{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T12:41:09Z","timestamp":1792586469607,"version":"4.5.0"},"reference-count":130,"publisher":"Springer Science and Business Media LLC","issue":"10","license":[{"start":{"date-parts":[[2024,8,8]],"date-time":"2024-08-08T00:00:00Z","timestamp":1723075200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0"},{"start":{"date-parts":[[2024,8,8]],"date-time":"2024-08-08T00:00:00Z","timestamp":1723075200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0"}],"funder":[{"DOI":"10.13039\/100002108","name":"Friedreich's Ataxia Research Alliance","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100002108","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001782","name":"University of Melbourne","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100001782","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["CNS Drugs"],"published-print":{"date-parts":[[2024,10]]},"DOI":"10.1007\/s40263-024-01113-z","type":"journal-article","created":{"date-parts":[[2024,8,8]],"date-time":"2024-08-08T11:02:23Z","timestamp":1723114943000},"page":"791-805","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":23,"title":["New and Emerging Drug and Gene Therapies for Friedreich Ataxia"],"prefix":"10.1007","volume":"38","author":[{"given":"Varlli","family":"Scott","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin B.","family":"Delatycki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Geneieve","family":"Tai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8767-4582","authenticated-orcid":false,"given":"Louise A.","family":"Corben","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,8,8]]},"reference":[{"issue":"14","key":"1113_CR1","doi-asserted-by":"publisher","first-page":"7452","DOI":"10.1073\/pnas.94.14.7452","volume":"94","author":"M Coss\u00e9e","year":"1997","unstructured":"Coss\u00e9e M, et al. Evolution of the Friedreich\u2019s ataxia trinucleotide repeat expansion: founder effect and premutations. Proc Natl Acad Sci USA. 1997;94(14):7452\u20137.","journal-title":"Proc Natl Acad Sci USA"},{"issue":"12","key":"1113_CR2","doi-asserted-by":"publisher","first-page":"2322","DOI":"10.1212\/WNL.54.12.2322","volume":"54","author":"M Labuda","year":"2000","unstructured":"Labuda M, et al. Unique origin and specific ethnic distribution of the Friedreich ataxia GAA expansion. Neurology. 2000;54(12):2322\u20134.","journal-title":"Neurology"},{"key":"1113_CR3","first-page":"291","volume":"26","author":"N Friedreich","year":"1863","unstructured":"Friedreich N. Uber degenerative Atrophie der spinalen Hinterstrange. Virchow\u2019s Archiv Pathological Anatomy. 1863;26:291\u2013419.","journal-title":"Virchow's Archiv Pathological Anatomy"},{"issue":"5254","key":"1113_CR4","doi-asserted-by":"publisher","first-page":"1423","DOI":"10.1126\/science.271.5254.1423","volume":"271","author":"V Campuzano","year":"1996","unstructured":"Campuzano V, et al. Friedreich\u2019s ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science. 1996;271(5254):1423\u20137.","journal-title":"Science"},{"issue":"9","key":"1113_CR5","doi-asserted-by":"publisher","first-page":"1133","DOI":"10.1177\/0883073812448230","volume":"27","author":"MB Delatycki","year":"2012","unstructured":"Delatycki MB, Corben LA. Clinical features of Friedreich ataxia. J Child Neurol. 2012;27(9):1133\u20137.","journal-title":"J Child Neurol"},{"issue":"5","key":"1113_CR6","doi-asserted-by":"publisher","first-page":"267","DOI":"10.2217\/nmt-2022-0011","volume":"12","author":"M Keita","year":"2022","unstructured":"Keita M, et al. Friedreich ataxia: clinical features and new developments. Neurodegener Dis Manag. 2022;12(5):267\u201383.","journal-title":"Neurodegener Dis Manag"},{"key":"1113_CR7","doi-asserted-by":"publisher","first-page":"6","DOI":"10.1186\/s40673-020-00115-z","volume":"7","author":"A Maudoux","year":"2020","unstructured":"Maudoux A, et al. Vestibular impact of Friedreich ataxia in early onset patients. Cerebellum Ataxias. 2020;7:6.","journal-title":"Cerebellum Ataxias"},{"key":"1113_CR8","doi-asserted-by":"publisher","first-page":"33","DOI":"10.1186\/s42466-019-0038-9","volume":"1","author":"K Reetz","year":"2019","unstructured":"Reetz K, et al. Protocol of a randomized, double-blind, placebo-controlled, parallel-group, multicentre study of the efficacy and safety of nicotinamide in patients with Friedreich ataxia (NICOFA). Neurol Res Pract. 2019;1:33.","journal-title":"Neurol Res Pract"},{"key":"1113_CR9","doi-asserted-by":"publisher","DOI":"10.1016\/j.eclinm.2019.11.006","volume":"18","author":"C Rummey","year":"2020","unstructured":"Rummey C, Farmer JM, Lynch DR. Predictors of loss of ambulation in Friedreich\u2019s ataxia. EClinicalMedicine. 2020;18: 100213.","journal-title":"EClinicalMedicine"},{"issue":"14","key":"1113_CR10","doi-asserted-by":"publisher","first-page":"e1499","DOI":"10.1212\/WNL.0000000000200913","volume":"99","author":"C Rummey","year":"2022","unstructured":"Rummey C, et al. Natural history of Friedreich Ataxia: heterogeneity of neurologic progression and consequences for clinical trial design. Neurology. 2022;99(14):e1499\u2013510.","journal-title":"Neurology"},{"issue":"5","key":"1113_CR11","doi-asserted-by":"publisher","first-page":"362","DOI":"10.1016\/S1474-4422(21)00027-2","volume":"20","author":"K Reetz","year":"2021","unstructured":"Reetz K, et al. Progression characteristics of the European Friedreich\u2019s Ataxia Consortium for Translational Studies (EFACTS): a 4-year cohort study. Lancet Neurol. 