O Primeiro Tratamento com Luxturna em Portugal: Um Pequeno Passo para a Ciência Mundial, um Salto Gigante para a Oftalmologia Portuguesa

Zhang WW, Li L, Li D, Liu J, Li X, Li W, et al. The First Approved Gene Therapy Product for Cancer Ad-p53 (Gendicine): 12 Years in the Clinic. Hum Gene Ther. 2018;29:160-79. doi: 10.1089/hum.2017.218.

Maguire AM, Bennett J, Aleman EM, Leroy BP, Aleman TS. Clinical Perspective: Treating RPE65-Associated Retinal Dystrophy. Mol Ther. 2021 Feb 3;29(2):442-463. doi: 10.1016/j.ymthe.2020.11.029.

Maguire AM, Russell S, Wellman JA, Chung DC, Yu ZF, Tillman A, et al. Efficacy, Safety, and Durability of Voretigene Neparvovec-rzyl in RPE65 Mutation-Associated Inherited Retinal Dystrophy: Results of Phase 1 and 3 Trials. Ophthalmology. 2019;126:1273-85. doi: 10.1016/j.ophtha.2019.06.017.

Johnson S, Buessing M, O'Connell T, Pitluck S, Ciulla TA. Cost-effectiveness of Voretigene Neparvovec-rzyl vs Standard Care for RPE65-Mediated Inherited Retinal Disease. JAMA Ophthalmol. 2019;137:1115-23. doi: 10.1001/jamaophthalmol.2019.2512.

Uhrmann MF, Lorenz B, Gissel C. Cost Effectiveness of Voretigene Neparvovec for RPE65-Mediated Inherited Retinal Degeneration in Germany. Transl Vis Sci Technol. 2020;9:17. doi: 10.1167/tvst.9.9.17.

Viriato D, Bennett N, Sidhu R, Hancock E, Lomax H, Trueman D, MacLaren RE. An Economic Evaluation of Voretigene Neparvovec for the Treatment of Biallelic RPE65-Mediated Inherited Retinal Dystrophies in the UK. Adv Ther. 2020;37:1233-47. doi: 10.1007/s12325-020-01243-y.

Zimmermann M, Lubinga SJ, Banken R, Rind D, Cramer G, Synnott PG, Chapman RH, Khan S, Carlson J. Cost Utility of Voretigene Neparvovec for Biallelic RPE65-Mediated Inherited Retinal Disease. Value Health. 2019;22:161-7. doi: 10.1016/j.jval.2018.09.2841.

Redmond TM, Yu S, Lee E, Bok D, Hamasaki D, Chen N, et al. Rpe65 is necessary for production of 11-cis-vitamin A in the retinal visual cycle. Nat Genet. 1998;20:344-51. doi: 10.1038/3813.

Lorenz B, Tavares J, van den Born LI, Marques JP, Scholl HPN; EVICR.net Group. Current management of patients with RPE65 mutation-associated inherited retinal degenerations (IRDs) in Europe. Results of a multinational survey by the European Vision Institute Clinical Research Network EVICR.net. Ophthalmic Res. 2021 (in press). doi: 10.1159/000515688.

Galvin O, Chi G, Brady L, Hippert C, Del Valle Rubido M, Daly A, et al. The Impact of Inherited Retinal Diseases in the Republic of Ireland (ROI) and the United Kingdom (UK) from a Cost-of-Illness Perspective. Clin Ophthalmol. 2020;14:707-19. doi: 10.2147/OPTH.S241928.

Pontikos N, Arno G, Jurkute N, Schiff E, Ba-Abbad R, Malka S, et al. Genetic Basis of Inherited Retinal Disease in a Molecularly Characterized Cohort of More Than 3000 Families from the United Kingdom. Ophthalmology. 2020;127:1384-94. doi: 10.1016/j.ophtha.2020.04.008.

Chung DC, Bertelsen M, Lorenz B, Pennesi ME, Leroy BP, Hamel CP, et al. The Natural History of Inherited Retinal Dystrophy Due to Biallelic Mutations in the RPE65 Gene. Am J Ophthalmol. 2019;199:58-70. doi: 10.1016/j.ajo.2018.09.024.

Pierrache LH, Ghafaryasl B, Khan MI, Yzer S, van Genderen MM, Schuil J, et al. Longitudinal Study of Rpe65-Associated Inherited Retinal Degenerations. Retina. 2020;40:1812-28. doi: 10.1097/IAE.0000000000002681.

Marques JP, Pires J, Costa J, Murta J, Silva R. Inherited Retinal Degenerations in Portugal: Addressing the Unmet Needs. Acta Med Port. 2021 (in press). doi: 10.20344/amp.15802.

Thompson DA, Ali RR, Banin E, Branham KE, Flannery JG, Gamm DM, et al; Monaciano Consortium. Advancing therapeutic strategies for inherited retinal degeneration: recommendations from the Monaciano Symposium. Invest Ophthalmol Vis Sci. 2015;56:918-31. doi: 10.1167/iovs.14-16049.

Marques JP, Carvalho AL, Henriques J, Murta JN, Saraiva J, Silva R. Design, development and deployment of a web-based interoperable registry for inherited retinal dystrophies in Portugal: the IRD-PT. Orphanet J Rare Dis. 2020;15:304. doi: 10.1186/s13023-020-01591-6.