Genetic causes of liver-to-lung blood vessel disorder
Part of Genetic & congenital, Heart & circulation, Lungs & breathing clinical trials.
This study looks for genetic causes of a rare combination of conditions: a liver blood vessel problem (congenital portosystemic shunt) and high blood pressure in the lungs (portopulmonary hypertension). It requires both parents and a sibling to also give blood samples so researchers can compare genes within the family.
Summary written for real people, not researchers, by Clin2.
Who can take part
- You (or your child) must have been diagnosed with both congenital portosystemic shunt (a liver blood vessel problem) and portopulmonary hypertension (high blood pressure in the lungs).
- Both biological parents must join the study and give a blood sample — this is required for the 'trio' (patient + both parents).
- The patient must already be enrolled in the IRCPSS registry.
- A full brother or sister must also agree to join and give a blood sample.
- No adopted children, half-siblings, or children from egg/sperm donation can be included in this family part.
- Everyone involved must sign a consent form and agree to give blood samples.
Quick eligibility check
Answer a few plain-language questions, based on this study's own requirements, to get a preliminary sense of fit.
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