Studies of White Blood Cells Derived From HHT Patients
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赞助商
Imperial College London
合作者
British Heart Foundation
临床试验: NCT00230633
BioSeek: nct00230633
关键词
抽象
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 take blood samples from patients with HHT, and culture white blood 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 media prompting different types of differentiation, or infection of cell lines with Epstein Barr virus to provide cell lines which can be repeatedly studied. It is anticipated that DNA, mRNA and proteins will be extracted from these cells for study of white 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.
日期
最后验证: | 09/30/2019 |
首次提交: | 09/28/2005 |
提交的预估入学人数: | 09/28/2005 |
首次发布: | 10/02/2005 |
上次提交的更新: | 10/06/2019 |
最近更新发布: | 10/08/2019 |
实际学习开始日期: | 03/31/2002 |
预计主要完成日期: | 09/30/2026 |
预计完成日期: | 09/30/2026 |
状况或疾病
Telangiectasia, Hereditary Hemorrhagic
相
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资格标准
有资格学习的性别 | All |
取样方式 | Non-Probability Sample |
接受健康志愿者 | 是 |
标准 | Inclusion Criteria: - Patients with HHT, - HHT patients family members Exclusion Criteria: - Unable to provide informed consent |
结果
主要结果指标
1. Proteins and cellular markers related to coagulation [on average completing in 1-5 years]
Not specified at outset. Blood samples will be collected over the recruitment period, usually on a single day. Analyses of biomarkers relate to the SAME DAY, within 24hs, though will be evaluated over subsequent months, on average completing in 1-5 years.