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Molecular Studies on Hereditary Haemorrhagic Telangiectasia Families

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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

Trial contacts and locations

1

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Central trial contact

Claire L Shovlin

Data sourced from clinicaltrials.gov

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