Earlier this month, our team attended the Gene Therapy for Ophthalmic Disorders Summit, a gathering of leading scientists, clinicians, biotech innovators, and regulatory experts who are shaping the future of treatments for inherited retinal diseases (IRDs). While not every session directly applied to Bardet-Biedl Syndrome (BBS) or retinitis pigmentosa (RP), many of the discussions were deeply relevant to what families in our community are hoping, waiting, and fighting for: safe, effective treatments delivered as quickly as possible.
This blog is the first in a three-part series breaking down the most meaningful insights from the summit — and explaining what they really mean for you.
A Field Moving Faster Than Ever
One thing was unmistakable at this year's summit:
Gene therapy for vision loss is accelerating.
Researchers emphasized:
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Faster regulatory pathways
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New delivery technologies
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More flexible clinical trial designs
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Greater acceptance of modern functional vision endpoints
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A growing global commitment to rare eye diseases
For families navigating BBS or RP — diseases that steal vision day by day — this momentum matters. Every innovation that speeds up study timelines or improves trial success rates brings us one step closer to treatments that could preserve sight.
1. New Vision Testing Methods Could Speed Up Trials
Traditional vision tests like visual acuity or visual fields often fail to capture early changes in rare, slowly progressive diseases. That means trials can stall, or drugs can’t prove benefit quickly enough.
At the summit, experts highlighted novel ophthalmic endpoints that are gaining traction with the FDA and global regulators:
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Microperimetry – maps functional retinal sensitivity
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Full-field sensitivity testing (FST) – used widely in IRDs, including BBS
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Patient-reported outcomes – capturing what vision changes mean in real life
Why this matters:
These tools allow clinical trials to detect meaningful improvements or slowing of degeneration sooner — potentially shaving years off development timelines.
For BBS families, earlier detection = earlier proof of benefit = earlier access to treatment.
2. Exciting Growth in Gene-Agnostic Therapies
Not all therapies target a specific mutation. Several summit sessions focused on “mutation-agnostic” approaches like optogenetics — technology that can help people even after photoreceptors have been severely damaged.
Why this is relevant:
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BBS involves many genetic variants — not all will have mutation-specific therapy quickly.
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Optogenetic therapies aim to help regardless of genotype.
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Some approaches work even when photoreceptors are already lost.
For families worried about “running out of time,” this was one of the most hopeful developments.
3. Breakthroughs in Delivery Technologies
A large portion of the conference focused on optimizing how gene therapy actually reaches the retina. Presentations compared:
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Subretinal delivery (most precise, surgical)
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Intravitreal delivery (less invasive, but harder to reach target cells)
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Suprachoroidal delivery (a promising emerging route)
Researchers demonstrated how small refinements in delivery can dramatically improve:
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Treatment safety
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Gene expression
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Consistency across patients
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Overall therapeutic success
For BBS gene therapy efforts, delivery is one of the biggest technical challenges — and seeing how the field is addressing it head-on is incredibly encouraging.
4. More Efficient Trial Designs for Rare Diseases
Another key theme was the need to rethink how rare-disease trials are structured. Speakers shared strategies for:
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Designing small, efficient early-phase studies
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Justifying limited patient populations
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Reducing regulatory delays
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Improving global trial coordination
For a rare disease like BBS, these insights matter tremendously.
Faster approvals of early-phase designs mean clinical trials can launch sooner — when vision is still present and can still be preserved.
5. Patient Voices Are Now Driving Regulatory Pathways
One of the most meaningful messages of the summit was this:
Patient advocacy organizations are essential to accelerating gene therapy.
Speakers emphasized that:
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Patient groups influence FDA endpoint selection
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Nonprofits help de-risk early research
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Advocacy organizations speed enrollment and trial readiness
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Funding from communities enables development before investors step in
This validated everything we do here at A Race Against Blindness.
We advocate.
We fund early development.
We push for urgency.
We amplify the patient voice.
And most importantly —
We ensure that children have a chance at vision-saving treatment before it’s too late.
Why This Summit Matters for Our Community
Attending this conference confirmed what we already believed:
We are in the right place, at the right time, doing exactly what needs to be done.
The science is moving.
Regulators are listening.
Innovators are collaborating.
And hope — grounded in real, measurable progress — is growing.
For families facing BBS and RP, these developments aren’t abstract. They are the stepping stones toward clinical trials that may preserve the vision children still have today.
This is why we work urgently.
This is why we fundraise relentlessly.
This is why your support matters now more than ever.
Part 2 Coming Soon
The next article in this series will dive deeper into the science presented at the summit — including capsid engineering, delivery breakthroughs, and gene-agnostic technologies — and explain what they mean for the future of treating BBS and other inherited retinal diseases.
