Studies of White Blood Cells Derived From HHT Patients

Active, not recruiting

• Conditions: Telangiectasia, Hereditary Hemorrhagic

• Registration Number: NCT00230633
• Lead Sponsor: Imperial College London

Brief Summary

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.

Detailed Description

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.

Study Timeline

• Study Start: 2002-04
• Study First Submitted: 2005-09-29
• Study First Submitted QC: 2005-09-29
• Study First Posted: 2005-10-03
• Status Verified: 2023-09
• Last Update Submitted: 2023-09-25
• Last Update Posted: 2023-09-28
• Primary Completion: 2026-10
• Study Completion: 2026-10

Recruitment & Eligibility

• Status: ACTIVE_NOT_RECRUITING
• Sex: All
• Target Recruitment: 200

Inclusion Criteria

• Patients with HHT,
• HHT patients family members

Exclusion Criteria

• Unable to provide informed consent

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Proteins and cellular markers related to coagulation	on average completing each biomarker study in 1-5 years	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.

Trial Locations

Locations (1)

Imperial College Hammersmith Campus; 🇬🇧 London, United Kingdom