RecruitingNAINTERVENTIONAL

Liver Biopsy In Haemophilia Gene Therapy

This study aims to understand how gene therapy for severe haemophilia A and B works inside the liver. If you’ve had gene therapy and your body is now making more than 1% of the clotting factor (FVIII or FIX), researchers want to take a small liver sample, called a biopsy. This biopsy will help them see how the new gene integrates into liver cells. Understanding this process will give doctors more information about how this type of gene therapy works long-term and its effects on liver cells. The findings will help improve future gene treatments, making them safer and more effective for patients, including those considering this option.

At a glance

Status

Recruiting

Phase

Sponsor

University College, London

Enrolment target

Start

05 Aug 2022

Estimated completion

01 Jul 2025

Hemophilia B, Severe Hemophilia A, Severe

What is this study about?

This study is about understanding how gene therapy works for people with severe haemophilia A or B. Gene therapy aims to help your body produce the missing clotting factor (either FVIII for haemophilia A or FIX for haemophilia B) to prevent bleeding.

After gene therapy, the new genetic material goes into your liver cells. Researchers want to take a tiny sample of your liver, called a biopsy, to look closely at these cells. They want to find out how the new genetic material settles into the liver cells and if it becomes a permanent part of your own cell's DNA, or if it stays as a separate, but stable, piece of genetic code. This information is really important because it helps scientists understand why gene therapy continues to work over a long time.

By examining these liver samples, the study will provide clearer insights into how the gene therapy virus (AAV) works in human liver cells, how many cells are successfully treated, and what happens to these cells over time. This will include looking at any changes in how genes in the liver cells behave. All of this knowledge will help make gene therapy even safer and more effective for people with haemophilia in the future. It's about learning from current treatments to improve future ones.

Key takeaways

This study investigates how haemophilia gene therapy works in the liver.
It involves a single liver biopsy to collect tissue for analysis.
The findings will improve future gene therapy safety and effectiveness.
Participants must have previously received gene therapy at Royal Free Hospital.
Your contribution helps advance haemophilia treatment for others.

Who may be eligible?

This study is looking for men aged between 18 and 80 years old. To be included, you must have previously taken part in one of three specific gene therapy trials for haemophilia at the Royal Free Hospital. You would also need to be already producing more than 1% of your natural clotting factor (FVIII or FIX) after your gene therapy.

There are several reasons why you might not be able to join. For example, if your platelet count (important for blood clotting) is too low, or if you have problems with your kidneys. If you've had a bad reaction to certain medical substances like iodine-based dyes or anaesthetics, or to FVIII/FIX concentrate infusions, you wouldn't be able to take part. Also, if you have other bleeding disorders or have developed inhibitors (antibodies that stop the treatment from working) to FVIII or FIX, you won't be eligible.

Finally, you must be able to understand the study and agree to take part by signing an informed consent form. The study team will make sure it's safe for you to participate and that you can follow all the study's requirements.

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.

Are you a man aged 18 to 80?
Did you receive gene therapy for haemophilia at Royal Free Hospital in one of the listed trials?
Are you currently producing more than 1% of your clotting factor (FVIII or FIX) after gene therapy?
Do you have a healthy platelet count and normal kidney function?
Have you previously had a liver biopsy or are you comfortable with the procedure?

Answer every question to see your result.

What does participation involve?

This study involves a single procedure: a liver biopsy. This is a medical procedure where a very small sample of your liver tissue is taken. Before the biopsy, you'll have some checks to make sure it's safe for you to have the procedure. You'll also be closely monitored afterwards to make sure you recover well. The exact number of visits and the total duration aren't fully detailed, but the main commitment is to undergo this one biopsy procedure and the related preparation and recovery.

Potential risks and benefits

The main benefit of taking part is contributing valuable information that will help improve gene therapy treatments for haemophilia in the future. This study will give researchers a much better understanding of how gene therapy works long-term in the human liver, which is crucial for developing safer and more effective treatments. As with any medical procedure, there are potential risks associated with a liver biopsy, such as pain, bleeding, or, rarely, infection. The research team will explain all these risks in detail. You have the right to withdraw from the study at any time, for any reason, without it affecting your medical care.

Locations (1)

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

Royal Free Hospital
Verified postcode
London, United Kingdom· Recruiting

Common questions

What is a liver biopsy?

A liver biopsy is a procedure where a doctor takes a small piece of your liver tissue, usually with a needle, to look at it under a microscope.

Why is a biopsy needed for this study?

The biopsy helps researchers see exactly how the gene therapy is working inside your liver cells and how it's affecting them over time.

Will the biopsy hurt?

You will be given local or general anaesthetic to make the procedure as comfortable as possible. You might feel some discomfort afterwards.

What do I need to do to take part?

You would need to have had gene therapy at Royal Free Hospital, meet certain health conditions, and be willing to undergo a liver biopsy.

How will this study help me?

While it might not directly benefit you personally, your participation will greatly help improve gene therapy for haemophilia, making it better for future patients.

How to find out more

Paul Batty

paul.batty@ucl.ac.uk 020 7794 0500 Official trial record

Always speak to your GP or specialist before deciding to take part in a study.