NCT00733629

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.

Trial Health

30
At Risk

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Trial has exceeded expected completion date
Timeline
Completed

Started Aug 2002

Typical duration for all trials

Geographic Reach
1 country

1 active site

Status
withdrawn

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

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Study Timeline

Key milestones and dates

Study Start

First participant enrolled

August 1, 2002

Completed
3.6 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

March 1, 2006

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

March 1, 2006

Completed
2.5 years until next milestone

First Submitted

Initial submission to the registry

August 12, 2008

Completed
1 day until next milestone

First Posted

Study publicly available on registry

August 13, 2008

Completed
Last Updated

October 9, 2019

Status Verified

October 1, 2019

Enrollment Period

3.6 years

First QC Date

August 12, 2008

Last Update Submit

October 7, 2019

Conditions

Telangiectasia, Hereditary Hemorrhagic

Eligibility Criteria

Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

Patients with hereditary haemorrhagic telangiectasia

You may qualify if:

  • Patients with hereditary haemorrhagic telangiectasia and family members

You may not qualify if:

  • Unable to provide informed consent

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Imperial College Hammersmith Campus

London, W12 0NN, United Kingdom

Location

Biospecimen

Retention: SAMPLES WITHOUT DNA

Endothelial cells

MeSH Terms

Conditions

Telangiectasia, Hereditary Hemorrhagic

Condition Hierarchy (Ancestors)

Hemostatic DisordersVascular DiseasesCardiovascular DiseasesTelangiectasisHemorrhagic DisordersHematologic DiseasesHemic and Lymphatic DiseasesVascular MalformationsCardiovascular AbnormalitiesCongenital AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

  • Claire L Shovlin

    Imperial College London

    PRINCIPAL INVESTIGATOR
0

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

August 12, 2008

First Posted

August 13, 2008

Study Start

August 1, 2002

Primary Completion

March 1, 2006

Study Completion

March 1, 2006

Last Updated

October 9, 2019

Record last verified: 2019-10

Locations

GB(1)