2021;20(5):362\u201372.","journal-title":"Lancet Neurol"},{"issue":"3","key":"1113_CR12","doi-asserted-by":"publisher","first-page":"510","DOI":"10.1002\/mds.29687","volume":"39","author":"E Indelicato","year":"2024","unstructured":"Indelicato E, et al. Predictors of survival in Friedreich\u2019s Ataxia: a prospective cohort study. Mov Disord. 2024;39(3):510\u20138.","journal-title":"Mov Disord"},{"issue":"11","key":"1113_CR13","doi-asserted-by":"publisher","first-page":"1771","DOI":"10.1093\/hmg\/6.11.1771","volume":"6","author":"V Campuzano","year":"1997","unstructured":"Campuzano V, et al. Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes. Hum Mol Genet. 1997;6(11):1771\u201380.","journal-title":"Hum Mol Genet"},{"issue":"91","key":"1113_CR14","first-page":"25","volume":"17","author":"MV Evans-Galea","year":"2014","unstructured":"Evans-Galea MV, et al. Beyond loss of frataxin: the complex molecular pathology of Friedreich ataxia. Discov Med. 2014;17(91):25\u201335.","journal-title":"Discov Med"},{"issue":"2","key":"1113_CR15","doi-asserted-by":"publisher","first-page":"327","DOI":"10.1007\/s10072-010-0326-1","volume":"32","author":"T Boehm","year":"2011","unstructured":"Boehm T, et al. Variations of frataxin protein levels in normal individuals. Neurol Sci. 2011;32(2):327\u201330.","journal-title":"Neurol Sci"},{"issue":"1","key":"1113_CR16","doi-asserted-by":"publisher","first-page":"73","DOI":"10.1007\/s10048-019-00594-1","volume":"21","author":"A Candayan","year":"2020","unstructured":"Candayan A, et al. The first biallelic missense mutation in the FXN gene in a consanguineous Turkish family with Charcot-Marie-Tooth-like phenotype. Neurogenetics. 2020;21(1):73\u20138.","journal-title":"Neurogenetics"},{"key":"1113_CR17","doi-asserted-by":"publisher","DOI":"10.3389\/fmolb.2020.569293","volume":"7","author":"FM Smith","year":"2020","unstructured":"Smith FM, Kosman DJ. Molecular defects in Friedreich\u2019s Ataxia: convergence of oxidative stress and cytoskeletal abnormalities. Front Mol Biosci. 2020;7: 569293.","journal-title":"Front Mol Biosci"},{"key":"1113_CR18","doi-asserted-by":"publisher","DOI":"10.3389\/fnins.2022.838335","volume":"16","author":"B Monfort","year":"2022","unstructured":"Monfort B, et al. Recent advances in the elucidation of Frataxin biochemical function open novel perspectives for the treatment of Friedreich\u2019s Ataxia. Front Neurosci. 2022;16: 838335.","journal-title":"Front Neurosci"},{"issue":"6","key":"1113_CR19","doi-asserted-by":"publisher","first-page":"1493","DOI":"10.1016\/j.bbamcr.2014.09.009","volume":"1853","author":"N Maio","year":"2015","unstructured":"Maio N, Rouault TA. Iron-sulfur cluster biogenesis in mammalian cells: New insights into the molecular mechanisms of cluster delivery. Biochim Biophys Acta. 2015;1853(6):1493\u2013512.","journal-title":"Biochim Biophys Acta"},{"issue":"5","key":"1113_CR20","doi-asserted-by":"publisher","first-page":"651","DOI":"10.1089\/ars.2009.3015","volume":"13","author":"R Santos","year":"2010","unstructured":"Santos R, et al. Friedreich ataxia: molecular mechanisms, redox considerations, and therapeutic opportunities. Antioxid Redox Signal. 2010;13(5):651\u201390.","journal-title":"Antioxid Redox Signal"},{"issue":"R1","key":"1113_CR21","doi-asserted-by":"publisher","first-page":"R103","DOI":"10.1093\/hmg\/ddq165","volume":"19","author":"S Schmucker","year":"2010","unstructured":"Schmucker S, Puccio H. Understanding the molecular mechanisms of Friedreich\u2019s ataxia to develop therapeutic approaches. Hum Mol Genet. 2010;19(R1):R103\u201310.","journal-title":"Hum Mol Genet"},{"issue":"3","key":"1113_CR22","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0017627","volume":"6","author":"F Sacc\u00e0","year":"2011","unstructured":"Sacc\u00e0 F, et al. A combined nucleic acid and protein analysis in Friedreich ataxia: implications for diagnosis, pathogenesis and clinical trial design. PLoS ONE. 2011;6(3): e17627.","journal-title":"PLoS ONE"},{"issue":"1\u20132","key":"1113_CR23","doi-asserted-by":"publisher","first-page":"145","DOI":"10.1016\/j.jns.2005.03.012","volume":"233","author":"V Calabrese","year":"2005","unstructured":"Calabrese V, et al. Oxidative stress, mitochondrial dysfunction and cellular stress response in Friedreich\u2019s ataxia. J Neurol Sci. 2005;233(1\u20132):145\u201362.","journal-title":"J Neurol Sci"},{"issue":"12","key":"1113_CR24","doi-asserted-by":"publisher","first-page":"1267","DOI":"10.1016\/j.jacbts.2022.04.005","volume":"7","author":"RM Payne","year":"2022","unstructured":"Payne RM. Cardiovascular research in Friedreich Ataxia: unmet needs and opportunities. JACC Basic Transl Sci. 2022;7(12):1267\u201383.","journal-title":"JACC Basic Transl Sci"},{"issue":"4","key":"1113_CR25","doi-asserted-by":"publisher","first-page":"522","DOI":"10.1002\/ana.24249","volume":"76","author":"YK Chutake","year":"2014","unstructured":"Chutake YK, et al. Epigenetic promoter silencing in Friedreich ataxia is dependent on repeat length. Ann Neurol. 2014;76(4):522\u20138.","journal-title":"Ann Neurol"},{"issue":"2","key":"1113_CR26","doi-asserted-by":"publisher","first-page":"174","DOI":"10.1016\/S1474-4422(14)70321-7","volume":"14","author":"K Reetz","year":"2015","unstructured":"Reetz K, et al. Biological and clinical characteristics of the European Friedreich\u2019s Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline data. Lancet Neurol. 2015;14(2):174\u201382.","journal-title":"Lancet Neurol"},{"issue":"1","key":"1113_CR27","doi-asserted-by":"publisher","first-page":"75","DOI":"10.1034\/j.1600-0404.2003.00190.x","volume":"109","author":"I Mateo","year":"2004","unstructured":"Mateo I, et al. Expanded GAA repeats and clinical variation in Friedreich\u2019s ataxia. Acta Neurol Scand. 2004;109(1):75\u20138.","journal-title":"Acta Neurol Scand"},{"issue":"5","key":"1113_CR28","doi-asserted-by":"publisher","first-page":"675","DOI":"10.1002\/ana.410410518","volume":"41","author":"L Montermini","year":"1997","unstructured":"Montermini L, et al. Phenotypic variability in Friedreich ataxia: role of the associated GAA triplet repeat expansion. Ann Neurol. 1997;41(5):675\u201382.","journal-title":"Ann Neurol"},{"issue":"10","key":"1113_CR29","doi-asserted-by":"publisher","first-page":"1296","DOI":"10.1001\/archneur.65.10.1296","volume":"65","author":"M Pandolfo","year":"2008","unstructured":"Pandolfo M. Friedreich ataxia. Arch Neurol. 2008;65(10):1296\u2013303.","journal-title":"Arch Neurol"},{"issue":"5","key":"1113_CR30","doi-asserted-by":"publisher","first-page":"848","DOI":"10.1016\/j.yjmcc.2011.07.001","volume":"51","author":"M Kelly","year":"2011","unstructured":"Kelly M, et al. A polymorphic miR-155 binding site in AGTR1 is associated with cardiac hypertrophy in Friedreich ataxia. J Mol Cell Cardiol. 2011;51(5):848\u201354.","journal-title":"J Mol Cell Cardiol"},{"key":"1113_CR31","doi-asserted-by":"publisher","DOI":"10.3389\/fmolb.2022.933788","volume":"9","author":"LN Rodden","year":"2022","unstructured":"Rodden LN, et al. A non-synonymous single nucleotide polymorphism in SIRT6 predicts neurological severity in Friedreich ataxia. Front Mol Biosci. 2022;9: 933788.","journal-title":"Front Mol Biosci"},{"issue":"1","key":"1113_CR32","doi-asserted-by":"publisher","first-page":"62","DOI":"10.1002\/mds.26382","volume":"31","author":"C Lecocq","year":"2016","unstructured":"Lecocq C, et al. Delayed-onset Friedreich\u2019s ataxia revisited. Mov Disord. 2016;31(1):62\u20139.","journal-title":"Mov Disord"},{"issue":"12","key":"1113_CR33","doi-asserted-by":"publisher","first-page":"1865","DOI":"10.1001\/archneur.62.12.1865","volume":"62","author":"R Bhidayasiri","year":"2005","unstructured":"Bhidayasiri R, et al. Late-onset Friedreich ataxia: phenotypic analysis, magnetic resonance imaging findings, and review of the literature. Arch Neurol. 2005;62(12):1865\u20139.","journal-title":"Arch Neurol"},{"issue":"4","key":"1113_CR34","doi-asserted-by":"publisher","first-page":"349","DOI":"10.1001\/archneur.1994.00540160043007","volume":"51","author":"L Junck","year":"1994","unstructured":"Junck L, et al. Structural and functional brain imaging in Friedreich\u2019s ataxia. Arch Neurol. 1994;51(4):349\u201355.","journal-title":"Arch Neurol"},{"issue":"Suppl 1","key":"1113_CR35","doi-asserted-by":"publisher","first-page":"103","DOI":"10.1111\/jnc.12317","volume":"126","author":"MH Parkinson","year":"2013","unstructured":"Parkinson MH, et al. Clinical features of Friedreich\u2019s ataxia: classical and atypical phenotypes. J Neurochem. 2013;126(Suppl 1):103\u201317.","journal-title":"J Neurochem"},{"issue":"6","key":"1113_CR36","doi-asserted-by":"publisher","first-page":"763","DOI":"10.1007\/s00401-009-0589-x","volume":"118","author":"AH Koeppen","year":"2009","unstructured":"Koeppen AH, et al. The dorsal root ganglion in Friedreich\u2019s ataxia. Acta Neuropathol. 2009;118(6):763\u201376.","journal-title":"Acta Neuropathol"},{"issue":"1","key":"1113_CR37","doi-asserted-by":"publisher","first-page":"4","DOI":"10.31083\/j.jin2301004","volume":"23","author":"AH Koeppen","year":"2024","unstructured":"Koeppen AH. Tissue Iron in Friedreich Ataxia. J Integr Neurosci. 2024;23(1):4.","journal-title":"J Integr Neurosci"},{"issue":"23\u201324","key":"1113_CR38","doi-asserted-by":"publisher","first-page":"1226","DOI":"10.1089\/hum.2020.264","volume":"31","author":"IH Harding","year":"2020","unstructured":"Harding IH, et al. Central nervous system therapeutic targets in friedreich ataxia. Hum Gene Ther. 2020;31(23\u201324):1226\u201336.","journal-title":"Hum Gene Ther"},{"issue":"1","key":"1113_CR39","doi-asserted-by":"publisher","first-page":"46","DOI":"10.1186\/s40478-016-0288-5","volume":"4","author":"AH Koeppen","year":"2016","unstructured":"Koeppen AH, et al. Dorsal root ganglia in Friedreich ataxia: satellite cell proliferation and inflammation. Acta Neuropathol Commun. 2016;4(1):46.","journal-title":"Acta Neuropathol Commun"},{"issue":"1","key":"1113_CR40","doi-asserted-by":"publisher","first-page":"45","DOI":"10.1002\/mds.29261","volume":"38","author":"TJR Rezende","year":"2023","unstructured":"Rezende TJR, et al. Progressive spinal cord degeneration in Friedreich\u2019s Ataxia: results from ENIGMA-Ataxia. Mov Disord. 2023;38(1):45\u201356.","journal-title":"Mov Disord"},{"issue":"2","key":"1113_CR41","doi-asserted-by":"publisher","first-page":"166","DOI":"10.1097\/NEN.0000000000000160","volume":"74","author":"AH Koeppen","year":"2015","unstructured":"Koeppen AH, et al. Friedreich ataxia: failure of GABA-ergic and glycinergic synaptic transmission in the dentate nucleus. J Neuropathol Exp Neurol. 