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Genetic Hallmarks of Patients With Congenital Portosystemic Shunts and Portopulmonary Hypertension

NCT07314814 · Status: NOT_YET_RECRUITING · Type: OBSERVATIONAL · Enrollment: 120

Last updated 2026-01-20

No results posted yet for this study

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

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.

Sponsors & Collaborators

  • Prof. Valérie Mc Lin

    lead OTHER

Eligibility

Min Age
1 Day
Max Age
99 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2026-02-01
Primary Completion
2029-08-31
Completion
2030-01-31

Countries

  • Switzerland

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT07314814 on ClinicalTrials.gov