In a remarkable show of unity and commitment to eye health, the Alliance for Eye and Vision
Research (AEVR) hosted a highly successful congressional briefing focused on two impactful but
lesser-known eye diseases: retinitis pigmentosa (RP) and Stargardt disease. Held at the Capitol,
the event brought together policymakers, researchers, patient advocates, and members of the
vision health community to shed light on these conditions and underscore the critical importance
of research funding.
Despite their relative obscurity, RP and Stargardt disease can significantly affect vision and
quality of life if left untreated. RP, a group of genetic disorders, leads to the progressive loss of
vision due to the degeneration of the retina, while Stargardt disease, the most common form of
inherited juvenile macular degeneration, causes central vision loss, often beginning in childhood
or adolescence. Both diseases currently have no cure, making research funding crucial for
developing effective treatments.
Abigail Fahim MD, PhD, is a clinician-scientist, provided an overview of the latest scientific
advancements in the study of RP. She discussed promising gene therapies and innovative
treatment approaches that are currently under investigation, emphasizing the potential for these
developments to halt or even reverse the progression of RP and Stargardt disease. Dr. Fahim
underscored the need for sustained and robust funding to continue this vital work.
A highlight of the briefing was the impactful presentation by Leonide Saad, Ph.D., Founder and
CEO of Alkeus Pharmaceuticals. Dr. Saad detailed how FDA and NIH/NEI funding has been
instrumental in building his company, advancing scientific and clinical research, and developing
potential treatments for serious blinding conditions. Since its inception in 2010, Alkeus
Pharmaceuticals has been on a mission to transform lives by developing the first potential
treatment for Stargardt disease.
Through approximately $4.5M in federal grant funding, Alkeus has interacted with over 4,000
Stargardt patients and enrolled around 400 patients in clinical trials across 20 states. Remarkably,
the youngest child treated was just 8 years old, and the longest treatment duration was 7 years.
Their groundbreaking work has resulted in 11 scientific and medical peer-reviewed publications,
and they have attracted over $150M in private funding invested in Stargardt research. Dr. Saad’s
insights underscored the vital role of federal funding in fostering innovation and hope for those
affected by these debilitating diseases.
The briefing also featured heartfelt testimonies from patient advocates who bravely shared their
personal experiences living with these rare eye diseases. Their stories highlighted the daily
challenges they face and the profound impact that advancements in medical research could have
on their lives. One such advocate, Adriann Keve, recounted her journey with Stargardt disease,
describing the gradual loss of her central vision and the difficulties it imposed on her education
and career aspirations. “Research is our beacon of hope,” she emphasized. “With continued
funding, we can look forward to a future where treatments and cures are not just dreams but
realities.”
Similarly, Eric Fulton, diagnosed with RP at a young age, spoke about the emotional and physical
toll of the disease, which his late mother, brother, and now son have too. He passionately
advocated for increased investment in research, sharing how emerging therapies had given him
renewed hope. “Every dollar invested in research brings us closer to breakthroughs that can
change lives,” he offered.
The briefing concluded with a call to action from AEVR Executive Director, Dan Ignaszewski. He
urged policymakers to recognize the profound impact of vision research and to support increased
funding for the National Institutes of Health (NIH). “Investing in eye research is investing in the
future of millions of Americans affected by these debilitating diseases,” says Mr. Ignaszewski.
“With your support, we can turn the tide against blindness and improve the quality of life for
countless individuals.”
The full briefing is available for viewing by following this link.
