We are proud to share an important milestone for the Bardet-Biedl Syndrome community.
The clinical trial that A Race Against Blindness has been fundraising to support has officially received approval from the Medicines and Healthcare products Regulatory Agency (MHRA) and is now publicly listed on ClinicalTrials.gov.
This marks a significant step forward for research focused on BBS1-related retinal degeneration and represents years of work by researchers, clinicians, and advocates committed to finding meaningful treatment options.
MHRA Approval: Why This Matters
MHRA approval is a rigorous regulatory process that evaluates whether a clinical trial meets strict standards for:
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Patient safety
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Ethical oversight
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Scientific and clinical trial design
For rare diseases like Bardet-Biedl Syndrome, reaching this stage is a meaningful achievement. It signals that a potential therapeutic approach has advanced from laboratory research into human clinical evaluation.
About the Clinical Trial
Study Title:
First-in-Human, Dose Escalation Trial of AXV-101 in BBS1-Related Retinal Degeneration (AXIS)
ClinicalTrials.gov ID: NCT07269665
🔗 https://clinicaltrials.gov/study/NCT07269665
Sponsor: Axovia Therapeutics
Phase: Early Phase 1
Study Type: Interventional, open-label
Location: United Kingdom
Who the Study Is Designed For
The trial is designed for:
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Children and adolescents aged 4–17
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Individuals with confirmed bi-allelic BBS1 mutations
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Participants showing signs of retinal degeneration
Up to 12 participants are expected to enroll.
How the Study Is Structured
The study is divided into two cohorts:
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Cohort 1:
Up to 3 participants will receive a minimally effective dose of AXV-101. Safety data is reviewed by an independent monitoring committee before progressing. -
Cohort 2:
Up to 9 participants will receive a therapeutic dose, with careful safety review after each administration.
AXV-101 is delivered as a single injection into one eye, allowing researchers to compare outcomes with the untreated eye.
What the Trial Is Measuring
The primary objective of this Phase 1 trial is to evaluate safety and tolerability.
Researchers will monitor:
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Adverse events and serious adverse events
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Long-term safety over a multi-year follow-up period
Secondary measures include:
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Determining an appropriate therapeutic dose
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Studying how the therapy is processed in the body
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Observing structural and functional retinal changes
The Role of A Race Against Blindness
This trial represents the power of community-driven research support.
Through fundraising, advocacy, and awareness efforts, our supporters helped advance this work from early development toward clinical testing. While A Race Against Blindness is not a sponsor or operator of the trial, we are deeply proud to support research that prioritizes the needs of families affected by BBS.
What Happens Next
The study is currently listed as Not Yet Recruiting.
Families interested in learning more should rely on ClinicalTrials.gov as the most accurate source of study updates and eligibility information.
We will continue to share major milestones as they occur.
A Moment Worth Recognizing
Clinical research moves carefully — and that is intentional. While this study does not promise outcomes, it does represent progress.
For BBS1-related retinal degeneration, a first-in-human gene therapy trial is no longer theoretical.
It is approved.
It is registered.
And it is moving forward. 🧡
A Personal Note
As parents and advocates, we understand how heavy words like clinical trial can feel — especially when vision loss is involved.
This milestone doesn’t change today or tomorrow. But it does represent years of perseverance, collaboration, and belief that children with BBS deserve continued investment in research.
We are grateful to everyone who has supported this work in any way. Your involvement matters more than you may realize.
— Kristina & Steve
A Race Against Blindness
