Portopulmonary HypertensionGen-PoPH-CPSSNCT07314814
Genetic Hallmarks of Patients With Congenital Portosystemic Shunts and Portopulmonary Hypertension
An observational study of Portopulmonary Hypertension and Pulmonary Arterial Hypertension (PAH), run by Prof. Valérie Mc Lin at 1 site in Switzerland.
Trial summary
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 more about this study
- Who is it for?
- Ages 1 day to 99 yearsHealthy volunteers can take part
- Conditions the study is for
- Portopulmonary Hypertension, Pulmonary Arterial Hypertension (PAH), Congenital Portosystemic Shunt
- What is being tested?
- targeted gene panels analysis and whole genome analysis
- How many people
- 120 participants
- Where
- 1 siteSwitzerland
- Study dates
- 1 Feb 2026to 31 Jan 2030
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 1 day to 99 years
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: Patient participant in the IRCPSS, with history of CPSS and PoPH ; both parents of the patient participants; possibly patient siblings.
Who may be able to join
- 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 join
- 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.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Switzerland1 site
University Hospitals Geneva / University of Geneva
Geneva, Canton of Geneva, 1205
About this study
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.
Read more
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.
- Conditions
- Portopulmonary Hypertension, Pulmonary Arterial Hypertension (PAH), Congenital Portosystemic Shunt
- Being tested
- targeted gene panels analysis, whole genome analysis
- Keywords
- CPSS, PoPH, PAH, Genetic, Genomic, IRCPSS
- Medical subject headings
- Pulmonary Arterial Hypertension, Congenital Portosystemic Shunt
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
targeted gene panels analysisGenetic
The 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 analysisGenetic
Family-based identification of dominant or recessive potentially pathogenic variants.
| Study group | Role | What they receive |
|---|---|---|
| 30 families | patient + parents+ siblings Receives: Genetic: targeted gene panels analysis; Genetic: whole genome analysis |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: From February 2026 to February 2029
List of variants from whole genome analysis
variants identified using family based search for dominant or recessive potentially pathogenic variants
Measured: Fron February 2026 to August 2029
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted2 Jan 2026
- Study start1 Feb 2026 (estimated)
- Primary completion31 Aug 2029 (estimated)
- Study completion31 Jan 2030 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Portopulmonary HypertensionStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Family based
- Time perspective
- Other
- Enrolment
- 120 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Prof. Valérie Mc Lin
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor-investigator, Prof. Valérie Mc Lin, University Hospital, Geneva
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07314814
- Sponsor's protocol ID
- 2024-01698
- Other IDs
- 2024-01698
- Acronym
- Gen-PoPH-CPSS
- Status last verified
- Jan 2026
- First submitted
- 18 Dec 2025
- Last updated
- 20 Jan 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided: to be determined
Study at a glance
From the registry record, last updated by the sponsor on 20 Jan 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Genetic Hallmarks of Patients With Congenital Portosystemic Shunts and Portopulmonary Hypertension
- ClinicalTrials.gov ID
- NCT07314814
- Acronym / sponsor ID
- Gen-PoPH-CPSS / 2024-01698
- Conditions
- Portopulmonary Hypertension, Pulmonary Arterial Hypertension (PAH), Congenital Portosystemic Shunt
- Keywords
- CPSS, PoPH, PAH, Genetic, Genomic, IRCPSS
- Study type
- Observational
- Recruitment status
- Not yet recruiting
- Enrolment
- 120 participants (estimated)
- Lead sponsor
- Prof. Valérie Mc LinUniversity, hospital or other
- Study start
- 1 Feb 2026 (estimated)
- Primary completion
- 31 Aug 2029 (estimated)
- Study completion
- 31 Jan 2030 (estimated)
- First posted
- 2 Jan 2026 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Family based
- Time perspective
- Other
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| 30 families | – | Genetic: targeted gene panels analysis, Genetic: whole genome analysispatient + parents+ siblings |
Who may qualify
- Ages
- 1 day to 99 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patient participant in the IRCPSS, with history of CPSS and PoPH ; both parents of the patient participants; possibly patient siblings.
Key inclusion criteria (5 listed)
- 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.
Key exclusion criteria (6 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| targeted gene panels analysisThe 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. | Genetic | 30 families |
| whole genome analysisFamily-based identification of dominant or recessive potentially pathogenic variants. | Genetic | 30 families |
Primary outcome
List of variants from targeted analysis of selected gene panels
Time frame: From February 2026 to February 2029
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
Time frame: Fron February 2026 to August 2029
variants identified using family based search for dominant or recessive potentially pathogenic variants
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 20 Jan 2026.
- Individual participant dataSharing planned: Undecided. to be determined
Related trials for Portopulmonary Hypertension
Not yet recruitingObservational study
Heart Problems in Children With Chronic Liver Disease
Chronic Liver Disease (CLD), Liver Cirrhosis
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Portopulmonary Hypertension and Pulmonary Arterial Hypertension (PAH), run by Prof. Valérie Mc Lin at 1 site in Switzerland.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 6 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: opening soon, as of the sponsor's last update on 20 Jan 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Switzerland. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Prof. Dr. med Valérie A McLIn, MD (+41223724545, valerie.mclin@hug.ch), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
List of variants from targeted analysis of selected gene panels (time frame: From February 2026 to February 2029). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 20 Jan 2026.