Study of Endothelial Cells in Patients With Hereditary Haemorrhagic Telangiectasia
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ClinicalTrials.gov Identifier: NCT00733629
Recruitment Status :
(Technical reasons- unable to process samples therefore did not recruit)
Hereditary Haemorrhagic Telangiectasia (HHT, also known as Osler-Weber-Rendu Syndrome) is an disease that leads to the development of dilated and fragile blood vessels. We propose to culture endothelial cells from patients with HHT, to culture cells that express the proteins mutated in HHT, namely endoglin and ALK-1. We will study the properties of these cells which will involve their growth in different conditions and anticipate that DNA, mRNA and proteins will be extracted from these cells for study of cell responses and association with expression levels of endoglin and ALK-1. We hypothesize that these cells which express "half-normal" endoglin or ALK-1 will show altered protein synthetic differences when compared to normal white blood cells. We anticipate that that these findings may help to explain aspects of the HHT disease phenotype.
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Layout table for eligibility information
Ages Eligible for Study:
Child, Adult, Older Adult
Sexes Eligible for Study:
Accepts Healthy Volunteers:
Patients with hereditary haemorrhagic telangiectasia
Patients with hereditary haemorrhagic telangiectasia and family members