BBS Research

Research & Collaboration

Research is an integral part of the history and future of Bardet-Biedl Syndrome UK and enables us to improve the lives of those with the syndrome through better management and treatments and in understanding the underlying causes of the syndrome.

As a charity, we have been primarily patient support focused and are only just starting to consider our role with regards to research and collaboration with the scientific and medical professionals across the globe. Our aim is to engage with rare disease research, to share experience and knowledge of our genetic condition with others and network with similar organisations. Most importantly, we wish to share and publish updates regarding research to our members and patients.

BBS UK has developed its research policies to support us in future collaborations and have a comprehensive Research Policy and Guidelines, Scientific Advisory Board Policy and Research Statement and Pharma Policy which can viewed or downloaded at the link below.

Click here to download the BBS UK Research Statement & Pharma Policy

Research & Study of BBS

Gene Therapy for BBS1

At the BBS UK Annual Conference in April, 2025, Professor Phil Beales gave an important update on the world’s first gene therapy developed specifically for Bardet-Biedl Syndrome (BBS). The treatment, called AXV-101, is designed to preserve sight in people with BBS1.

Professor Beales explained that this therapy doesn’t fix the faulty genes and is not expected to restore lost vision. Instead, it works by adding a new, healthy copy of the BBS1 gene into the eye, to slow down further damage and to preserve remaining vision.

How It Works

The functioning gene is delivered using a harmless adeno-associated virus (AAV), injected into the retina, the part of the eye responsible for detecting light. The injection is done through a short procedure under anaesthetic. At first, only one eye is treated, so doctors can compare the results with the untreated eye. Trials in mice with BBS1 have shown that the treated eye retained its vision for life, while the untreated eye continued to deteriorate.

Professor Beales said the therapy is most likely to work if there are still enough healthy cells in the eye, and so the trial will focus on children and young people, whose vision is starting to decline, but who still have some sight left.

Who the Trial Is For

Twelve children and young people will be recruited to take part in a clinical trial starting in the UK. They must:

Be aged between 4 and 17

Have two confirmed changes in the BBS1 gene

Show signs of retinal degeneration but still have enough healthy cells to benefit from the treatment

The first few participants will receive a low dose to check for safety. If that goes well, others will receive a higher dose. Regular testing, including eye scans, vision tests, and quality-of-life questionnaires, will help researchers monitor results over time.

What Families Can Expect

The trial will take place at Great Ormond Street Hospital. Families will need to attend several appointments, especially in the first year, and be willing to stay involved for five years of follow-up.

Participants and their parents will receive detailed information and support throughout the trial. Consent documents have been carefully developed with input from BBS UK to ensure families understand what’s involved and feel supported throughout.

Risks and Safety

As with all medical procedures, there are risks. The most common is inflammation in the eye, which can usually be treated with steroids. Other possible risks include infection or retinal damage during injection, although these are rare. Because the treatment stays in the eye and doesn’t affect the whole body, overall risk is considered low. An independent committee will oversee the study to make sure it stays safe and ethical.

When Will It Start?

The team hopes to begin the trial in autumn 2025, depending on regulatory approval. This will be a Phase 1/2 study, designed to test safety first, and then look for early signs that the therapy is working.

Final Thoughts

Professor Beales closed the session with a message of hope. Although this is not a cure, and cannot restore vision where it has been lost, it represents a major step forward. The therapy could give children with BBS1 a better chance of maintaining vision for longer, something that wasn’t possible before.

We will keep this page updated as more information becomes available about this exciting research.

The Secret to a Bigger Better Brain

The ‘3 Minute Thesis’ competition (3MT) celebrates research conducted by PhD students around the world. The premise of the competition is simple: PhD students are set the challenge of explaining their research project to a non-specialist audience in just three minutes.

This entry by Dr Elizabeth Forsythe won the competition for University College London in 2018 and has been entered for the national semi-finals. It explains what happened when a group of children with the ciliopathy Bardet-Biedl Syndrome took part in a research study aiming to improve their memory and brain capacity. The exciting results show that our genes are not our only destiny, and that exercise really could be the secret to a bigger, better brain.