Page 86 - GPD-4-2
P. 86

Gene & Protein in Disease                                 Alport syndrome: Genetics, variability, and management



            53.  Study Details - Study of Hydroxychloroquine in Patients With   Nephrol. 2022;17(12):1713.
               X-linked Alport Syndrome in China (CHXLAS). Available      doi: 10.2215/CJN.12491022
               from: https://clinicaltrials.gov/study/NCT04937907 [Last
               accessed on 2024 Dec 14].                       57.  Yamamura T, Horinouchi T, Adachi T, et al. Development
                                                                  of an exon skipping therapy for X-linked Alport syndrome
            54.  Warady BA, Pergola PE, Agarwal R,  et al. Effects of   with truncating variants in COL4A5.  Nat Commun.
               bardoxolone  methyl  in  alport  syndrome.  Clin J Am Soc
               Nephrol. 2022;17(12):1763-1774.                    2020;11(1):2777.
                                                                  doi: 10.1038/S41467-020-16605-X
               doi: 10.2215/CJN.02400222/-/DCSUPPLEMENTAL
                                                               58.  Cox DBT, Platt RJ, Zhang F. Therapeutic genome editing:
            55.  Chertow GM, Appel GB, Andreoli S, et al. Study design and
               baseline characteristics of the CARDINAL trial: A  phase   Prospects and challenges. Nat Med. 2015;21(2):121-131.
               3 study of bardoxolone methyl in patients with alport      doi: 10.1038/NM.3793
               syndrome. Am J Nephrol. 2021;52(3):180-189.
                                                               59.  Daga S, Donati F, Capitani K,  et al. New frontiers to cure
               doi: 10.1159/000513777                             Alport syndrome: COL4A3 and COL4A5 gene editing in
                                                                  podocyte-lineage cells. Eur J Hum Genet. 2020;28(4):480-490.
            56.  Quinlan C, Jayasinghe K. Bardoxolone methyl for alport
               syndrome: Opportunities and challenges.  Clin J Am Soc      doi: 10.1038/S41431-019-0537-8

























































            Volume 4 Issue 2 (2025)                         12                              doi: 10.36922/gpd.7656
   81   82   83   84   85   86   87   88   89   90   91