Choroideremia gene therapy
Ref : https://clinicaltrials.gov/study/NCT03584165
NAC attack medication
Ref: https://www.hopkinsmedicine.org/wilmer/research/nac-attack
RPGR gene therapy for Retinitis pigmentosa:
Ref: https://beacontxhcp.com/wp-content/uploads/2022/03/Scenic_Interim-Brochure_LowRes_R4.pdf
Ref: https://www.thelancet.com/journals/lancet/article/PIIS0140-6736(14)60153-7/abstract
Ref: https://pubmed.ncbi.nlm.nih.gov/38709228/
Pierce EA, Aleman TS, Jayasundera KT, Ashimatey BS, Kim K, Rashid A, Jaskolka MC, Myers RL, Lam BL, Bailey ST, Comander JI, Lauer AK, Maguire AM, Pennesi ME. Gene Editing for CEP290-Associated Retinal Degeneration. N Engl J Med. 2024 Jun 6;390(21):1972-1984. doi: 10.1056/NEJMoa2309915. Epub 2024 May 6. PMID: 38709228; PMCID: PMC11389875.
Ref: https://pubmed.ncbi.nlm.nih.gov/33595255/
Leroy BP, Birch DG, Duncan JL, Lam BL, Koenekoop RK, Porto FBO, Russell SR, Girach A. LEBER CONGENITAL AMAUROSIS DUE TO CEP290 MUTATIONS-SEVERE VISION IMPAIRMENT WITH A HIGH UNMET MEDICAL NEED: A Review. Retina. 2021 May 1;41(5):898-907. doi: 10.1097/IAE.0000000000003133. PMID: 33595255; PMCID: PMC8078118.
Ref: https://pubmed.ncbi.nlm.nih.gov/28712537/
Russell S, Bennett J, Wellman JA, Chung DC, Yu ZF, Tillman A, Wittes J, Pappas J, Elci O, McCague S, Cross D, Marshall KA, Walshire J, Kehoe TL, Reichert H, Davis M, Raffini L, George LA, Hudson FP, Dingfield L, Zhu X, Haller JA, Sohn EH, Mahajan VB, Pfeifer W, Weckmann M, Johnson C, Gewaily D, Drack A, Stone E, Wachtel K, Simonelli F, Leroy BP, Wright JF, High KA, Maguire AM. Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65-mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial. Lancet. 2017 Aug 26;390(10097):849-860. doi: 10.1016/S0140-6736(17)31868-8. Epub 2017 Jul 14. Erratum in: Lancet. 2017 Aug 26;390(10097):848. doi: 10.1016/S0140-6736(17)32235-3. PMID: 28712537; PMCID: PMC5726391.
Ref : https://pubmed.ncbi.nlm.nih.gov/21268677/
Koenekoop RK, Sui R, Sallum J, van den Born LI, Ajlan R, Khan A, den Hollander AI, Cremers FP, Mendola JD, Bittner AK, Dagnelie G, Schuchard RA, Saperstein DA. Oral 9-cis retinoid for childhood blindness due to Leber congenital amaurosis caused by RPE65 or LRAT mutations: an open-label phase 1b trial. Lancet. 2014 Oct 25;384(9953):1513-20. doi: 10.1016/S0140-6736(14)60153-7. Epub 2014 Jul 13. PMID: 25030840.
