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.
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.
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
Patient participant in the IRCPSS, with history of CPSS and PoPH ; both parents of the patient participants; possibly patient siblings.
Family-based
Other
targeted gene panels analysis
GeneticThe 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
GeneticFamily-based identification of dominant or recessive potentially pathogenic variants.
List of variants from targeted analysis of selected gene panels
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
variants identified using family based search for dominant or recessive potentially pathogenic variants
Click on the lead sponsor to view all of their trials.
Prof. Valérie Mc Lin
Lead sponsor
University Hospital, Geneva
Sponsor institution
This trial is not recruiting at the moment. You can still explore other options:
