NCT05550376

Genotype-phenotype Association in Hereditary Hemorrhagic Telangiectasia

Genotype-phenotype Association Study of ENG and ACVRL1 Genes in the Inflammatory and Endothelial Response in Hereditary Hemorrhagic Telangiectasia (HHT)

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 85 (actual)
• Sponsor: Fundacion para la Investigacion Biomedica del Hospital Universitario Ramon y Cajal · Academic / Other
• Sex: All
• Age: 18 Years – 75 Years
• Healthy volunteers: Not accepted

Summary

The present project aims to study the inflammatory and endothelial responses involved in the differences in clinical events related to both genotypes (ENG vs. ACVRL1) in HHT. Accordingly, a cross-sectional study is proposed to evaluate the differences in circulating inflammatory and endothelial biomarkers, including interleukines, adhesion molecules, chemokines and immune regulatory molecules between both HHT groups.

Detailed description

Background and rationale: Hereditary Hemorrhagic Telangiectasia (HHT) is a rare disease characterized by a multisystemic vascular dysplasia with autosomal dominant inheritance, mainly caused by mutations in ENG and ACVRL1 genes. Even though those mutations have been related to different clinical manifestations, the molecular mechanisms involved in each genetic variant have not been clarified. Methods: A cohort study will be carried out to compare the incidence of clinical events after a 12-months follow-up. The ability of these biomarkers to predict the clinical events will be assessed in a multivariate analysis.

Conditions

• Hereditary Hemorrhagic Telangiectasia
• HHT
• Rendu Osler Weber Disease

Interventions

Type	Name	Description
OTHER	Registry	Non-interventional registry

Timeline

• Start date: 2021-04-30
• Primary completion: 2023-12-31
• Completion: 2023-12-31
• First posted: 2022-09-22
• Last updated: 2025-03-17

Locations

1 site across 1 country: Spain