Genetic Hallmarks of Patients With Congenital Portosystemic Shunts and Portopulmonary Hypertension
NCT ID: NCT07314814
Last Updated: 2026-01-20
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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NOT_YET_RECRUITING
120 participants
OBSERVATIONAL
2026-02-01
2030-01-31
Brief Summary
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The goal of this study is to identify pathogenic and potentially pathogenic genetic variants in patients who have both CPSS and PoPH. Future research will assess the contribution of these genetic variants to the development of PoPH.
The long-term goal is to use genetic information to identify patients with congenital portosystemic shunts (CPSS) or chronic liver disease who are at risk of developing PoPH to offer anticipatory management.
Children and adult patients with both CPSS and PoPH, as well as their close relatives (patient's parents and siblings) can take part in the study. Genetic variations within each family will be studied.
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Detailed Description
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Conditions
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Study Design
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FAMILY_BASED
OTHER
Study Groups
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30 families
patient + parents+ siblings
targeted gene panels analysis
The following gene panels will be analyzed : pulmonary arterial hypertension ; hereditary hemorrhagic telangiectasia ; congenital heart disease and potentially pathogenic variants in genes previously associated with PoPH in cirrhosis cohort.
whole genome analysis
Family-based identification of dominant or recessive potentially pathogenic variants.
Interventions
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targeted gene panels analysis
The following gene panels will be analyzed : pulmonary arterial hypertension ; hereditary hemorrhagic telangiectasia ; congenital heart disease and potentially pathogenic variants in genes previously associated with PoPH in cirrhosis cohort.
whole genome analysis
Family-based identification of dominant or recessive potentially pathogenic variants.
Eligibility Criteria
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Inclusion Criteria
* Trios composed of CPSS PoPH patients and their parents (trios are mandatory)
* Brother/sister of an enrolled patient
* Trios accept to provide biological samples (blood), sign the inform consent.
* Siblings and/or siblings' legal representatives accept to provide biological samples (blood), sign the inform consent.
Exclusion Criteria
* No genuine parent-offspring trios (check for medically assisted procreation with donors, and adoption)
* For siblings, half-brothers or half-sisters are excluded, as well as adopted children, or children issued from medically assisted procreation with donors.
* Secondary portosystemic shunts
* The refusal by the patient or the patient's legal representatives to provide biological samples or agree with the proposed procedure or after voluntary withdrawal from the project.
* The refusal of one of the parents to provide biological samples or to agree with the proposed procedure or after voluntary withdrawal from the project.
1 Day
99 Years
ALL
Yes
Sponsors
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Prof. Valérie Mc Lin
OTHER
Responsible Party
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Prof. Valérie Mc Lin
Prof. Dr. Med.
Locations
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University Hospitals Geneva / University of Geneva
Geneva, Canton of Geneva, Switzerland
Countries
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Central Contacts
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Other Identifiers
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2024-01698
Identifier Type: OTHER
Identifier Source: secondary_id
2024-01698
Identifier Type: -
Identifier Source: org_study_id
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