An observational study in Telangiectasia, Hereditary Hemorrhagic, sponsored by Imperial College London. Active, not recruiting at 1 site in United Kingdom. Per ClinicalTrials.gov, last updated 2023-09-28.
Sponsored by Imperial College London · Observational
Hereditary Haemorrhagic Telangiectasia (HHT, also known as Osler-Weber-Rendu Syndrome) is an inherited vascular disease that leads to the development of dilated and fragile blood vessels. The study goal is to culture white blood cells that express the proteins mutated in HHT and examine in the laboratory to explain aspects of the HHT disease phenotype.
HHT is a vascular condition but many of the genes that are mutated to cause HHT (endoglin, ALK-1 and SMAD4) are also expressed in white blood cells. In this study, investigators will take blood samples from people with HHT, culture the white blood cells and study their properties 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. RNA and proteins will be extracted from these cells for study of white cell responses and association with expression levels of endoglin, ALK-1 and SMAD4. The investigators hypothesize that these cells which express "half-normal" endoglin, ALK-1 or SMAD4 will show differences when compared to normal white blood cells. It is also anticipated that that these findings may help to explain aspects of the HHT disease phenotype.
102 studies on the registry are indexed under Telangiectasia, Hereditary Hemorrhagic; 24 are open to participants now.
This study's planned enrollment of 200 is close to the median of 207 across 39 observational studies indexed under Telangiectasia, Hereditary Hemorrhagic.
Browse Telangiectasia, Hereditary Hemorrhagic studies →Imperial College London is the lead sponsor of 842 studies on the registry; 180 are open to participants now.
Of its 9 completed or terminated interventional studies of FDA-regulated products, 6 (67%) have results posted.
Counted across the registry records on this site, refreshed daily.
Patients with hereditary hemorrhagic telangiectasia (HHT) and controls
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Exclusion Criteria:
People with molecularly confirmed HHT. No intervention, blood sample only
People without HHT No intervention, blood sample only
Proteins and cellular markers related to coagulation
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.
Time frame: on average completing each biomarker study in 1-5 years
This study is active, not recruiting, as verified in Sep 2023. You cannot join it, but the record below documents what was studied.
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Telangiectasia, Hereditary Hemorrhagic →