Molecular Studies on Hereditary Haemorrhagic Telangiectasia Families

Molecular Studies on Hereditary Haemorrhagic Telangiectasia Families With Pulmonary Arteriovenous Malformations

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT00230620

Enrollment

1000

Registered

2005-10-03

Start date

1998-12-31

Completion date

2030-04-30

Last updated

2023-09-28

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Telangiectasia, Hereditary Hemorrhagic

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.

Interventions

None listed

Study design

Observational model

FAMILY_BASED

Time perspective

OTHER

Eligibility

Sex/Gender

ALL

Healthy volunteers

Inclusion criteria

* Member of family affected by HHT

Exclusion criteria

* Unable or unwilling to provide informed consent for DNA sample

Countries

United Kingdom

Contacts

Primary ContactClaire L Shovlin

c.shovlin@imperial.ac.uk0208 383 1000

Outcome results