Stress-Echography in Hereditary Haemorrhagic Telangiectasia Patient With Hepatic Involvement (ROSE)

Evaluation of the Value of Measuring Pulmonary Arterial Pressures During Exercise in Hereditary Haemorrhagic Telangiectasia Patients With Hepatic Involvement - Pilot Study

The hepatic involvement of HHT (Hereditary Haemorrhagic Telangiectasia) disease is characterised by the formation of arterio-sus-hepatic shunts which lead to dilatation of the hepatic artery and may result in high output heart failure. This evolves silently for long-standing period from left ventricular cavities dilatation to advanced heart failure with post-capillary pulmonary hypertension (PH) (more rarely pre-capillary), and its evolution is poorly understood. The specific treatment options for HHT disease are either the use of anti-angiogenic therapy (bevacizumab) or liver transplantation. As rest echocardiography can only detect advanced cases or heart failure with rest PH, the investigators speculate that exercise echocardiography can provide additional information in patients without rest PH. The hypothesis is that an exaggerated pulmonary pressure increase during exercise may precede the occurrence of rest PH in the course of the disease. It could identify patients with substantial heart failure at an earlier stage and may facilitate the access to liver transplantation. These parameters have never been studied in this context and it seems interesting to evaluate them in this pilot study.

The investigators hypothesise that HHT (Hereditary Haemorrhagic Telangiectasia) patients with hepatic involvement and cardiac high output will have significantly greater and/or earlier elevation of exercise pulmonary arterial pressures than those with normal cardiac output.

Study Overview

• Status: Completed
• Conditions: Hereditary Hemorrhagic Telangiectasia; Rendu Osler Disease
• Intervention / Treatment: Other: Stress echocardiography

• Study Type: Interventional
• Enrollment (Actual): 47
• Phase: Not Applicable

Contacts and Locations

Study Locations

• France
  • Bron, France, 69677
    • Service Explorations fonctionnelles cardiovasculaires - Hôpital Louis Pradel
  • Bron, France, 69677
    • Service génétique - Hôpital Femme Mère Enfant

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Adult; Older Adult
• Accepts Healthy Volunteers: No

Description

Inclusion Criteria:

• HHT patient > 18 yo
• Hepatic involvement (hepatic artery diameter > 6mm)
• Patient having received the information and signed the informed consent form
• Patient affiliated to a social security scheme or beneficiaries of a similar scheme

Exclusion Criteria:

• Haemoglobin < 90 g/L
• Active Infection
• Atrial Fibrillation permanent or persistent
• Known cardiopathy
• Pregnant or breastfeeding woman (by questioning)
• Adult subject to a legal protection measure (guardianship)
• Participation in another clinical trial that may interfere with the proposed trial (investigator judgment)
• Patient physically unable to pedal
• Patient with Pulmonary arteriovenous malformations awaiting embolization
• Patient treated with beta-blockers

Secondary Exclusion Criteria verified on rest ultrasound

• PAH (Pulmonary Arterial Hypertension) at rest (Vmax > 2.8 m/sec)
• Inability to obtain a stream of IT at rest
• Patient with atrial fibrillation (AF)

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Diagnostic
• Allocation: Non-Randomized
• Interventional Model: Parallel Assignment
• Masking: None (Open Label)

Number of Arms

2

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Other: HHT patients with hepatic involvement and high cardiac index; HHT patients with a dilated (diameter > 6mm) or tortuous hepatic artery and an elevated cardiac index (> 3.5 l/mn/m²)	Other: Stress echocardiography; After a rest trans thoracic echocardiography (usual follow-up), eligible patients will have a stress ultrasound echocardiography on a dedicated cycle ergometer
Other: HHT patients with hepatic involvement and normal cardiac index; HHT patients with a dilated or tortuous hepatic artery and a normal cardiac index	Other: Stress echocardiography; After a rest trans thoracic echocardiography (usual follow-up), eligible patients will have a stress ultrasound echocardiography on a dedicated cycle ergometer

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Comparison of exercise pulmonary artery systolic pressure in patients with HHT and liver involvement.	The systolic pulmonary artery pressure (PAPS) during exercise will be compared between the two groups of patients. PAPS will be estimated by the maximum velocity (Vmax) of tricuspid insufficiency flow at peak exercise on cardiac ultrasound.	Day 1

Collaborators and Investigators

• Sponsor: Hospices Civils de Lyon
• Investigators: Principal Investigator: Cyrille BERGEROT, MD, Service d'Explorations fonctionnelles cardiovasculaires - Hôpital Louis Pradel - HCL

Publications and helpful links

General Publications

• Dr. Cyrille Bergerot Co-Authors: Sophie Dupuis-Girod, MD; Alexandre Guilhem, MD; Thomas Barret, MD; Quentin Barrier, MD; Anne Emmanuelle Fargeton; Helene Thibault, MD, PhD. Exercise Pulmonary Arterial Pressure during Exercise Stress Echocardiography in Hereditary Hemorrhagic Telangiectasia. International Journal of Cardiology.

Study record dates

Study Major Dates

• Study Start (Actual): August 3, 2023
• Primary Completion (Actual): January 14, 2025
• Study Completion (Actual): January 14, 2025

Study Registration Dates

• First Submitted: July 13, 2023
• First Submitted That Met QC Criteria: July 13, 2023
• First Posted (Actual): July 20, 2023

Study Record Updates

• Last Update Posted (Actual): December 19, 2025
• Last Update Submitted That Met QC Criteria: December 13, 2025
• Last Verified: December 1, 2025

More Information

Terms related to this study

• Keywords: HHT; Stress echography; Pulmonary arterial pressures
• Additional Relevant MeSH Terms: Vascular Diseases; Cardiovascular Diseases; Hematologic Diseases; Congenital Abnormalities; Cardiovascular Abnormalities; Hemostatic Disorders; Hemorrhagic Disorders; Vascular Malformations; Telangiectasis; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Telangiectasia, Hereditary Hemorrhagic
• Other Study ID Numbers: 69HCL22_0487

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No