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Genetic Hallmarks of Patients With Congenital Portosystemic Shunts and Portopulmonary Hypertension

Study acronym: Gen-PoPH-CPSS
StatusNot Yet Recruiting
PhaseNot specified
Started
View on ClinicalTrials.gov ↗

Record History

  1. Re-verified, no change to tracked fieldsv2
  2. Study First Submitted
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.
Trial Details
NCT Number NCT07314814
Lead Sponsor Prof. Valérie Mc Lin
Conditions
(from sponsor)		 Portopulmonary Hypertension, Pulmonary Arterial Hypertension (PAH), Congenital Portosystemic Shunt
Related terms Congenital Portosystemic Shunt, Pulmonary Arterial Hypertension
Enrollment 120 participants
Start Date
Primary Completion (estimated)
Study Completion (estimated)
Updated on ClinicalTrials.gov