2015;74(2):166\u201376.","journal-title":"J Neuropathol Exp Neurol"},{"key":"1113_CR42","doi-asserted-by":"crossref","unstructured":"Apolloni, S., M. Milani, and N. D'Ambrosi, Neuroinflammation in Friedreich's Ataxia. Int J Mol Sci, 2022. 23(11).","DOI":"10.3390\/ijms23116297"},{"key":"1113_CR43","doi-asserted-by":"publisher","DOI":"10.1016\/j.nbd.2019.104606","volume":"132","author":"MB Delatycki","year":"2019","unstructured":"Delatycki MB, Bidichandani SI. Friedreich ataxia- pathogenesis and implications for therapies. Neurobiol Dis. 2019;132: 104606.","journal-title":"Neurobiol Dis"},{"issue":"4","key":"1113_CR44","doi-asserted-by":"publisher","first-page":"570","DOI":"10.1002\/ana.26200","volume":"90","author":"IH Harding","year":"2021","unstructured":"Harding IH, et al. Brain structure and degeneration staging in Friedreich Ataxia: magnetic resonance imaging volumetrics from the ENIGMA-Ataxia working group. Ann Neurol. 2021;90(4):570\u201383.","journal-title":"Ann Neurol"},{"issue":"11","key":"1113_CR45","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0225147","volume":"14","author":"RE Peverill","year":"2019","unstructured":"Peverill RE, et al. Left ventricular structural and functional changes in Friedreich ataxia - Relationship with body size, sex, age and genetic severity. PLoS ONE. 2019;14(11): e0225147.","journal-title":"PLoS ONE"},{"key":"1113_CR46","doi-asserted-by":"publisher","first-page":"71","DOI":"10.1016\/j.ijcard.2021.11.033","volume":"346","author":"JG Lees","year":"2022","unstructured":"Lees JG, et al. Cellular pathophysiology of Friedreich\u2019s ataxia cardiomyopathy. Int J Cardiol. 2022;346:71\u20138.","journal-title":"Int J Cardiol"},{"issue":"7","key":"1113_CR47","doi-asserted-by":"publisher","first-page":"1261","DOI":"10.1212\/01.WNL.0000156802.15466.79","volume":"64","author":"SH Subramony","year":"2005","unstructured":"Subramony SH, et al. Measuring Friedreich ataxia: interrater reliability of a neurologic rating scale. Neurology. 2005;64(7):1261\u20132.","journal-title":"Neurology"},{"key":"1113_CR48","doi-asserted-by":"crossref","unstructured":"Zesiewicz, T.A., Susan Perlman, Kelly L. Sullivan, Yangxin Huang, Jason L. Salemi, Matthew Klein, Charles Isaacs, Clifton Gooch, Jessica Shaw, David Lynch 88 (S16): S17.005 EPI-743 (alpha-tocotrienol quinone) demonstrates long-term improvement in neurological function and disease progression in Friedreich\u2019s ataxia. Neurology, 2017. 88(S17.005).","DOI":"10.1212\/WNL.88.16_supplement.S17.005"},{"issue":"6","key":"1113_CR49","doi-asserted-by":"publisher","first-page":"371","DOI":"10.1212\/NXG.0000000000000371","volume":"5","author":"C Rummey","year":"2019","unstructured":"Rummey C, et al. Psychometric properties of the Friedreich Ataxia Rating Scale. Neurol Genet. 2019;5(6):371.","journal-title":"Neurol Genet"},{"issue":"11","key":"1113_CR50","doi-asserted-by":"publisher","first-page":"1717","DOI":"10.1212\/01.wnl.0000219042.60538.92","volume":"66","author":"T Schmitz-H\u00fcbsch","year":"2006","unstructured":"Schmitz-H\u00fcbsch T, et al. Scale for the assessment and rating of ataxia: development of a new clinical scale. Neurology. 2006;66(11):1717\u201320.","journal-title":"Neurology"},{"issue":"3","key":"1113_CR51","doi-asserted-by":"publisher","first-page":"430","DOI":"10.1007\/s12311-020-01228-1","volume":"20","author":"LA Corben","year":"2021","unstructured":"Corben LA, et al. Developing an instrumented measure of upper limb function in Friedreich ataxia. Cerebellum. 2021;20(3):430\u20138.","journal-title":"Cerebellum"},{"issue":"4","key":"1113_CR52","doi-asserted-by":"publisher","first-page":"924","DOI":"10.1109\/TNSRE.2020.2977354","volume":"28","author":"KD Nguyen","year":"2020","unstructured":"Nguyen KD, et al. The assessment of upper limb functionality in Friedreich ataxia via self-feeding activity. IEEE Trans Neural Syst Rehabil Eng. 2020;28(4):924\u201333.","journal-title":"IEEE Trans Neural Syst Rehabil Eng"},{"issue":"1","key":"1113_CR53","doi-asserted-by":"publisher","first-page":"81","DOI":"10.1007\/s12311-010-0232-3","volume":"10","author":"H Akhlaghi","year":"2011","unstructured":"Akhlaghi H, et al. Superior cerebellar peduncle atrophy in Friedreich\u2019s ataxia correlates with disease symptoms. Cerebellum. 2011;10(1):81\u20137.","journal-title":"Cerebellum"},{"issue":"11","key":"1113_CR54","doi-asserted-by":"publisher","first-page":"2215","DOI":"10.1007\/s00415-016-8252-7","volume":"263","author":"LP Selvadurai","year":"2016","unstructured":"Selvadurai LP, et al. Cerebral and cerebellar grey matter atrophy in Friedreich ataxia: the IMAGE-FRDA study. J Neurol. 2016;263(11):2215\u201323.","journal-title":"J Neurol"},{"issue":"1\u20132","key":"1113_CR55","doi-asserted-by":"publisher","first-page":"138","DOI":"10.1016\/j.jns.2014.05.057","volume":"343","author":"LA Corben","year":"2014","unstructured":"Corben LA, et al. Myelin paucity of the superior cerebellar peduncle in individuals with Friedreich ataxia: an MRI magnetization transfer imaging study. J Neurol Sci. 2014;343(1\u20132):138\u201343.","journal-title":"J Neurol Sci"},{"issue":"1","key":"1113_CR56","doi-asserted-by":"publisher","first-page":"70","DOI":"10.1002\/mds.26436","volume":"31","author":"TJ Rezende","year":"2016","unstructured":"Rezende TJ, et al. Longitudinal magnetic resonance imaging study shows progressive pyramidal and callosal damage in Friedreich\u2019s ataxia. Mov Disord. 