Study of Endothelial Cells in Patients With Hereditary Haemorrhagic Telangiectasia

In Vitro Studies pf Endothelial Cells Derived From HHT Patients

Status

Withdrawn

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT00733629

Enrollment

Registered

2008-08-13

Start date

2002-08-31

Completion date

2006-03-31

Last updated

2019-10-09

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Telangiectasia, Hereditary Hemorrhagic

Brief 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.

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Healthy volunteers

Inclusion criteria

* Patients with hereditary haemorrhagic telangiectasia and family members

Exclusion criteria

* Unable to provide informed consent

Countries

United Kingdom

Outcome results