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Genotype-phenotype Association in Hereditary Hemorrhagic Telangiectasia — Generate-HHT  

Hereditary Hemorrhagic Telangiectasia Clinical Trial

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

Clinical Trial 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.

Clinical Trial 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. ;

Study Design

Related Conditions & MeSH terms

  • Hereditary Hemorrhagic Telangiectasia
  • HHT
  • Telangiectasia, Hereditary Hemorrhagic
  • Telangiectasis
Clinical Trial Details
NCT number NCT05550376
Study type Observational [Patient Registry]
Source Fundacion para la Investigacion Biomedica del Hospital Universitario Ramon y Cajal
Contact
Status Active, not recruiting
Phase
Start date April 30, 2021
Completion date June 30, 2024
View Details
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