NCT07314814

Genetic Hallmarks of Patients With Congenital Portosystemic Shunts and Portopulmonary Hypertension

• Status: Not Yet Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 120 (estimated)
• Sponsor: Prof. Valérie Mc Lin · Academic / Other
• Sex: All
• Age: 1 Day – 99 Years
• Healthy volunteers: Accepted

Summary

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.

Conditions

• Portopulmonary Hypertension
• Pulmonary Arterial Hypertension (PAH)
• Congenital Portosystemic Shunt

Interventions

Type	Name	Description
GENETIC	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.
GENETIC	whole genome analysis	Family-based identification of dominant or recessive potentially pathogenic variants.

Timeline

• Start date: 2026-02-01
• Primary completion: 2029-08-31
• Completion: 2030-01-31
• First posted: 2026-01-02
• Last updated: 2026-01-20

Locations

1 site across 1 country: Switzerland