Molecular Studies on Hereditary Haemorrhagic Telangiectasia Families

Recruiting

• Conditions: Telangiectasia, Hereditary Hemorrhagic

• Registration Number: NCT00230620
• Lead Sponsor: Imperial College London

Brief Summary

This study will examine genes involved in the vascular dysplasia Hereditary haemorrhagic telangiectasia i(HHT)

Detailed Description

Hereditary haemorrhagic telangiectasia (HHT) is a condition inherited as an autosomal dominant trait. Sequencing DNA from affected and unaffected family members allows us to identify disease-causal genes. Sequencing these genes allows us to identify what the precise DNA variants are which are causing disease, particularly if linked to functional assays in separate studies.

Study Timeline

• Study Start: 1998-12
• Study First Submitted: 2005-09-29
• Study First Submitted QC: 2005-09-29
• Study First Posted: 2005-10-03
• Status Verified: 2023-09
• Last Update Submitted: 2023-09-25
• Last Update Posted: 2023-09-28
• Primary Completion: 2030-04
• Study Completion: 2030-04

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 1000

Inclusion Criteria

• Member of family affected by HHT

Exclusion Criteria

• Unable or unwilling to provide informed consent for DNA sample

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Trial Locations

Locations (1)

Imperial College Hammersmith Campus; 🇬🇧 London, United Kingdom