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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.
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1,000 participants in 1 patient group
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Central trial contact
Claire L Shovlin
Data sourced from clinicaltrials.gov
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