Studies genes in people with a liver bypass shunt and lung blood pressure problems
Looks for gene changes in people with a liver bypass shunt and portopulmonary hypertension.
Plain-language title generated from the registry record
Registry title: Genetic Hallmarks of Patients With Congenital Portosystemic Shunts and Portopulmonary Hypertension
Key facts
- Where
- Geneva, SwitzerlandSee the site
Where in Switzerland
- University Hospitals Geneva / University of GenevaGeneva, SwitzerlandNo longer taking part
Questions to ask the study team
- How often do I need to come in, and for how long each time?
- Are travel costs paid?
- Can I keep my own doctor?
- What happens if I want to stop?
Trial details
- Who runs it
- Prof. Valérie Mc Lin
- Trial code
- NCT07314814
- Record updated
- 20 January 2026
- Original description
Congenital portosystemic shunt (CPSS) are rare vascular malformations causing blood from the intestines to bypass the liver and directly flow into body's general circulation. Such liver bypass can cause several health problems, one of the most severe being portopulmonary hypertension (PoPH).Read full original descriptionShow less
Genetic Hallmarks of Patients With Congenital Portosystemic Shunts and Portopulmonary Hypertension
Congenital portosystemic shunt (CPSS) are rare vascular malformations causing blood from the intestines to bypass the liver and directly flow into body's general circulation. Such liver bypass can cause several health problems, one of the most severe being portopulmonary hypertension (PoPH).
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.
Inclusion: Patient is a participant to the IRCPSS with history of PoPH; 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: Trio condition is not met; 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.