Impact of Environmental Exposures on Tumor Risk in SDHx-mutation Carriers

Launched by ASSISTANCE PUBLIQUE - HÔPITAUX DE PARIS · May 6, 2024

Keywords

ClinConnect Summary

The PGL.EXPO-2 study is looking into how certain environmental factors might affect the risk of developing tumors in people who have a specific genetic mutation called an SDH mutation. Researchers want to find out if exposure to substances that can inhibit a process called succinate dehydrogenase (SDH) might lead to more cases of a type of tumor known as paraganglioma in these individuals. The study will compare people who have been diagnosed with these tumors to those who have the same genetic mutation but do not have tumors, to see if there's a link between their exposure to these substances and the risk of developing tumors.

To participate in this study, you need to be someone who carries the SDH mutation. If you have been diagnosed with an SDH-related tumor, you would be in the "cases" group, while those without a tumor would be in the "controls" group. Participants will be asked to provide a small blood sample for testing. The study is not yet recruiting participants, and it is open to individuals aged 65 to 74. It's important to note that people who are unable to give informed consent, or are under legal guardianship, will not be eligible to participate. This research could provide valuable insights into how environmental factors may influence tumor development in those with this genetic mutation.

Gender

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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