Genetic PredispositionPGL-EXPO-1NCT04481152
Impact of Environmental Exposures on Tumor Risk in Subjects at Risk of Hereditary SDHx Paraganglioma
An observational study of Genetic Predisposition and SDH Gene Mutation, run by Assistance Publique - Hôpitaux de Paris at 1 site in France.
Trial 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 more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Genetic Predisposition, SDH Gene Mutation, Environmental Exposure
- How many people
- 101 participants
- Where
- 1 siteFrance
- Study dates
- 3 Mar 2022to 22 Jul 2022
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
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
Who may be able to join
- Cases: SDHx mutation carriers diagnosed for a SDHx-related tumor
- Controls: SDHx mutation carriers with no SDHx-related tumor
Who cannot join
- Incapacity to exercise free and informed consent for the study
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Impact of Environmental Exposures on Tumor Risk in Subjects at Risk of Hereditary SDHx-related Paragangliomas, Pilot Phase
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.
- Medical subject headings
- Genetic Predisposition to Disease
What is being measured
The primary outcome is the main question the study is designed to answer.
Feasability of the protocol of a national case/control study (PGL.EXPO2)
Successful pairing of 50 cases with 50 controls
Measured: 2 years
Secondary outcomes (2)
Feasibility of matching cases and controls
Proportion of cases for which a control could be identified
Measured: 2 years
Ease of matching cases and controls
Mean number of controls matching for a case
Measured: 2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted22 Jul 2020
- Study start3 Mar 2022
- Primary completion22 Jul 2022
- Study completion22 Jul 2022
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Genetic PredispositionStudies of the same condition, open and under way.
- More trials run by Assistance Publique - Hôpitaux de ParisThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Cross-sectional
- Enrolment
- 101 participants (actual)
Sponsor and investigators
- Lead sponsor
- Assistance Publique - Hôpitaux de Paris
- Sponsor type
- University, hospital or other
- Collaborators
- Institut National de la Santé Et de la Recherche Médicale, France, ANSES
- Responsible party
- Sponsor
- Investigators
- Anne-Paule GIMENEZ-ROQUEPLO, MD, PhD, Principal investigator, Assistance Publique - Hôpitaux de Paris
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04481152
- Sponsor's protocol ID
- APHP191007
- Other IDs
- 2020-A00567-32
- Acronym
- PGL-EXPO-1
- Status last verified
- Jul 2026
- First submitted
- 17 Jul 2020
- Last updated
- 8 Jul 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: Individual participant data (IPD) that underlie results in publication could be shared.
Study at a glance
From the registry record, last updated by the sponsor on 8 Jul 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Impact of Environmental Exposures on Tumor Risk in Subjects at Risk of Hereditary SDHx-related Paragangliomas, Pilot Phase
- ClinicalTrials.gov ID
- NCT04481152
- Acronym / sponsor ID
- PGL-EXPO-1 / APHP191007
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 101 participants (actual)
- Lead sponsor
- Assistance Publique - Hôpitaux de ParisUniversity, hospital or other
- Collaborators
- Institut National de la Santé Et de la Recherche Médicale, France, ANSES
- Study start
- 3 Mar 2022 (actual)
- Primary completion
- 22 Jul 2022 (actual)
- Study completion
- 22 Jul 2022 (actual)
- First posted
- 22 Jul 2020 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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
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.
Study design
- Observational model
- Case-control
- Time perspective
- Cross-sectional
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- 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
Key inclusion criteria (2 listed)
- Cases: SDHx mutation carriers diagnosed for a SDHx-related tumor
- Controls: SDHx mutation carriers with no SDHx-related tumor
Key exclusion criteria (1 listed)
- Incapacity to exercise free and informed consent for the study
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Feasability of the protocol of a national case/control study (PGL.EXPO2)
Time frame: 2 years
Successful pairing of 50 cases with 50 controls
2 secondary outcomes
Feasibility of matching cases and controls
Time frame: 2 years
Ease of matching cases and controls
Time frame: 2 years
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 8 Jul 2026.
- Individual participant dataSharing planned: Yes. Individual participant data (IPD) that underlie results in publication could be shared.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Anne-Paule GIMENEZ-ROQUEPLO, MD, PhD principal investigator
Assistance Publique - Hôpitaux de Paris
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Genetic Predisposition and SDH Gene Mutation, run by Assistance Publique - Hôpitaux de Paris at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 8 Jul 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Feasability of the protocol of a national case/control study (PGL.EXPO2) (time frame: 2 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 8 Jul 2026.