Ophthotech announced that the company has converted its option and entered into an exclusive global license agreement with the University of Pennsylvania, including the Perelman School of Medicine at the University of Pennsylvania and the University of Pennsylvania School of Veterinary Medicine, and the University of Florida Research Foundation (UFRF), for rights to develop and commercialize novel adeno-associated virus (AAV) gene therapy product candidates for the treatment of Best vitelliform macular dystrophy, also known as Best disease, and other bestrophinopathies, which are diseases related to mutations to the BEST1 gene, according to a company news release.
Best disease, which generally affects individuals in both eyes, is an orphan inherited retinal disease. In October 2018, Ophthotech entered into an exclusive option agreement with Penn and UFRF for rights to negotiate to acquire a license for novel AAV serotype 2 based gene therapy product candidates for the treatment of Best disease. Since that time, Ophthotech has sponsored research at Penn, facilitated by the Penn Center for Innovation (PCI), to conduct preclinical and natural history studies for Best disease and commenced IND-enabling activities. Based on current timelines and subject to regulatory review, the company expects to initiate a Phase 1/2 clinical trial in the first half of 2021.
Ophthotech estimates that approximately 10,000 individuals in the United States and the five major European markets on a combined basis have Best disease. Patients with Best disease develop an egg yolk-like vitelliform lesion in their macular region, which over time leads to macular atrophy and permanent loss of central vision. There is currently no FDA or EMA approved therapy to treat this orphan inherited degenerative retinal disease.
Proof-of-concept studies demonstrating that the AAV-BEST1 gene therapy product candidate restored the anatomy between photoreceptors and retinal pigment epithelial (RPE) cells in the naturally occurring canine disease model with distinct phenotypic similarities to human bestrophinopathies were published in March 2018 in the journal Proceedings of the National Academy of Sciences (PNAS), titled: “BEST1 gene therapy corrects a diffuse retina-wide microdetachment modulated by light exposure.”