NCT07314814Not yet recruiting
Genetic Hallmarks of Patients With Congenital Portosystemic Shunts and Portopulmonary Hypertension
Source: ClinicalTrials.gov · Last updated 20 Jan 2026
Brief summary (registry, in English)
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.
- Status (registry)
- Not yet recruiting
- Study type
- Observational
- Enrollment
- 120 (estimated)
- First submitted
- 18 Dec 2025
- Start date
- 1 Feb 2026
- Primary completion date
- 31 Aug 2029
- Lead sponsor
- Prof. Valérie Mc Lin
- NCT number
- NCT07314814
What you commit to
- Study type: Observational
- Planned participants: 120
- From 1 Feb 2026 to the primary completion date, 31 Aug 2029
- 1 site in 1 country
- Visits and tests: ask the trial team, the registry does not list them
Built from the registry fields of ClinicalTrials.gov. It describes the study, not your situation.
Who cannot take part
Copied verbatim from ClinicalTrials.gov and grouped by topic. Only the trial team decides who can take part.
Other illness
- Trio condition is not met.
Other
- 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.
Who the study is looking for
- 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.
Age in the registry: 1 day to 99 years · Sex: All · Accepts healthy volunteers
Sites (1)
Sites in registry order. Pick your city on the disease page to sort them by distance.
| Site | City | Country | Site status |
|---|---|---|---|
| University Hospitals Geneva / University of Geneva Coordinator of this site? Confirm its status | Geneva | Switzerland | Unknown status |
This page is information, not medical advice. Discuss any trial with your doctor.