Active not recruitingOBSERVATIONAL

Studies of White Blood Cells Derived From HHT Patients

This research focuses on Hereditary Haemorrhagic Telangiectasia (HHT), a condition that causes fragile blood vessels. Even though HHT mainly affects blood vessels, some of the genes that cause it are also found in white blood cells. Researchers will collect blood samples from people with HHT and their family members. They will then study these white blood cells in the lab to see if there are any differences compared to white blood cells from healthy individuals. The aim is to understand how these differences might contribute to the signs and symptoms of HHT. By studying these cells, scientists hope to gain a better understanding of how HHT develops and affects the body.

At a glance

Status

Active not recruiting

Sponsor

Imperial College London

Enrolment target

200

Start

01 Apr 2002

Estimated completion

01 Oct 2026

Telangiectasia, Hereditary Hemorrhagic

What is this study about?

Hereditary Haemorrhagic Telangiectasia, often shortened to HHT, is a condition you inherit that affects your blood vessels. It makes them wider and more delicate than they should be, which can lead to problems like nosebleeds and bleeding in other parts of the body. Even though HHT affects blood vessels, the genes that cause it are also found in other cells, including your white blood cells, which are part of your immune system.

This study is trying to understand more about HHT by looking closely at these white blood cells. Researchers believe that if someone has HHT, their white blood cells might behave differently because of the changes in the HHT-related genes. They will take blood samples and then grow the white blood cells in the lab to study them. They'll look at how these cells respond to different things and how much of the HHT-related gene products they have.

The main goal is to see if these differences in white blood cells can help explain why HHT causes the problems it does. By learning more about these cells, scientists hope to get a clearer picture of how HHT works in the body. This understanding could potentially lead to new insights into the condition in the future.

Key takeaways

This study is about understanding Hereditary Haemorrhagic Telangiectasia (HHT).
It involves studying white blood cells from people with HHT and their families.
The goal is to learn how HHT genes affect these cells and how that might explain the condition.
Participation involves providing a blood sample.
It's a lab-based study, not a treatment study.
Your contribution helps advance HHT research.

Who may be eligible?

To join this study, you need to have a diagnosis of Hereditary Haemorrhagic Telangiectasia (HHT). This means your doctor has confirmed you have the condition.

Family members of people with HHT are also invited to take part. This helps the researchers compare cells from people with HHT to those who might carry some of the same genetic family background but not have the condition themselves. Researchers want to compare cells to understand the condition better.

Anyone who isn't able to understand the study and agree to take part (give informed consent) will not be able to join. The study is open to both men and women of all ages.

Could this study suit you?

Answer these quick questions to see if you may be eligible. This is a guide only — the research team makes the final call.

Do I have a confirmed diagnosis of HHT?
Am I a direct family member of someone with HHT?
Am I able to understand what the study involves and agree to take part?
Am I willing to provide a blood sample for research?

Answer every question to see your result.

What does participation involve?

Taking part in this study would involve providing blood samples. The researchers would then take these samples to their lab to study your white blood cells. They will grow these cells and examine them under different conditions to learn more about them. There are no medications involved in this particular study, nor are there ongoing visits or specific follow-up appointments related to the study itself. The participation mainly involves providing the blood sample for lab analysis.

Potential risks and benefits

The main benefit of taking part is contributing to a better understanding of HHT, which could help future research into the condition. The risks are minimal and are similar to those for any blood test, such as slight bruising or discomfort where the blood is taken, or rarely, feeling faint. You are free to withdraw from the study at any time without giving a reason, and it will not affect your medical care.

Locations (1)

Some site locations are approximate. We're improving this — please verify with the trial team before travelling.

Imperial College Hammersmith Campus
Verified postcode
London, United Kingdom

Common questions

What is HHT?

HHT, or Hereditary Haemorrhagic Telangiectasia, is an inherited condition that causes fragile and widened blood vessels, which can lead to bleeding problems.

Why are you studying white blood cells?

Even though HHT affects blood vessels, the genes linked to HHT are also found in white blood cells. Researchers want to see if these cells act differently in people with HHT to learn more about the condition.

Will I receive any treatment as part of this study?

No, this is a laboratory study focused on understanding HHT. It does not involve any treatment or medication.

How long will my blood sample be used?

Your white blood cells may be cultured (grown) in the lab, potentially for repeated study, which helps researchers investigate them over time.

Will I find out my results?

Generally, individual lab results from this type of research study are not shared with participants, as they are for group analysis to understand the condition as a whole.