Paule Gimenez-Roqueplo, MD, PhD
Hôpital européen Georges Pompidou - APHP
Outcome results
None listed