Not yet recruitingEARLY_PHASE1INTERVENTIONAL

First-in-Human, Dose Escalation Trial of AXV-101 in BBS1-Related Retinal Degeneration

This research study is looking at a new medicine called AXV-101 for children and young people aged 4 to 17 who have a type of eye problem linked to Bardet-Biedl Syndrome 1 (BBS1). This condition causes vision to get worse over time. The main goals are to find out if AXV-101 is safe to use and how well people tolerate it. Researchers also want to find the best amount (dose) of the medicine to give and understand how it moves through the body after treatment. Participants will have regular eye checks and other health tests to see how their vision changes and to make sure they are safe. Some people will get the treatment in one eye, with the other eye used for comparison.

At a glance

Status

Not yet recruiting

Phase

EARLY_PHASE1

Sponsor

Axovia Therapeutics

Enrolment target

Start

01 May 2026

Estimated completion

01 Feb 2032

Bardet-Biedl Syndrome 1 Retinal Degeneration

What is this study about?

This study is a very early step in testing a new medicine called AXV-101. It's for children and young people aged 4 to 17 who have a specific genetic condition called Bardet-Biedl Syndrome 1, or BBS1. One of the main problems with BBS1 is a type of eye disease where vision gradually gets worse. This study is called a 'first-in-human' trial, which means it's the first time this medicine is being given to people. The main focus at this stage is to make sure the medicine is safe and to see if people can tolerate it without too many problems. We also want to work out the best dose of the medicine to give.

Key takeaways

This is a first-time test of a new medicine, AXV-101, for specific eye problems in Bardet-Biedl Syndrome 1 (BBS1).
It's for children and young people aged 4 to 17.
The main goals are to check the medicine's safety, how well people tolerate it, and to find the right dose.
Participation involves regular eye checks, other health tests, and possibly questionnaires over about a year.
One eye will receive treatment, the other will not, for comparison.
There might not be a direct benefit to participants, but the study helps future research.

Who may be eligible?

This study is looking for children and young people between 4 and 17 years old. To join, they must have a confirmed diagnosis of Bardet-Biedl Syndrome 1 (BBS1) due to specific genetic errors. This diagnosis needs to be confirmed by special genetic tests performed in an approved lab.

Participants also need to show signs of vision problems, such as their eyesight getting worse or difficulty seeing at night. Importantly, their eyes need to have enough healthy cells remaining that could potentially benefit from the treatment. This will be checked with special eye scans.

Parents or guardians must give their permission for their child to take part. Older children may also be asked to agree themselves. If the participant is old enough to have children, they must agree to use reliable contraception 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 between 4 and 17 years old?
Do you have a confirmed diagnosis of Bardet-Biedl Syndrome 1 (BBS1) due to specific genetic changes?
Are you experiencing vision problems like eyesight getting worse or difficulty seeing at night?
Do special eye scans show that there are still enough healthy cells in your eyes that could potentially be helped?
Are your parent(s)/guardian(s) willing to give permission for you to join this study?

Answer every question to see your result.

What does participation involve?

If you join this study, doctors will first check your general health and eyesight thoroughly. You will likely receive the new medicine, AXV-101, in one of your eyes. The other eye will not receive the medicine, so doctors can compare how they change over time. You'll need regular check-ups at the hospital, including detailed eye tests. They will also take blood, urine, and tear samples to see how your body handles the medicine and for safety checks. You and your family might also be asked to fill out questionnaires about how you are feeling and your quality of life. These visits will happen over about a year from when you start, and the total length of the study for each participant is one year.

Potential risks and benefits

There might not be any direct benefit to you from taking part in this early study. However, the information gathered could help future patients with BBS1 eye problems. As this is a new medicine, there might be side effects or risks that we don't know about yet. Study doctors will closely watch you for any problems. You can withdraw from the study at any time, for any reason, without it affecting your usual medical care.

Locations (1)

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

Moorfields Eye Hospital
Verified postcode
London, United Kingdom

Common questions

What is Bardet-Biedl Syndrome 1 (BBS1)?

BBS1 is a rare genetic condition that can affect many parts of the body, including causing vision problems that get worse over time.

What is AXV-101?

AXV-101 is a new medicine being tested for the first time in people to see if it can help with the eye problems caused by BBS1.

Will I receive the medicine in both eyes?

In this study, the medicine will likely be given to only one eye, while the other eye serves as a comparison to see the effects of the treatment more clearly.

How long will I be involved in the study?

If you join, you will be part of the study for about one year, with regular check-ups during that time.

Will I have to travel for appointments?

Yes, you will need to attend regular appointments at the study hospital for assessments and treatment.

How to find out more

Steffy George

steffy.george@axoviatherapeutics.com +44 7450953382 Official trial record

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