2016;31(1):70\u20138.","journal-title":"Mov Disord"},{"key":"1113_CR57","doi-asserted-by":"publisher","first-page":"872","DOI":"10.3389\/fnins.2020.00872","volume":"14","author":"M Vavla","year":"2020","unstructured":"Vavla M, et al. Sensitivity of neuroimaging indicators in monitoring the effects of interferon gamma treatment in Friedreich\u2019s ataxia. Front Neurosci. 2020;14:872.","journal-title":"Front Neurosci"},{"issue":"3","key":"1113_CR58","doi-asserted-by":"publisher","first-page":"335","DOI":"10.1002\/mds.27606","volume":"34","author":"PGD Ward","year":"2019","unstructured":"Ward PGD, et al. Longitudinal evaluation of iron concentration and atrophy in the dentate nuclei in friedreich ataxia. Mov Disord. 2019;34(3):335\u201343.","journal-title":"Mov Disord"},{"issue":"11","key":"1113_CR59","doi-asserted-by":"publisher","first-page":"2219","DOI":"10.1002\/jnr.24701","volume":"98","author":"S Straub","year":"2020","unstructured":"Straub S, et al. Toward quantitative neuroimaging biomarkers for Friedreich\u2019s ataxia at 7 Tesla: susceptibility mapping, diffusion imaging, R(2) and R(1) relaxometry. J Neurosci Res. 2020;98(11):2219\u201331.","journal-title":"J Neurosci Res"},{"key":"1113_CR60","doi-asserted-by":"crossref","unstructured":"Joers, J.M., et al., Spinal cord magnetic resonance imaging and spectroscopy detect early-stage alterations and disease progression in Friedreich ataxia. Brain Commun, 2022. 4(5): p. fcac246.","DOI":"10.1093\/braincomms\/fcac246"},{"issue":"11","key":"1113_CR61","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0269649","volume":"17","author":"N Georgiou-Karistianis","year":"2022","unstructured":"Georgiou-Karistianis N, et al. A natural history study to track brain and spinal cord changes in individuals with Friedreich\u2019s ataxia: TRACK-FA study protocol. PLoS ONE. 2022;17(11): e0269649.","journal-title":"PLoS ONE"},{"issue":"2","key":"1113_CR62","doi-asserted-by":"publisher","first-page":"209","DOI":"10.1007\/s40256-019-00375-z","volume":"20","author":"L Legrand","year":"2020","unstructured":"Legrand L, et al. Predictors of left ventricular dysfunction in Friedreich\u2019s ataxia in a 16-year observational study. Am J Cardiovasc Drugs. 2020;20(2):209\u201316.","journal-title":"Am J Cardiovasc Drugs"},{"issue":"4","key":"1113_CR63","doi-asserted-by":"publisher","first-page":"558","DOI":"10.1001\/archneur.64.4.558","volume":"64","author":"P Riba\u00ef","year":"2007","unstructured":"Riba\u00ef P, et al. Neurological, cardiological, and oculomotor progression in 104 patients with Friedreich ataxia during long-term follow-up. Arch Neurol. 2007;64(4):558\u201364.","journal-title":"Arch Neurol"},{"issue":"17","key":"1113_CR64","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.112.115287","volume":"126","author":"RE Peverill","year":"2012","unstructured":"Peverill RE. Letter by Peverill regarding article, \u201cThe heart in Friedreich ataxia: definition of cardiomyopathy, disease severity, and correlation with neurological symptoms.\u201d Circulation. 2012;126(17): e272.","journal-title":"Circulation"},{"key":"1113_CR65","doi-asserted-by":"crossref","unstructured":"Rummey, C., et al., Evaluating mFARS in pediatric Friedreich's ataxia: Insights from the FACHILD study. Ann Clin Transl Neurol, 2024.","DOI":"10.1002\/acn3.52057"},{"issue":"1","key":"1113_CR66","doi-asserted-by":"publisher","first-page":"63","DOI":"10.1016\/j.neuroimage.2009.08.016","volume":"49","author":"H Tiemeier","year":"2010","unstructured":"Tiemeier H, et al. Cerebellum development during childhood and adolescence: a longitudinal morphometric MRI study. Neuroimage. 2010;49(1):63\u201370.","journal-title":"Neuroimage"},{"key":"1113_CR67","doi-asserted-by":"crossref","unstructured":"Gavriilaki, M., et al., Therapeutic biomarkers in Friedreich's ataxia: a systematic review and meta-analysis. Cerebellum, 2023.","DOI":"10.1007\/s12311-023-01621-6"},{"key":"1113_CR68","unstructured":"U.S. Food and Drug Administration. Patient-focused drug development: selecting, developing, or modifying fit for purpose clinical outcome assessments 2022 [cited 2024 9 April 2024]; Available from: https:\/\/www.fda.gov\/regulatory-information\/search-fda-guidance-documents\/patient-focused-drug-development-selecting-developing-or-modifying-fit-purpose-clinical-outcome."},{"key":"1113_CR69","unstructured":"Friedreich\u2019s Ataxia Research Alliance, The voice of the patient. 2017: https:\/\/www.curefa.org\/pdf\/news\/FA-Voice-of-the-Patient.pdf."},{"issue":"1","key":"1113_CR70","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1186\/s13023-021-02091-x","volume":"17","author":"G Thomas-Black","year":"2022","unstructured":"Thomas-Black G, et al. The attitude of patients with progressive ataxias towards clinical trials. Orphanet J Rare Dis. 2022;17(1):1.","journal-title":"Orphanet J Rare Dis"},{"issue":"19\u201320","key":"1113_CR71","doi-asserted-by":"publisher","first-page":"1041","DOI":"10.1089\/hum.2023.088","volume":"34","author":"K Lieschke","year":"2023","unstructured":"Lieschke K, et al. How great a risk do you take? A qualitative study exploring attitudes of individuals with Friedreich ataxia toward gene therapy. Hum Gene Ther. 2023;34(19\u201320):1041\u20138.","journal-title":"Hum Gene Ther"},{"issue":"1","key":"1113_CR72","doi-asserted-by":"publisher","DOI":"10.1016\/j.omtm.2023.101179","volume":"32","author":"SJ Trantham","year":"2024","unstructured":"Trantham SJ, et al. Perspectives of the Friedreich ataxia community on gene therapy clinical trials. Mol Ther Methods Clin Dev. 2024;32(1): 101179.","journal-title":"Mol Ther Methods Clin Dev"},{"key":"1113_CR73","doi-asserted-by":"crossref","unstructured":"Rummey C, K.E., Lynch DR, Clinical trial design for Friedreich ataxia - Where are we now and what do we need? OrphDrugs, 2018. 