RP is a genetically diverse disorder, such that gene-specific therapies are potentially effective in only a small fraction of patients with RP, thus limiting the use of conventional gene-specific therapeutic approaches. While metabolic imbalances and oxidative stress are thought to contribute to disease progression, there are currently no effective, broad-based treatments available for patients with genetic retinal degenerative disorders, including RP, glaucoma, autosomal dominant optic atrophy (ADOA), and age-related macular degeneration. This technology is a generally applicable gene therapy approach that restores metabolic dysregulation and treats retinal degenerative diseases regardless of genetic variation.
Over 250 genetic mutations that cause retinal degenerative disorders have been identified in the BEST1 gene. This technology is an AAV-mediated BEST1 gene therapy for the treatment of retinal degenerative disorders associated with Bestrophin-1 (BEST1) dominant mutations. Applications:
Gene therapy for retinal degenerative disorders caused by BEST1 dominant mutations.
Unmet Need: Targeted gene therapy against multiple retinal disorder mutations. CRB1 inherited retinal disorders affect 1 in 86,500 people in the United States, yet there are no approved treatments. This technology used vector-mediated targeted delivery of one or both of these isoforms to their cell-specific localizations to induce gene expression, and treat CRB1 related disorders.
The autosomal dominant forms of RP can be caused by a number of genetic mutations, but are most commonly caused by hereditary mutations in the rhodopsin (RHO) gene. Treatment for other diseases cause by autosomal dominant genetic mutations. Gene editing is not mutation-specific allowing for treatment of multiple genetic variants.