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NCT07314814: Gen-PoPH-CPSS

Genetic Hallmarks of Patients With Congenital Portosystemic Shunts and Portopulmonary Hypertension

Not yet recruiting Last updated 20 January 2026
What this trial tests

trial testing targeted gene panels analysis in Portopulmonary Hypertension in 120 participants. Not yet recruiting.

Timeline
1 February 2026
Primary endpoint
31 August 2029
31 January 2030

Quick facts

Lead sponsorProf. Valérie Mc Lin
StatusNot yet recruiting
Study typeOBSERVATIONAL
Enrollment120
Start date1 February 2026
Primary completion31 August 2029
Estimated completion31 January 2030
Sites1 location across Switzerland

Drugs / interventions tested

Conditions studied

Sponsor

Prof. Valérie Mc Lin

Who can join

Adults 1 Day to 99, any sex, with Portopulmonary Hypertension or Pulmonary Arterial Hypertension (PAH). Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

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.

Publications & conference data

No peer-reviewed publications indexed yet for this trial.

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Other Prof. Valérie Mc Lin trials

Trials by the same sponsor.

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Data sources for this page

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