NCT00230620

Molecular Studies on Hereditary Haemorrhagic Telangiectasia Families

Molecular Studies on Hereditary Haemorrhagic Telangiectasia Families With Pulmonary Arteriovenous Malformations

• Status: Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 1,000 (estimated)
• Sponsor: Imperial College London · Academic / Other
• Sex: All
• Age: —
• Healthy volunteers: Not accepted

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.

Conditions

• Telangiectasia, Hereditary Hemorrhagic

Timeline

• Start date: 1998-12-01
• Primary completion: 2030-04-01
• Completion: 2030-04-01
• First posted: 2005-10-03
• Last updated: 2023-09-28

Locations

1 site across 1 country: United Kingdom