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CompletedNCT04481152PGL-EXPO-1Updated Jul 8, 2026

Impact of Environmental Exposures on Tumor Risk in Subjects at Risk of Hereditary SDHx Paraganglioma

An observational study in Genetic Predisposition, SDH Gene Mutation and Environmental Exposure, sponsored by Assistance Publique - Hôpitaux de Paris. Completed at 1 site in France. Open to participants aged 18 Years and older. Per ClinicalTrials.gov, last updated 2026-07-08.

Sponsored by Assistance Publique - Hôpitaux de Paris · Observational

Study type
Observational
Model
Case-control
Time perspective
Cross-sectional
Enrollment
101
Ages
18 Years and older
Sex
All
01

Study summary

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

Read the detailed description

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.

02

Conditions studied

  • Genetic Predisposition
  • SDH Gene Mutation
  • Environmental Exposure
03

In context

Genetic Predisposition to Disease

235 studies on the registry are indexed under Genetic Predisposition to Disease; 94 are open to participants now.

This study's enrollment of 101 is below the median of 400 across 154 observational studies indexed under Genetic Predisposition to Disease.

Browse Genetic Predisposition to Disease studies →

Lead sponsor

Assistance Publique - Hôpitaux de Paris is the lead sponsor of 3,505 studies on the registry; 1,006 are open to participants now.

Counted across the registry records on this site, refreshed daily.

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Who can participate

Ages eligible
18 Years and older
Sexes eligible
All
Accepts healthy volunteers
No
Sampling method
Non-probability sample

Study population

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

Inclusion criteria

  1. Cases: SDHx mutation carriers diagnosed for a SDHx-related tumor
  2. Controls: SDHx mutation carriers with no SDHx-related tumor

Exclusion criteria

Exclusion Criteria:

Incapacity to exercise free and informed consent for the study

05

Study design

Observational model
Case-control
Time perspective
Cross-sectional
Enrollment
101 participants (actual)
Patient registry
No
06

What researchers measure

Primary outcomes

  1. Feasability of the protocol of a national case/control study (PGL.EXPO2)

    Successful pairing of 50 cases with 50 controls

    Time frame: 2 years

Secondary outcomes

  1. Feasibility of matching cases and controls

    Proportion of cases for which a control could be identified

    Time frame: 2 years

  2. Ease of matching cases and controls

    Mean number of controls matching for a case

    Time frame: 2 years

07

Study locations

1 site
  • Hôpital européen Georges-Pompidou
    Paris, 75015, France
08

References and documents

Individual participant data

Plan to share: Yes — Individual participant data (IPD) that underlie results in publication could be shared.

Supporting information: Study protocol

No publications or documents are linked to this record.

09

Updates

Tracking since Sep 25, 2026
No changes since tracking began. The registry record was last updated on Jul 8, 2026, before this site started recording changes on Sep 25, 2026. Its history is on ClinicalTrials.gov ↗
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Registry details

Key details

Study ID
NCT04481152
Lead sponsor
Assistance Publique - Hôpitaux de Paris
Collaborators
Institut National de la Santé Et de la Recherche Médicale, France, ANSES
Responsible party
Sponsor
First posted
Jul 22, 2020
Start date
Mar 3, 2022
Primary completion
Jul 22, 2022
Completion
Jul 22, 2022
Last update
Jul 8, 2026

Study contacts

Anne-Paule GIMENEZ-ROQUEPLO, MD, PhD
principal investigator · Assistance Publique - Hôpitaux de Paris

Oversight

Data monitoring committee
No
FDA-regulated drug
No
FDA-regulated device
No
View the source record on ClinicalTrials.gov ↗

Not currently enrolling

This study is completed, as verified in Jul 2026. You cannot join it, but the record below documents what was studied.

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