6(3): p. 219-230.","DOI":"10.1080\/21678707.2018.1449638"},{"key":"1113_CR74","unstructured":"Friedreich\u2019s Ataxia Research Alliance. Drug development pipeline. 2024 [cited 2024 25 June, 2024]; Available from: https:\/\/www.curefa.org\/wp-content\/uploads\/2024\/06\/Pipeline-June-18-2024.pdf."},{"issue":"8","key":"1113_CR75","doi-asserted-by":"publisher","first-page":"725","DOI":"10.1007\/s40265-023-01874-9","volume":"83","author":"A Lee","year":"2023","unstructured":"Lee A. Omaveloxolone: first approval. Drugs. 2023;83(8):725\u20139.","journal-title":"Drugs"},{"key":"1113_CR76","unstructured":"Biogen, Biogen received european commission approval for SKYCLARYS\u00ae (omaveloxolone), the first therapy to treat Friedreich\u2019s ataxia. 2024."},{"issue":"2","key":"1113_CR77","doi-asserted-by":"publisher","first-page":"212","DOI":"10.1002\/ana.25934","volume":"89","author":"DR Lynch","year":"2021","unstructured":"Lynch DR, et al. Safety and efficacy of omaveloxolone in Friedreich ataxia (MOXIe Study). Ann Neurol. 2021;89(2):212\u201325.","journal-title":"Ann Neurol"},{"issue":"1","key":"1113_CR78","doi-asserted-by":"publisher","first-page":"4","DOI":"10.1002\/acn3.51897","volume":"11","author":"DR Lynch","year":"2024","unstructured":"Lynch DR, et al. Propensity matched comparison of omaveloxolone treatment to Friedreich ataxia natural history data. Ann Clin Transl Neurol. 2024;11(1):4\u201316.","journal-title":"Ann Clin Transl Neurol"},{"issue":"2","key":"1113_CR79","doi-asserted-by":"publisher","first-page":"775","DOI":"10.1007\/s12311-023-01568-8","volume":"23","author":"SH Subramony","year":"2024","unstructured":"Subramony SH, Lynch DL. A milestone in the treatment of ataxias: approval of omaveloxolone for Friedreich ataxia. Cerebellum. 2024;23(2):775\u20137.","journal-title":"Cerebellum"},{"issue":"12","key":"1113_CR80","doi-asserted-by":"publisher","first-page":"3693","DOI":"10.1016\/j.bmcl.2011.04.085","volume":"21","author":"WD Shrader","year":"2011","unstructured":"Shrader WD, et al. \u03b1-Tocotrienol quinone modulates oxidative stress response and the biochemistry of aging. Bioorg Med Chem Lett. 2011;21(12):3693\u20138.","journal-title":"Bioorg Med Chem Lett"},{"key":"1113_CR81","unstructured":"PTC Therapeutics, PTC Therapeutics announces topline results from vatiquinone MOVE-FA Registration-Directed Trial. 2023."},{"key":"1113_CR82","doi-asserted-by":"crossref","unstructured":"PTC Therapeutics, PTC Therapeutics provides corporate update and reports fourth quarter and full year 2023 financial results. 2024.","DOI":"10.1016\/j.fopow.2024.02.017"},{"issue":"1","key":"1113_CR83","doi-asserted-by":"publisher","first-page":"90","DOI":"10.1093\/gerona\/glac049","volume":"78","author":"KM Pencina","year":"2023","unstructured":"Pencina KM, et al. MIB-626, an oral formulation of a microcrystalline unique polymorph of \u03b2-nicotinamide mononucleotide, increases circulating nicotinamide adenine dinucleotide and its metabolome in middle-aged and older adults. J Gerontol A Biol Sci Med Sci. 2023;78(1):90\u20136.","journal-title":"J Gerontol A Biol Sci Med Sci"},{"key":"1113_CR84","doi-asserted-by":"publisher","first-page":"1359618","DOI":"10.3389\/fphar.2024.1359618","volume":"15","author":"FJ Edzeamey","year":"2024","unstructured":"Edzeamey FJ, et al. Emerging antioxidant therapies in Friedreich\u2019s ataxia. Front Pharmacol. 2024;15:1359618.","journal-title":"Front Pharmacol"},{"issue":"6","key":"1113_CR85","doi-asserted-by":"publisher","first-page":"3529","DOI":"10.1007\/s11357-023-00861-y","volume":"45","author":"G Pharaoh","year":"2023","unstructured":"Pharaoh G, et al. The mitochondrially targeted peptide elamipretide (SS-31) improves ADP sensitivity in aged mitochondria by increasing uptake through the adenine nucleotide translocator (ANT). Geroscience. 2023;45(6):3529\u201348.","journal-title":"Geroscience"},{"issue":"3","key":"1113_CR86","doi-asserted-by":"publisher","first-page":"e238","DOI":"10.1212\/WNL.0000000000207402","volume":"101","author":"A Karaa","year":"2023","unstructured":"Karaa A, et al. Efficacy and safety of elamipretide in individuals with primary mitochondrial myopathy: The MMPOWER-3 randomized clinical trial. Neurology. 2023;101(3):e238\u201352.","journal-title":"Neurology"},{"issue":"5","key":"1113_CR87","doi-asserted-by":"publisher","first-page":"1344","DOI":"10.1007\/s00415-015-7719-2","volume":"262","author":"EM Yiu","year":"2015","unstructured":"Yiu EM, et al. An open-label trial in Friedreich ataxia suggests clinical benefit with high-dose resveratrol, without effect on frataxin levels. J Neurol. 2015;262(5):1344\u201353.","journal-title":"J Neurol"},{"key":"1113_CR88","doi-asserted-by":"publisher","DOI":"10.1016\/j.nbd.2020.105162","volume":"148","author":"L Rodr\u00edguez-Pascau","year":"2021","unstructured":"Rodr\u00edguez-Pascau L, et al. PPAR gamma agonist leriglitazone improves frataxin-loss impairments in cellular and animal models of Friedreich Ataxia. Neurobiol Dis. 2021;148: 105162.","journal-title":"Neurobiol Dis"},{"issue":"13","key":"1113_CR89","doi-asserted-by":"publisher","first-page":"2452","DOI":"10.1093\/hmg\/ddp183","volume":"18","author":"G Coppola","year":"2009","unstructured":"Coppola G, et al. Functional genomic analysis of frataxin deficiency reveals tissue-specific alterations and identifies the PPARgamma pathway as a therapeutic target in Friedreich\u2019s ataxia. Hum Mol Genet. 