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NCT Number: NCT07314814

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.

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Key information

Conditions

Portopulmonary Hypertension Cardiovascular Abnormalities Cardiovascular Diseases Congenital Abnormalities Congenital Portosystemic Shunt Congenital, Hereditary, and Neonatal Diseases and Abnormalities Hypertension, Pulmonary Lung Diseases Pulmonary Arterial Hypertension Pulmonary Arterial Hypertension (PAH) Respiratory Tract Diseases Vascular Malformations

Age range

1 day–99 year

Sex eligibility

All sexes

Study type

Observational

Primary location

University Hospitals Geneva / University of Geneva

Geneva, Canton of Geneva, 1205, Switzerland

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

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 criteria

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.

Treatment and study plan

targeted gene panels analysis

Genetic

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

Genetic

Family-based identification of dominant or recessive potentially pathogenic variants.

Primary outcomes

List of variants from targeted analysis of selected gene panels

Time frame: From February 2026 to February 2029

presence/absence of pathogenic variants in known genes (pulmonary arterial hypertension ; hereditary hemorrhagic telangiectasia ; congenital heart disease) and potentially pathogenic variants in genes previously associated with PoPH in cirrhosis cohort.
List of variants from whole genome analysis

Time frame: Fron February 2026 to August 2029

variants identified using family based search for dominant or recessive potentially pathogenic variants

Study contacts

Contact information is provided by the study sponsor or research team.

Dr. phil. nat Isabelle Schepens, PhD

CONTACT

[email protected]

+41223724545

Prof. Dr. med Valérie A McLIn, MD

CONTACT

[email protected]

+41223724545

Sponsors and collaborators

Lead sponsor

Prof. Valérie Mc Lin

Other

Registry information

Acronym: Gen-PoPH-CPSS

Important dates

Study start: 2026
Primary completion: 2029
Study completion: 2030
First posted: Jan 2, 2026
Registry last updated: Jan 20, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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Completed