Molecular Studies on Hereditary Haemorrhagic Telangiectasia Families

Imperial College London

Status: Enrolling

Conditions: Telangiectasia, Hereditary Hemorrhagic

Study type: Observational

Funder types: Other

Identifiers

NCT00230620

IC/CLS1

Details and patient eligibility

About

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

Full 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.

Enrollment: 1,000 estimated patients

Sex: All

Volunteers: No Healthy Volunteers

Inclusion criteria

• Member of family affected by HHT

Exclusion criteria

• Unable or unwilling to provide informed consent for DNA sample

Trial design

1,000 participants in 1 patient group

Individuals with HHT and their families

Description:

No intervention - blood or saliva sample only