2009;18(13):2452\u201361.","journal-title":"Hum Mol Genet"},{"issue":"6","key":"1113_CR90","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000200034","volume":"8","author":"M Pandolfo","year":"2022","unstructured":"Pandolfo M, et al. Efficacy and safety of leriglitazone in patients with Friedreich ataxia: a phase 2 double-blind, randomized controlled trial (FRAMES). Neurol Genet. 2022;8(6): e200034.","journal-title":"Neurol Genet"},{"key":"1113_CR91","unstructured":"Friedreich\u2019s Ataxia Research Alliance. Research pipeline. 2024 [cited 2024 9 April, 2024]; Available from: https:\/\/www.curefa.org\/research\/research-pipeline."},{"issue":"3","key":"1113_CR92","doi-asserted-by":"publisher","first-page":"540","DOI":"10.1002\/acn3.51971","volume":"11","author":"R Clayton","year":"2024","unstructured":"Clayton R, et al. Safety, pharmacokinetics, and pharmacodynamics of nomlabofusp (CTI-1601) in Friedreich\u2019s ataxia. Ann Clin Transl Neurol. 2024;11(3):540\u201353.","journal-title":"Ann Clin Transl Neurol"},{"key":"1113_CR93","unstructured":"Larimar Therapeutics, Larimar therapeutics reports positive top-line data from phase 2 dose exploration study from 25 mg and 50 mg cohorts of nomlabofusp in patients with Friedreich\u2019s ataxia. 2024."},{"key":"1113_CR94","unstructured":"Larimar Therapeutics, Larimar therapeutics announces the dosing of the first patient in long-term open label extension study for nomlabofusp in patients with Friedreich\u2019s ataxia. 2024."},{"issue":"7","key":"1113_CR95","doi-asserted-by":"publisher","first-page":"539","DOI":"10.1038\/s41573-023-00704-7","volume":"22","author":"O Khorkova","year":"2023","unstructured":"Khorkova O, et al. Amplifying gene expression with RNA-targeted therapeutics. Nat Rev Drug Discov. 2023;22(7):539\u201361.","journal-title":"Nat Rev Drug Discov"},{"key":"1113_CR96","unstructured":"Design Therapeutics, Design therapeutics outlines progress across GeneTAC\u2122 platform and announces fourth quarter and full year 2023 financial results. 2024."},{"issue":"25","key":"1113_CR97","doi-asserted-by":"publisher","first-page":"6848","DOI":"10.1093\/hmg\/ddu408","volume":"23","author":"S Sahdeo","year":"2014","unstructured":"Sahdeo S, et al. Dyclonine rescues frataxin deficiency in animal models and buccal cells of patients with Friedreich\u2019s ataxia. Hum Mol Genet. 2014;23(25):6848\u201362.","journal-title":"Hum Mol Genet"},{"issue":"6","key":"1113_CR98","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0217776","volume":"14","author":"M Jasoliya","year":"2019","unstructured":"Jasoliya M, et al. Dimethyl fumarate dosing in humans increases frataxin expression: a potential therapy for Friedreich\u2019s ataxia. PLoS ONE. 2019;14(6): e0217776.","journal-title":"PLoS ONE"},{"key":"1113_CR99","doi-asserted-by":"publisher","first-page":"1260977","DOI":"10.3389\/fnins.2023.1260977","volume":"17","author":"C Pane","year":"2023","unstructured":"Pane C, et al. Rationale and protocol of a double-blind, randomized, placebo-controlled trial to test the efficacy, safety, and tolerability of dimethyl fumarate in Friedreich Ataxia (DMF-FA-201). Front Neurosci. 2023;17:1260977.","journal-title":"Front Neurosci"},{"key":"1113_CR100","doi-asserted-by":"publisher","DOI":"10.3389\/fnins.2022.814445","volume":"16","author":"A Rufini","year":"2022","unstructured":"Rufini A, et al. Drug repositioning in Friedreich ataxia. Front Neurosci. 2022;16: 814445.","journal-title":"Front Neurosci"},{"issue":"3","key":"1113_CR101","doi-asserted-by":"publisher","first-page":"323","DOI":"10.1002\/mds.27604","volume":"34","author":"G Alfedi","year":"2019","unstructured":"Alfedi G, et al. Drug repositioning screening identifies etravirine as a potential therapeutic for friedreich\u2019s ataxia. Mov Disord. 2019;34(3):323\u201334.","journal-title":"Mov Disord"},{"key":"1113_CR102","doi-asserted-by":"crossref","unstructured":"Paparella, G., et al., A pilot phase 2 randomized trial to evaluate the safety and potential efficacy of etravirine in Friedreich ataxia patients, in Preprints. 2024, Preprints.","DOI":"10.20944\/preprints202402.1303.v1"},{"key":"1113_CR103","doi-asserted-by":"crossref","unstructured":"Landhuis, E., The definition of gene therapy has changed, in Nature 2021: https:\/\/www.nature.com\/articles\/d41586-021-02736-8.","DOI":"10.1038\/d41586-021-02736-8"},{"issue":"2","key":"1113_CR104","doi-asserted-by":"publisher","first-page":"464","DOI":"10.1016\/j.ymthe.2020.12.007","volume":"29","author":"JR Mendell","year":"2021","unstructured":"Mendell JR, et al. Current clinical applications of in vivo gene therapy with AAVs. Mol Ther. 2021;29(2):464\u201388.","journal-title":"Mol Ther"},{"issue":"1","key":"1113_CR105","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/S1474-4422(16)30352-0","volume":"16","author":"L Neurology","year":"2016","unstructured":"Neurology L. Rare advances for rare diseases. Lancet Neurol. 2016;16(1):1.","journal-title":"Lancet Neurol"},{"key":"1113_CR106","doi-asserted-by":"crossref","unstructured":"Ocana-Santero, G., J. D\u00edaz-Nido, and S. Herranz-Mart\u00edn, Future prospects of gene therapy for Friedreich's ataxia. Int J Mol Sci, 2021. 