Ignite Creation Date:
2024-05-06 @ 6:08 PM
Last Modification Date:
2024-10-26 @ 2:42 PM
Study NCT ID:
NCT05550376
Status:
ACTIVE_NOT_RECRUITING
Last Update Posted:
2024-01-26
First Post:
2022-09-19
Brief Title:
Genotype-phenotype Association in Hereditary Hemorrhagic Telangiectasia
Sponsor:
Fundacion para la Investigacion Biomedica del Hospital Universitario Ramon y Cajal
Organization:
Fundacion para la Investigacion Biomedica del Hospital Universitario Ramon y Cajal
Study Overview
Official Title:
Genotype-phenotype Association Study of ENG and ACVRL1 Genes in the Inflammatory and Endothelial Response in Hereditary Hemorrhagic Telangiectasia HHT
Status:
ACTIVE_NOT_RECRUITING
Status Verified Date:
2024-01
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
Generate-HHT
Brief 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
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None