NCT07101575: CARDI-HHT

Cardiac Evaluation in Hereditary Hemorrhagic Telangiectasia

Not yet recruiting Last updated 14 August 2025

What this trial tests

trial testing Transthoracic echocardiography in Hereditary Hemorrhagic Telangiectasia in 380 participants. Not yet recruiting.

Timeline

5 August 2025

Primary endpoint
5 August 2030

31 December 2030

Quick facts

Lead sponsor	Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Status	Not yet recruiting
Study type	OBSERVATIONAL
Enrollment	380
Start date	5 August 2025
Primary completion	5 August 2030
Estimated completion	31 December 2030

Drugs / interventions tested

• Transthoracic echocardiography

Conditions studied

• Hereditary Hemorrhagic Telangiectasia — all drugs for Hereditary Hemorrhagic Telangiectasia →

Sponsor

Fondazione Policlinico Universitario Agostino Gemelli IRCCS

Who can join

Adults 10 to 80, any sex, with Hereditary Hemorrhagic Telangiectasia. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

Hereditary haemorrhagic telangiectasia (HHT) is a rare autosomal dominant genetic disease associated with mutations in genes encoding proteins of the transforming growth factor β (TGF-β) family, i.e. endoglin (ENG), activin receptor A (ACVRL1), and SMAD 4 (small mother against decapentaplegic 4). Mutations in any of these genes lead to the onset of arteriovenous malformations (AVMs). The clinical consequences of this syndrome are primarily AVM-associated complications.

Major cardiovascular consequences occur in the more advanced stages, but their prevalence is low. Most HHT patients are asymptomatic, and ischemic heart disease has a significantly lower prevalence than in the general population. The limited sample size of studies currently published in the literature makes it difficult to characterize any subclinical cardiovascular alterations in asymptomatic HHT subjects.

Alterations in TGF-β family proteins likely result in a protective effect on the coronary circulation against atherosclerosis. A thorough understanding of the potential protective factors against coronary artery disease, underlying HHT alterations, may allow the development of gene therapy models inspired by the HHT phenotype. Some manifestations of extracellular matrix remodelling at the tissue level (i.e. myocardial and valvular) may be more prevalent in HHT patients than in the general population. Finally, any subclinical alterations in cardiac function related to chronic anaemia and possible iron overload due to iron replacement therapy are not yet known.

Primary objective of the study will be to perform a complete echocardiographic characterization, using new imaging methods aimed at identifying even subclinical dysfunctions of cardiac mechanics, including a phenotyping of the morphology and function of the valvular systems, as well as paradoxical shunts.

Secondary objectives of the study will be: 1) To verify whether there are echocardiographic differences, related to extracellular matrix remodelling, in addition to the presence of shunts, between the various HHT genotypes and to identify any genotype-phenotype correlations. 2)To verify the impact of chronic anaemia and iron supplementation on cardiac mechanics in relation to possible genotype-phenotype interactions.

About study methodology, collection and analysis of clinical and echocardiographic data will be obtained from routine cardiac assessments performed as part of the HHT clinical-care pathway.

Publications & conference data

No peer-reviewed publications indexed yet for this trial.