Impact of Environmental Exposures on Tumor Risk in SDHx-mutation Carriers
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: SDH-Related Familial Paraganglioma, SDHx-Related Syndromes, SDH Gene Mutation, Environmental Exposure. Basic parameters: from 18 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- France
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Official title
Impact of Environmental Exposures on Tumor Risk in Subjects at Risk of Hereditary SDHx-related Paragangliomas - National Study
Overview
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
Primary outcome measures
- Impact of SDHi exposure in paraganglioma occurence [Time frame: 36 months]
Secondary outcome measures (2)
- Spatial distribution of cases [Time frame: 48 months]
- Incidence rate in France of pathologies linked to SDHx gene mutations [Time frame: 48 months]
Eligibility criteria
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
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Case-control
Study locations
France · 20 centers
- CHU d'Angers — Angers
- CHU Jean Minjoz Besançon — Besançon
- Hôpital Louis Pradel — Bron
- CHU de Caen — Caen
- Hôpital Michalon - CHU Grenoble — Grenoble
- CHU de Lille - Hôpital HURIEZ — Lille
- Hopital de la Conception - Marseille — Marseille
- CHU de Montpellier - Hôpital Lapeyronie — Montpellier
- … and 12 more centers
Identifiers
NCT: NCT06408402 · APHP230878 · HGT/MFI/AR245071 · 2023-A02297-38