Under construction – not a live service
Sign in
Not yet taking people in SwitzerlandNo phase

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.

Key facts

Who runs it
Prof. Valérie Mc Lin
Where
Geneva, SwitzerlandSee the site
Trial code
Registry title
Genetic Hallmarks of Patients With Congenital Portosystemic Shunts and Portopulmonary Hypertension
Status
Not yet recruiting
People taking part
120 people, planned
Started
1 Feb 2026
Expected to end
31 Jan 2030
Type of study
Observational
Treatments tested
  • targeted gene panels analysis
  • whole genome analysis
Record updated
20 January 2026

Who can take part

AI summary

From the trial's eligibility criteria. Machine-read from the registry text on this page, so it can be wrong. The registry text below and the trial team decide who can take part.

The trial is looking for children and adults who have a congenital portosystemic shunt (CPSS) and a history of portopulmonary hypertension (PoPH), together with their parents and brothers or sisters. All give blood samples for genetic tests.

Age
From 1 Day to 99 Years.
Sex
All sexes can join.
Disease stage
Patients must have a congenital portosystemic shunt (CPSS) and a history of portopulmonary hypertension (PoPH).

Main reasons for not taking part

  • Secondary portosystemic shunts
  • Parents and patient not forming a complete trio
  • Not genuine parent-child trios (donor conception or adoption)
  • Half-brothers, half-sisters, adopted children or children from donor conception as siblings
  • Refusing to give blood samples or withdrawing from the project

The registry criteria, word for word

Show all 11 criteriaShow less

Who can take part

  • 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

Who cannot take part

  • 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

Where in Switzerland

  • University Hospitals Geneva / University of GenevaGeneva, SwitzerlandContact: Prof. Dr. med Valérie A McLIn, MDNo longer taking part

About the trial

What the trial wants to find out

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

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.

The group in the trial

  • 30 families

    patient + parents+ siblings

    Treatment: targeted gene panels analysis and whole genome analysis

Questions to ask the study team

  1. How often do I need to come in, and for how long each time?
  2. Are travel costs paid?
  3. Can I keep my own doctor?
  4. What happens if I want to stop?

Contact the study team: see the registry record → Contacts and Locations

Print a page for my doctor

Data and sources

Registry record
Listed on ClinicalTrials.gov.
Official title
Genetic Hallmarks of Patients With Congenital Portosystemic Shunts and Portopulmonary Hypertension
Plain-language title
Studies genes in people with a liver bypass shunt and lung blood pressure problemsGenerated from the registry record. The registry title is the official one.
AI summary
From the trial's eligibility criteria. Read by machine on 13 November 2026.
Record updated
20 January 2026