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• W254705429 abstract "Stargardt disease is the most common among recessively inherited macular dystrophies, with 600 new disease cases diagnosed every year. It is caused by mutations in ABCA4, a photoreceptor-bound gene involved in normal visual cycle kinetics. The resulting disease phenotype, with accumulation of lipofuscin and other by-products in the retinal pigmented epithelium, is also recognized in the abca4 mouse model of the disease. Currently, Stargardt remains an incurable condition and there is little that can be done to improve the visual function of these patients. However, recent developments in ocular gene therapy will likely change this scenario. In the past decade, extensive research has been done in gene therapy for another form of retinal degeneration, Leber Congenital Amaurosis (LCA) associated with mutations in the RPE65 gene. Successful and sustainable rescue of vision in several animal models and human patients with RPE65-LCA, using AAV-mediated RPE65 gene replacement therapy, has led to the natural and rather easy application of the concept to Stargardt disease, and in fact, an ABCA4-based gene replacement trial is expected to enter Phase I/II development during 2010. If proven successful, this trial will provide unprecedented treatment possibilities for Stargardt disease and spectrum of retinal phenotypes associated with ABCA4 variation.; A doenca de Stargardt e a mais comum das distrofias maculares autossomicas recessivas, com cerca de 600 novos casos de doenca diagnosticados por ano. E causada por mutacoes no ABCA4, um gene presente nos fotoreceptores retinianos e que esta envolvido na cinetica normal do ciclo da visao. O fenotipo resultante, com acumulacao de lipofuscina e outros toxicos no epitelio pigmentado da retina, e tambem reconhecido no modelo animal da doenca, o rato abca4. Actualmente, a doenca de Stargardt permanece incuravel e ha muito pouco que podemos fazer pelos doentes que dela padecem. Porem, avancos recentes no campo da terapia genica aplicada as doencas oculares irao certamente modificar esse cenario. Durante a ultima decada, foi extensamente desenvolvida a terapia genica aplicada a uma outra forma de degenerescencia da retina, a Amaurose Congenita de Leber associada a mutacoes no gene RPE65. A restituicao duradoira e bem sucedida da visao, atraves da substituicao genetica do RPE65 por intermedio de vectores AAV em modelos animais e doentes com Amaurose Congenita de Leber, levou a natural e facil extrapolacao do conceito para a doenca de Stargardt e, como tal, espera-se que, durante 2010, um ensaio clinico, visando a substituicao genetica do gene ABCA4, atinja a fase I/II de desenvolvimento. Ao provar-se bem sucedido, este ensaio clinico possibilitara oportunidades terapeuticas pioneiras para a doenca de Stargardt e todo o espectro de fenotipos retinianos associados ao gene ABCA4." @default.
• W254705429 created "2016-06-24" @default.
• W254705429 creator A5087236393 @default.
• W254705429 date "2010-01-01" @default.
• W254705429 modified "2023-09-27" @default.
• W254705429 title "Gene therapy for Stargardt and other ABCA4-related diseases: lessons from RPE65-LCA trials" @default.
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