RecruitingPhase IInterventional

Gene therapy study to assess the safety, tolerability and effectiveness of AXV-101 when injected into the eye in patients with a mutated BBS1 gene to prevent sight loss

This study is testing a new gene therapy, AXV-101, for children and young people aged 4 to 17 who have Bardet-Biedl syndrome 1 (BBS1) due to a specific gene change. This condition can lead to serious sight loss, and the study aims to see if an injection of AXV-101 into one eye can help protect their vision. Researchers want to understand if the treatment is safe, how well the body tolerates it, and if it makes a difference to their eyesight. Participants will be carefully monitored for five years, with one eye receiving the treatment and the other acting as a comparison. Before and after the injection, participants will take steroid medication to reduce the chance of side effects.

At a glance

Status

Recruiting

Phase

Phase I

Sponsor

Axovia Therapeutics Ltd

Enrolment target

Start

21 May 2026

Estimated completion

31 Mar 2027

Bardet-Biedl syndrome 1 (BBS1) mutation affecting multiple organs, including the eyes and vision

What is this study about?

This research study is looking at a new treatment called gene therapy for children and young people with a condition called Bardet-Biedl syndrome 1 (BBS1). This condition is caused by a specific change in their genes and can sadly lead to problems with many parts of the body, including severe sight loss. The new treatment, called AXV-101, is designed to be injected directly into one of the patient's eyes. The main goals of this study are to check if AXV-101 is safe to use, how well people's bodies handle it, and if it can help prevent or slow down sight loss.

In this study, researchers will compare the eye that receives the AXV-101 injection with the other eye that does not. This comparison helps them understand if any changes or improvements are genuinely due to the treatment. Because this is a very early-stage study (called Phase 1), a small number of participants will first receive a very small dose, and if that seems safe, more participants will receive a slightly higher dose. All participants will be closely monitored by a group of experts to ensure their safety throughout the study.

It's important to remember that this is a pioneering study, meaning it's one of the first times this treatment is being tried in humans. The information gathered will be crucial for understanding if this gene therapy could be a future treatment option for young people living with BBS1 and its impact on their vision. The study is planned to last for five years, with regular check-ups to track progress and safety.

Key takeaways

This study is testing a new gene therapy (AXV-101) for sight loss in children and young people with Bardet-Biedl syndrome 1 (BBS1).
It's a Phase 1 study, focused on checking safety and how well the treatment is tolerated in a small number of participants.
The treatment involves a single injection into one eye, with the other eye used for comparison.
Participants will take steroid medication before and after the injection to reduce potential immune reactions.
The study involves regular health and eye check-ups over 5 years.
It aims to understand if AXV-101 can help prevent or slow down vision loss caused by BBS1.

Who may be eligible?

To be able to join this study, candidates will need to be between 4 and 17 years old. They must have a confirmed diagnosis of Bardet-Biedl syndrome 1 (BBS1) caused by specific gene changes, which would have been identified through genetic testing carried out by a specialist lab.

Their eyes must also show signs of vision problems, such as a type of retinal degeneration (where the light-sensing cells in the eye start to break down), or issues with seeing in the dark. Doctors will also need to see that there are still enough healthy cells in the back of their eyes that could potentially benefit from the treatment, which they'll check using special eye scans.

Parents or guardians will need to give their permission for their child to take part in the study. For children who are old enough (generally 6 and over, depending on the doctor's judgment), their views will also be considered, and they may be asked to give their own agreement. There are also specific rules about contraception for older participants to ensure safety during the study.

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 or your child aged between 4 and 17 years old?
Do you/they have a confirmed diagnosis of Bardet-Biedl syndrome 1 (BBS1) due to specific gene changes?
Do you/they have signs of retinal degeneration or night vision problems, based on an eye doctor's diagnosis?
Do eye scans show there are still enough healthy cells in the eye that might benefit from the treatment?
Are parents/guardians willing to give consent for participation?
Are older participants (if applicable) willing to follow contraception guidelines during the study timeframe?

Answer every question to see your result.

What does participation involve?

If you or your child takes part in this study, the process will involve a few key steps over a total of five years.

Firstly, there are different groups, or 'cohorts,' that participants might be in. The first small group will receive a very low dose of AXV-101 in one eye, and if that's safe, more participants will join the next group and receive a slightly higher dose. Before the injection, all participants will start taking a course of steroid medication for about a week. This steroid treatment will continue for roughly three weeks after the injection to help prevent any immune reactions to the gene therapy.

The AXV-101 will be given as a single injection into one eye during a short surgical procedure. After the injection, you or your child will have regular eye and health check-ups for five years. These check-ups will be more frequent in the first year and then happen every six months or once a year. If a participant becomes an adult during the study, their care might be moved to a different medical facility that specialises in adult treatment, but it will still be part of the study.

Potential risks and benefits

At this early stage of the study, the potential benefits for those taking part are not yet fully known or listed. However, the hope is that this new gene therapy could one day help protect or improve the vision of people with BBS1. Regarding risks, there's a chance of an immune reaction to the treatment, but doctors will give steroid medication before and after the injection to help reduce this risk. As with any surgery, there's a small risk of infection from the eye injection. The study team will take great care to perform the procedure in a very clean environment to minimise this. There's also a very small, unlikely risk of liver problems, but regular blood tests will monitor liver health closely. Drawing blood for tests might cause a little discomfort or bruising, but the staff will try to make it as comfortable as possible. It’s important to remember that participating is entirely voluntary, and you are free to withdraw from the study at any time without giving a reason, and this will not affect your future medical care.

Locations (1)

Moorfields Eye Hospital
Approximate
London, England

Common questions

What is Bardet-Biedl syndrome 1 (BBS1)?

BBS1 is a genetic condition that can affect many parts of the body, including leading to serious vision problems and sight loss.

What is gene therapy?

Gene therapy is a new type of treatment that aims to correct problems caused by faulty genes. In this study, AXV-101 is designed to replace or fix the gene causing BBS1 related sight loss.

Will both eyes be treated?

No, only one eye will receive the AXV-101 injection. The other eye will be used as a comparison to see the effects of the treatment.

How long will the study last?

Participants will be followed for a period of 5 years to monitor the effects of the treatment and their overall health.

Who is funding and running this study?

The study is funded and run by a company called Axovia Therapeutics Ltd (UK).

How to find out more

Steffy George

Steffy.George@axoviatherapeutics.com - Official trial record

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