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| ID | Type | Description | Link |
|---|---|---|---|
| 2020-A00567-32 | Other Identifier | ANSM |
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| Name | Class |
|---|---|
| Institut National de la Santé Et de la Recherche Médicale, France | OTHER_GOV |
| ANSES | OTHER |
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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
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.
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| Measure | Description | Time Frame |
|---|---|---|
| Feasability of the protocol of a national case/control study (PGL.EXPO2) | Successful pairing of 50 cases with 50 controls | 2 years |
| Measure | Description | Time Frame |
|---|---|---|
| Feasibility of matching cases and controls | Proportion of cases for which a control could be identified | 2 years |
| Ease of matching cases and controls | Mean number of controls matching for a case |
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Inclusion Criteria:
Exclusion Criteria:
Incapacity to exercise free and informed consent for the study
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50 cases and 50 controls will be enrolled in a single referral center where they are regurlarly managed and followed for a SDHx-related tumor risk. They will be matched on their date of birth
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| Name | Affiliation | Role |
|---|---|---|
| Anne-Paule GIMENEZ-ROQUEPLO, MD, PhD | Assistance Publique - Hôpitaux de Paris | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Hôpital européen Georges-Pompidou | Paris | 75015 | France |
Individual participant data (IPD) that underlie results in publication could be shared.
One year after the last publication
Data sharing must be accepted by the sponsor and the PI based on scientific project and scientific involvement of the PI team. The founder could be involved in the decision.
Teams wishing obtain IPD must meet the sponsor and IP team to present scientifics (and commercial) purpose, IPD needed, format of data transmission, and timeframe. Technical feasibility and financial support will be discussed before mandatory contractualization.
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| ID | Term |
|---|---|
| D020022 | Genetic Predisposition to Disease |
| ID | Term |
|---|---|
| D004198 | Disease Susceptibility |
| D020969 | Disease Attributes |
| D010335 | Pathologic Processes |
| D013568 | Pathological Conditions, Signs and Symptoms |
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| 2 years |