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Study of Endothelial Cells in Patients With Hereditary Haemorrhagic Telangiectasia

NCT00733629 · Status: WITHDRAWN · Type: OBSERVATIONAL

Last updated 2019-10-09

No results posted yet for this study

Summary

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.

Conditions

  • Telangiectasia, Hereditary Hemorrhagic

Sponsors & Collaborators

  • Imperial College London

    lead OTHER

Principal Investigators

  • Claire L Shovlin · Imperial College London

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2002-08-31
Primary Completion
2006-03-31
Completion
2006-03-31

Countries

  • United Kingdom

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT00733629 on ClinicalTrials.gov