Gene therapy for RPE65-related retinal disease
| Autor: | Fares Antaki, Razek Georges Coussa, Virginia Miraldi Utz, Elias I. Traboulsi |
|---|---|
| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
cis-trans-Isomerases Pediatrics medicine.medical_specialty Genetic enhancement Genetic Vectors Leber Congenital Amaurosis Genetic Counseling Disease 03 medical and health sciences 0302 clinical medicine Informed consent parasitic diseases Retinitis pigmentosa medicine Humans Genetics (clinical) business.industry Patient Selection Genetic Therapy Dependovirus medicine.disease eye diseases Clinical trial Severe early childhood onset retinal dystrophy Ophthalmology 030104 developmental biology RPE65 Clinical Trials Phase III as Topic Pediatrics Perinatology and Child Health Mutation 030221 ophthalmology & optometry Etiology sense organs business |
| Zdroj: | Ophthalmic genetics. 39(6) |
| ISSN: | 1744-5094 |
| Popis: | Significant discoveries in the etiology and pathogenesis of inherited retinal diseases (IRDs) have been made in the last few decades. Of the large number genes that cause IRDs, bi-allelic mutations in RPE65 lead to Leber Congenital Amaurosis type 2 (LCA 2), and can also result in phenotypes described as severe early childhood onset retinal dystrophy (SECORD) and Retinitis pigmentosa 20 (RP20). Following the publication of the successful Phase-III clinical trials of gene augmentation surgery for RPE65-related IRDs with voretigene neparvovec, the FDA approved the commercial use of this pharmacologic agent in December 2017. In this perspective, ongoing and completed gene therapy trials for RPE65-related dystrophies are reviewed and challenges in patient selection, counseling and informed consent, as well as financial considerations of commercial treatment are discussed. |
| Databáze: | OpenAIRE |
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