Molecular Studies on Hereditary Haemorrhagic Telangiectasia Families

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

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Interested in participating?

Key information

Conditions

Telangiectasia, Hereditary Hemorrhagic Cardiovascular Abnormalities Cardiovascular Diseases Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Hematologic Diseases Hemic and Lymphatic Diseases Hemorrhagic Disorders Hemostatic Disorders Telangiectasis Vascular Diseases Vascular Malformations

Sex eligibility

All sexes

Study type

Observational

Primary location

Imperial College Hammersmith Campus

London, W12 0NN, United Kingdom

Location status: Recruiting

Location contact

Claire L Shovlin

CONTACT

[email protected]

0208 383 1000

Claire L Shovlin

PRINCIPAL_INVESTIGATOR

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

Member of family affected by HHT

Exclusion criteria

Unable or unwilling to provide informed consent for DNA sample

Study contacts

Contact information is provided by the study sponsor or research team.

Claire L Shovlin

CONTACT

[email protected]

0208 383 1000

Sponsors and collaborators

Lead sponsor

Imperial College London

Other

Collaborators

British Heart Foundation

Registry information

Official study title

Molecular Studies on Hereditary Haemorrhagic Telangiectasia Families With Pulmonary Arteriovenous Malformations

Important dates

Study start: 1998
Primary completion: 2030
Study completion: 2030
First posted: Oct 3, 2005
Registry last updated: Sep 28, 2023

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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Recruiting