BlueRock Therapeutics and Foundation Fighting Blindness collaborate to add new cohort to Uni-Rare study evaluating inherited retinal diseases


The new cohort will add patients living with IRDs caused by mutations in multiple genes to the already existing cohort of patients with IRDs caused by single gene mutations.

Image credit: AdobeStock/peshkova

(Image credit: AdobeStock/peshkova)

BlueRock Therapeutics LP and Foundation Fighting Blindness announced a collaboration to add a new cohort to the Foundation’s Uni-Rare natural history study. Previously, the Uni-Rare study only focused of those living with inherited retinal diseases (IRDs) cause by single gene mutations, but the new cohort will add patients living with IRDs caused by mutations in multiple genes.1

BlueRock stated it plans on using the information and data generated by the study to “support the identification and development of sensitive, reliable outcome measures for clinical trials and to enable the discovery and development of new therapies for treating IRDs.”

The Uni-Rare study was launched in 2022 and is led by José-Alain Sahel, MD, Distinguished Professor and Chairman of the Department of Ophthalmology at the University of Pittsburgh School of Medicine. The study looks at approximately 1,500 people with 1 of more than 300 rare genes associated with IRDs including retinitis pigmentosa, Leber congenital amaurosis, Usher syndrome, and a broad range of other conditions.1

“BlueRock is developing a pipeline of cell therapies that we believe has great potential for restoring vision in people living with blindness caused by retinal disease,” said Ahmed Enayetallah, Senior vice president and Head of Development for BlueRock Therapeutics in a press release from the company. “We are excited to be working with the team at the Foundation Fighting Blindness to expand their study which will help inform the design of future clinical trials as our ophthalmology pipeline advances.

In January, BlueRock announced it had exercised its option to exclusively license OpCT-001 from FUJIFILM Cellular Dynamics and Opsis Therapeutics. OpCT-001 is an induced pluripotent stem cell (iPSC) derived cell therapy candidate being explored for the treatment of Primary Photoreceptor disease, a subgroup of IRDs that include retinitis pigmentosa and cone-rod dystrophies.1

The Foundation Fighting Blindness was established in 1971 and is ”the world’s leading private funding source for retinal degenerative disease research.” The Uni-Rare Study is conducted by the Foundation’s Clinical Consortium, a global, 40-site network of clinical research centers. Patients with mutations in genes ABCA4, CEP290, CHM, CNGA3, CNGB3, EYS, GUCY2D, PCDH15, PROM1, RHO, RPE65, RPGR, USH2A, are excluded from the study as these genes have been part of other natural history studies or clinical trials.2

  1. Foundation Fighting Blindness announce collaboration to expand the Uni-Rare natural history study of patients living with inherited retinal diseases. Press release; March 25, 2024. Accessed March 25, 2024.
  2. Foundation Launching its Largest Natural History Study to Date for 1,500 People with Inherited Retinal Diseases Caused by Rare Mutated Genes. Press release; November 10, 2022. Accessed March 25, 2024.
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