The Foundation Fighting Blindness, the world’s leading organization committed to finding treatments and cures for blinding retinal diseases, is committing at least $8.6 million for its Uni-Rare Study, a new natural history study for approximately 1,500 people with one of more than 300 rare genes associated with inherited retinal diseases (IRDs) including: retinitis pigmentosa, Leber congenital amaurosis, Usher syndrome, and a broad range of other conditions.
The study, due to begin recruitment in December, will help clinical researchers gain a better understanding of the course of retinal degeneration and vision loss for people with mutated genes that have not been well-characterized in the clinic. The study will also help the IRD research and therapeutic development community: 1) identify more people for clinical trials of therapies, 2) inform design of clinical trials, and 3) identify therapeutic targets for more people.
“A majority of the 300 genes linked to inherited retinal diseases have not been well characterized in the clinic. That is, we do not have a good understanding of retinal degeneration and disease progression for those affected by these mutated genes,” says Todd Durham, PhD, senior vice president, clinical development, at the Foundation Fighting Blindness. “We are excited to launch a highly inclusive study to benefit a large segment of the population affected by IRDs, which are so genetically diverse.”
“We are at a promising juncture in the clinical development of genetic therapies for inherited retinal diseases,” says José-Alain Sahel, MD, distinguished professor and chairman of the department of ophthalmology at the University of Pittsburgh School of Medicine and Uni-Rare Study chair. “With dozens of emerging treatments in, or moving toward, clinical trials, the Uni-Rare Study will be invaluable in defining and validating outcome measures for clinical trials and establishing the infrastructure for multicenter studies. The Foundation Fighting Blindness, with its strong presence and relationships in the global IRD research community, is the ideal partner to lead the effort.”
The two-part Uni-Rare Study will be conducted by the Foundation’s Clinical Consortium, a global, 40-site network of clinical research centers equipped with the experts and resources needed to launch IRD clinical trials and natural history studies. The Jaeb Center for Health Research will serve as the coordinating center.
In the first part of the study, all participants will have an initial evaluation to collect their genetic data and clinical measures. When the study is initiated, study participants whose IRD is caused by variants in the RDH12 and MYO7A genes may qualify for the second part of the study, which involves collecting clinical measures for an additional four years. Additional gene cohorts for this part of the study are expected to be added in the future.
The Foundation has received support for the study from families affected by Usher syndrome type 1B, Save Sight Now, Opus Genetics, Atsena Therapeutics, and Cove Therapeutics and is seeking additional support to add further gene cohorts to the second part of the study.
“Opus is pleased to be an early supporter of this first-of-its-kind in ophthalmology initiative to understand natural histories around rare diseases of the retina in order to accelerate research and therapeutic development for these blinding conditions,” said Jennifer Hunt, chief development officer at Opus Genetics.
“Atsena Therapeutics is pleased to support the Uni-Rare natural history study and the inherited retinal disease community as we continue advancing the preclinical development of our dual AAV vector-based gene therapy to prevent blindness from USH1B,” said Kenji Fujita, MD, chief medical officer at Atsena Therapeutics.
“We are proud to sponsor such a robust interrogation of natural history that will be used to inform future clinical development plans and improve patient outcomes; these data will be fundamental for our understanding of several diseases and will serve to accelerate the development of Cove’s non-viral gene therapies,” said Niren Shah, PharmD, MBA, CEO and co-founder of Cove Therapeutics.
IRD patients and physicians with IRD patients can get more information at clinicaltrials.gov.
Patients with IRDs caused by mutations in the following genes are not eligible for the study: ABCA4, CEP290, CHM, CNGA3, CNGB3, EYS, GUCY2D, PCDH15, PROM1, RHO, RPE65, RPGR, USH2A. These genes are or have been part of other natural history studies or clinical trials.
SOURCE: Foundation Fighting Blindness
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