At the Gene Therapy for Ophthalmic Disorders Summit, one theme rose above the science, the data, and the regulatory discussions:
patient advocacy is no longer optional — it is essential to the development and approval of gene therapies for rare diseases.
For families facing rapidly progressive vision loss from Bardet-Biedl Syndrome (BBS) or retinitis pigmentosa (RP), that message carries enormous weight. It affirms what our community already knows: progress does not happen on its own. It happens when families, nonprofits, researchers, regulators, and biotech partners push together in the same direction.
This blog explores why advocacy organizations like A Race Against Blindness play a critical role in shaping the future of treatment — and why our work is not just important, but urgently needed.
1. Advocates Help Set the Direction for Research
One of the clearest messages from summit speakers was that patient communities influence which therapies get pursued — and how quickly.
Why?
Because rare diseases lack:
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Large patient populations
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Large financial incentives for pharmaceutical companies
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Widely established clinical endpoints
This means patients themselves become the drivers of progress.
Advocacy groups help researchers and biotech companies understand:
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What symptoms matter most
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What families fear
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What outcomes count as meaningful
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What timelines are realistic (and which are too slow)
When families speak, the field listens.
2. Advocacy Helps Accelerate FDA Pathways
Regulators are increasingly engaging directly with patient communities. This is especially important in rare diseases, where:
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Standard vision tests may not capture early improvements
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Trial populations are small
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Traditional endpoints are too slow or insensitive
When patient groups partner with researchers to present data, share lived experiences, and advocate for flexible endpoints, the FDA gains the context it needs to support:
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Earlier-phase approvals
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Adaptive trial designs
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Gene therapy exemptions
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Acceptance of modern functional tests like FST and microperimetry
These shifts are transforming what is possible for rare eye diseases.
3. Nonprofits Help De-Risk Early Research
Another major point from the summit:
biotech companies often cannot justify early-stage research investment without early financial support.
For diseases with small patient populations — like BBS — this is even more true.
Nonprofits like A Race Against Blindness help bridge this gap by:
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Funding foundational research
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Supporting IND-enabling work
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Demonstrating patient interest and trial readiness
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Reducing financial risk for industry partners
This is why our fundraising is both urgent and essential.
It isn’t “extra” — it’s the engine that gets early research off the ground.
4. Patients Shape Trial Design and Real-World Feasibility
Long-term follow-up is required in almost every gene therapy trial — often stretching 5 to 10 years.
But families managing work, travel, school, childcare, and vision loss can face major participation barriers.
Summit experts emphasized that trial success depends on:
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Flexible scheduling
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Travel assistance
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Family-centered communication
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Realistic burden reduction
When patient communities speak openly about these needs, trial designs improve — and retention rates increase.
5. Advocacy Creates Awareness — which Accelerates Everything Else
Rare diseases remain rare until enough people know about them.
Conference speakers highlighted something powerful:
Awareness drives funding.
Funding drives research.
Research drives clinical trials.
Clinical trials drive treatments.
Our advertising campaigns, community stories, social media presence, and public-facing fundraisers do more than raise money — they create visibility.
And visibility is often the difference between a therapy being developed
and a therapy being ignored.
6. Progress Happens When Patients Lead
The summit reinforced a truth our community already lives every day:
Families affected by rare disease are not passive observers.
They are co-creators of the future of treatment.
Whether you donate, share our content, enter a fundraiser, advocate online, or simply stay informed, you are part of the movement accelerating new therapies for BBS and inherited retinal diseases.
In conference rooms full of scientists, clinicians, and innovators, the message was clear:
none of this happens without you.
