New cohort, supported by funding from the Richard King Mellon Foundation, will study individuals with inherited retinal disease caused by mutations in the FAM161A gene to inform future clinical trials.
, /PRNewswire/ — The Foundation Fighting Blindness, the driving force in the global development of treatments and cures for blinding diseases, today announced a new partnership with the Eye & Ear Foundation of Pittsburgh to add a prospective 4-year cohort for individuals with inherited retinal diseases (IRDs) caused by mutations in the FAM161A gene to the Foundation’s Uni-Rare Natural History Study.
The Foundation Fighting Blindness and the Eye & Ear Foundation of Pittsburgh, which supports the Departments of Ophthalmology and Otolaryngology-Head & Neck Surgery at the University of Pittsburgh, developed the new cohort in partnership with José-Alain Sahel, MD (Distinguished Professor and Chairman of the University of Pittsburgh Department of Ophthalmology, Vice Chair of the Foundation’s Scientific Advisory Board and a Gund Vision Fund board member), as part of Rare Ventures™, a first-of-its-kind venture philanthropy platform dedicated to accelerating the development of therapies and cures for rare diseases. Rare Ventures™, a Pittsburgh-based organization, launched in August of 2026 with funding from the Richard King Mellon Foundation.
“We’re excited to add a FAM161A cohort to our Uni-Rare Study through this partnership with the Eye & Ear Foundation of Pittsburgh,” said Todd Durham, PhD, Senior Vice President, Clinical and Outcomes Research at the Foundation Fighting Blindness. “FAM161A is a well-established genetic cause of retinitis pigmentosa, yet we still lack robust natural history data on how the disease progresses. This cohort will help us and the broader research community characterize that progression, so that clinical trials for emerging FAM161A-targeted therapies are built on the right endpoints, the right participants, and realistic length of follow-up.”
Mutations in FAM161A are a well-established cause of autosomal recessive retinitis pigmentosa (RP), a form of inherited retinal disease that leads to progressive vision loss.
Mutations in the gene are estimated to underlie ~1-2% of cases of autosomal recessive RP in North America, and as much as 12% of autosomal recessive RP cases in some regions in the Middle East. Despite growing interest in the gene as a target for future therapies, longitudinal data on disease progression in affected patients remain limited. The new cohort is designed to follow participants for four years to understand the natural course of FAM161A-associated retinal degeneration and spur further therapeutic development in this field.
“Understanding how FAM161A-related retinitis pigmentosa progresses over time is essential as more potential therapies move toward the clinic,” said José-Alain Sahel, MD, Distinguished Professor and Chairman of the Department of Ophthalmology at the University of Pittsburgh School of Medicine. “Through this collaboration, along with support from the Richard King Mellon Foundation, we can help build the natural history data needed to design better clinical trials and, ultimately, get treatments to patients faster. This is timely as the work led by Eyal Banin, Dror Sharon in Jerusalem and Yvan Arsenevic in Lausanne has provided promising preclinical proof of concept.”
The FAM161A cohort joins the Foundation’s broader Uni-Rare Study, a natural history study for people affected by one of more than 300 rare genes associated with IRDs, including retinitis pigmentosa, Leber congenital amaurosis, Usher syndrome, and other conditions, conducted through a global network of clinical research centers coordinated by the Jaeb Center for Health Research. More than 850 individuals affected by IRDs have been enrolled in Uni-Rare to date.
Rare Ventures was built on the belief that accelerating treatments for rare diseases requires more than funding individual research projects. It requires a coordinated approach that connects scientific discovery, patient data, and the resources needed to advance therapeutic development. This partnership is a powerful early example of that model in action, bringing together exceptional partners to strengthen the foundation for clinical research and accelerate progress for the rare disease community,” said Michael Hund, Founder and CEO of Rare Ventures.
Patients with FAM161A-associated retinal disease and their physicians can learn more about eligibility and enrollment for the Uni-Rare Study at ClinicalTrials.gov (NCT05589714) or by visiting FightingBlindness.org.
About the Foundation Fighting Blindness
Established in 1971, the Foundation Fighting Blindness is the driving force in the global development of treatments and cures for blinding diseases. The Foundation has raised nearly $1 billion toward its mission of accelerating research that will provide preventions, treatments, and cures for people affected by retinitis pigmentosa, Usher syndrome, Stargardt disease, Leber congenital amaurosis, age-related macular degeneration, and the spectrum of retinal degenerative diseases. Visit FightingBlindness.org for more information.
About the Eye & Ear Foundation of Pittsburgh
The Eye & Ear Foundation (EEF) is a public, non-profit organization that supports the Departments of Ophthalmology and Otolaryngology at the University of Pittsburgh School of Medicine. Its mission is to advance cutting-edge academic and research efforts with the ultimate goal of enhancing patient care. Visit eyeandear.org for more information.
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SOURCE Foundation Fighting Blindness
