Study of Endothelial Cells in Patients With Hereditary Haemorrhagic Telangiectasia

October 7, 2019 updated by: Imperial College London

In Vitro Studies pf Endothelial Cells Derived From HHT Patients

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.

Study Overview

Status

Withdrawn

Study Type

Observational

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

      • London, United Kingdom, W12 0NN
        • Imperial College Hammersmith Campus

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

Patients with hereditary haemorrhagic telangiectasia

Description

Inclusion Criteria:

  • Patients with hereditary haemorrhagic telangiectasia and family members

Exclusion Criteria:

  • Unable to provide informed consent

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

August 1, 2002

Primary Completion (Actual)

March 1, 2006

Study Completion (Actual)

March 1, 2006

Study Registration Dates

First Submitted

August 12, 2008

First Submitted That Met QC Criteria

August 12, 2008

First Posted (Estimate)

August 13, 2008

Study Record Updates

Last Update Posted (Actual)

October 9, 2019

Last Update Submitted That Met QC Criteria

October 7, 2019

Last Verified

October 1, 2019

More Information

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

Clinical Trials on Telangiectasia, Hereditary Hemorrhagic

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