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Ocugen Inc., (NASDAQ: OCGN) has announced the launch of a Phase 1/2 study for a modifier gene therapy candidate treating retinitis pigmentosa (RP)

Ocugen Inc., (NASDAQ:OCGN), an ophthalmic biopharmaceutical company based in Malvern, Pennsylvania, has announced that the first patient has been dosed in a Phase 1/2 clinical trial of “OCU400”, a modifier gene therapy candidate for the treatment of retinitis pigmentosa (RP) resulting from mutations in the nuclear receptor subfamily 2 group E member 3 (NR2E3) and Rhodopsin (RHO) genes.  NR2E3 is a part of a large family of nuclear receptor transcription factors involved in signalling pathways, regulating pathways in embryonic development and in maintenance of proper cell function in adults. The NR2E3 gene encodes a retinal nuclear receptor that is a ligand-dependent transcription factor and defects in this gene are a cause of enhanced S cone syndrome.


The Phase 1/2 study will aim to use a “modifier gene therapy platform” where the delivery and expression of one or more nuclear hormone receptor genes (NHRs) in the disease tissues “plays a vital role in regulating retinal cell progression, maturation, metabolism, visual cycle function, survival, and maintaining the cellular and molecular homeostasis in retinal tissues”.  The proposed study is registered in with a trial identifier number of NCT05203939 and the study is designed to evaluate the safety of ascending doses of OCU400 in subjects with retinitis pigmentosa associated with NR2E3 and RHO mutations.  The trial is to recruit 18 participants in an open label non-randomized interventional design with the expectation to collect preliminary data by April 2023. While the primary outcomes are listed as standard safety measures, the secondary outcome measures include BCVA, low-luminance visual acuity (LLVA), slit-lamp bio-microscopy, IOP, anti-AAV5 assessment, anti-hNR2E3 antibody analyses, multi-luminance mobility testing (MLMT), Full Field Light Stimulation Threshold (FST), contrast sensitivity and Vision on Quality of Life analyses.


Commenting on the milestone, David Birch, PhD, Scientific Director at the Rose-Silverthorne Retinal Degenerations Laboratory stated that, “our premise is that disease progression can be halted at whatever stage patients are currently at, potentially preventing further vision loss. This Phase 1/2 clinical trial targets people who have RP resulting from mutations in the NR2E3 and RHO genes. Based on the safety and efficacy outcomes, this study may be expanded to include additional genetic mutations in a Phase 3 study designed to demonstrate broad therapeutic applications of OCU400 in people with RP and Leber congenital amaurosis. If approved, we believe OCU400 may ultimately impact the lives of people facing retinitis pigmentosa and other retinal diseases rooted in the mutations of more than 175 genes.”