Clinical trial NCT06408402: Impact of Environmental Exposures on Tumor Risk in SDHx-mutation Carriers
Official title: Impact of Environmental Exposures on Tumor Risk in Subjects at Risk of Hereditary SDHx-related Paragangliomas - National Study
Study type: OBSERVATIONAL
Overall status: NOT_YET_RECRUITING
Conditions: SDH-Related Familial Paraganglioma
SDHx-Related Syndromes
SDH Gene Mutation
Environmental Exposure
Keywords: hereditary paraganglioma
SDHx gene mutation
environmental exposure
Lead sponsor: Assistance Publique - Hôpitaux de Paris
Sponsor class: OTHER
Collaborators: name: Institut National de la Santé Et de la Recherche Médicale, France
name: ANSES
name: Centre Leon Berard
First posted: 2024-05-10
Enrollment: 1300
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: CASE_CONTROL
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: 650 cases and 650 controls will be enrolled in different French referral centers where they are regularly managed and followed for a SDHx-related tumor risk. They will be matched on their date of birth

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

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

Primary outcomes:
measure: Impact of SDHi exposure in paraganglioma occurence
timeFrame: 36 months
Secondary outcomes:
measure: Spatial distribution of cases
timeFrame: 48 months
measure: Incidence rate in France of pathologies linked to SDHx gene mutations
timeFrame: 48 months
Other outcomes:
Locations:
city: Angers
country: France
facility: CHU d'Angers
city: Besançon
country: France
facility: CHU Jean Minjoz Besançon
city: Bron
country: France
facility: Hôpital Louis Pradel
city: Caen
country: France
facility: CHU de Caen
city: Grenoble
country: France
facility: Hôpital Michalon - CHU Grenoble
city: Lille
country: France
facility: CHU de Lille - Hôpital HURIEZ
city: Marseille
country: France
facility: Hopital de la Conception - Marseille
city: Montpellier
country: France
facility: CHU de Montpellier - Hôpital Lapeyronie
city: Nantes
country: France
facility: CHU de Nantes
city: Nice
country: France
facility: CHU de Nice -Hôpital Archet 2
city: Paris
country: France
facility: Hôpital Pitié-Salpêtrière - APHP
city: Paris
country: France
facility: Hôpital Cochin - APHP
city: Paris
country: France
facility: Hôpital européen Georges Pompidou - APHP
city: Paris
country: France
facility: Hôpital européen Georges Pompidou - APHP
city: Poitiers
country: France
facility: CHU de Poitiers
city: Rennes
country: France
facility: CHU de Rennes - Hôpital Sud
city: Strasbourg
country: France
facility: Hôpitaux universitaire de Strasbourg - Hôpital de Hautepierre
city: Toulouse
country: France
facility: CHU de Toulouse - Hôpita Larrey
city: Tours
country: France
facility: CHU Bretonneau
city: Villejuif
country: France
facility: Institut Gustave Roussy
Study officials:
affiliation: Hôpital européen Georges Pompidou - APHP
name: Anne-Paule Gimenez-Roqueplo, MD, PhD
role: STUDY_DIRECTOR
References: