Opus Genetics Inc., a private ocular gene therapy company based in Raleigh, North Carolina, has announced its “first-in-patient” in a Phase 1/2 clinical trial for “OPGx-001” for the treatment of LCA5 retinal disease. This is the first-in-human clinical trial (NCT05616793) of OPGx-001 in patients with Leber congenital amaurosis (LCA) resulting from biallelic mutations in the LCA5 gene (LCA5). The Phase 1/2, open-label, dose-escalation trial will evaluate the subretinal delivery of OPGx-001 in nine adult patients with LCA5. The objective of the trial is to evaluate safety and potential benefit.
Previously defined as a juvenile form of RP (retinitis pigmentosa), LCA is a severe congenital or early infant-onset form of non-syndromic retinal disease, characterised by severe retinal dystrophy, vision loss, nystagmus, an absence of a normal pupil response and an almost non-recordable ERG. The clinical diagnosis does not have a well agreed-upon definition and therefore a more recent structure for nomenclature, aiming to define the basis as being on genotype, rather than phenotype. To date, there are now 25 genes causative for LCA, one of which, Lebercilin (LCA5), now accounts ~ 2% of LCA cases and results in a particularly severe form of the disease. The LCA5 gene located in chromosome 6q14.1 encodes an 80 kDa protein expressed in the connecting cilium of photoreceptors.