22(4).","DOI":"10.3390\/ijms22041815"},{"issue":"5","key":"1113_CR107","doi-asserted-by":"publisher","first-page":"542","DOI":"10.1038\/nm.3510","volume":"20","author":"M Perdomini","year":"2014","unstructured":"Perdomini M, et al. Prevention and reversal of severe mitochondrial cardiomyopathy by gene therapy in a mouse model of Friedreich\u2019s ataxia. Nat Med. 2014;20(5):542\u20137.","journal-title":"Nat Med"},{"issue":"8","key":"1113_CR108","doi-asserted-by":"publisher","first-page":"1940","DOI":"10.1016\/j.ymthe.2018.05.006","volume":"26","author":"F Piguet","year":"2018","unstructured":"Piguet F, et al. Rapid and complete reversal of sensory ataxia by gene therapy in a novel model of Friedreich ataxia. Mol Ther. 2018;26(8):1940\u201352.","journal-title":"Mol Ther"},{"key":"1113_CR109","doi-asserted-by":"publisher","DOI":"10.3389\/fgeed.2022.903139","volume":"4","author":"A Sivakumar","year":"2022","unstructured":"Sivakumar A, Cherqui S. Advantages and limitations of gene therapy and gene editing for Friedreich\u2019s ataxia. Front Genome Ed. 2022;4: 903139.","journal-title":"Front Genome Ed"},{"key":"1113_CR110","doi-asserted-by":"publisher","DOI":"10.1016\/j.addr.2023.115026","volume":"200","author":"J Popovitz","year":"2023","unstructured":"Popovitz J, et al. Gene editing therapeutics based on mRNA delivery. Adv Drug Deliv Rev. 2023;200: 115026.","journal-title":"Adv Drug Deliv Rev"},{"issue":"15\u201316","key":"1113_CR111","doi-asserted-by":"publisher","first-page":"839","DOI":"10.1089\/hum.2020.053","volume":"31","author":"J Li","year":"2020","unstructured":"Li J, et al. Defining transcription regulatory elements in the human frataxin gene: implications for gene therapy. Hum Gene Ther. 2020;31(15\u201316):839\u201351.","journal-title":"Hum Gene Ther"},{"issue":"1","key":"1113_CR112","doi-asserted-by":"publisher","first-page":"45","DOI":"10.1186\/s40035-023-00376-8","volume":"12","author":"S Maheshwari","year":"2023","unstructured":"Maheshwari S, Vilema-Enr\u00edquez G, Wade-Martins R. Patient-derived iPSC models of Friedreich ataxia: a new frontier for understanding disease mechanisms and therapeutic application. Transl Neurodegener. 2023;12(1):45.","journal-title":"Transl Neurodegener"},{"key":"1113_CR113","doi-asserted-by":"publisher","DOI":"10.1016\/j.scr.2019.101529","volume":"40","author":"J Li","year":"2019","unstructured":"Li J, et al. Excision of the expanded GAA repeats corrects cardiomyopathy phenotypes of iPSC-derived Friedreich\u2019s ataxia cardiomyocytes. Stem Cell Res. 2019;40: 101529.","journal-title":"Stem Cell Res"},{"issue":"9","key":"1113_CR114","doi-asserted-by":"publisher","first-page":"1118","DOI":"10.1261\/rna.071290.119","volume":"25","author":"X Shen","year":"2019","unstructured":"Shen X, et al. Efficient electroporation of neuronal cells using synthetic oligonucleotides: identifying duplex RNA and antisense oligonucleotide activators of human frataxin expression. RNA. 2019;25(9):1118\u201329.","journal-title":"RNA"},{"issue":"1","key":"1113_CR115","doi-asserted-by":"publisher","first-page":"4178","DOI":"10.1038\/s41467-020-17954-3","volume":"11","author":"PG Mazzara","year":"2020","unstructured":"Mazzara PG, et al. Frataxin gene editing rescues Friedreich\u2019s ataxia pathology in dorsal root ganglia organoid-derived sensory neurons. Nat Commun. 2020;11(1):4178.","journal-title":"Nat Commun"},{"issue":"6","key":"1113_CR116","doi-asserted-by":"publisher","first-page":"1055","DOI":"10.1038\/mt.2015.41","volume":"23","author":"Y Li","year":"2015","unstructured":"Li Y, et al. Excision of expanded GAA repeats alleviates the molecular phenotype of Friedreich\u2019s ataxia. Mol Ther. 2015;23(6):1055\u201365.","journal-title":"Mol Ther"},{"issue":"5","key":"1113_CR117","doi-asserted-by":"publisher","first-page":"265","DOI":"10.1038\/gt.2016.89","volume":"24","author":"DL Ouellet","year":"2017","unstructured":"Ouellet DL, et al. Deletion of the GAA repeats from the human frataxin gene using the CRISPR-Cas9 system in YG8R-derived cells and mouse models of Friedreich ataxia. Gene Ther. 2017;24(5):265\u201374.","journal-title":"Gene Ther"},{"key":"1113_CR118","doi-asserted-by":"crossref","unstructured":"Mishra, P., et al., Gene editing improves endoplasmic reticulum-mitochondrial contacts and unfolded protein response in Friedreich\u2019s ataxia iPSC-derived neurons. Frontiers in Pharmacology, 2024. 15.","DOI":"10.3389\/fphar.2024.1323491"},{"issue":"15\u201316","key":"1113_CR119","doi-asserted-by":"publisher","first-page":"819","DOI":"10.1089\/hum.2019.363","volume":"31","author":"CO Salami","year":"2020","unstructured":"Salami CO, et al. Stress-induced mouse model of the cardiac manifestations of Friedreich\u2019s ataxia corrected by AAV-mediated gene therapy. Hum Gene Ther. 2020;31(15\u201316):819\u201327.","journal-title":"Hum Gene Ther"},{"key":"1113_CR120","doi-asserted-by":"crossref","unstructured":"Munoz-Zuluaga, C., et al., Identification of safe and effective intravenous dose of AAVrh.10hFXN to treat the cardiac manifestations of Friedreich's ataxia. Hum Gene Ther, 2023. 34(13-14): p. 605-615.","DOI":"10.1089\/hum.2023.020"},{"key":"1113_CR121","doi-asserted-by":"crossref","unstructured":"LEXEO Therapeutics, LEXEO THERAPEUTICS REPORTS FOURTH QUARTER AND FULL YEAR 2023 FINANCIAL RESULTS AND OPERATIONAL HIGHLIGHTS. 2024.","DOI":"10.1016\/j.fopow.2024.02.017"},{"issue":"1","key":"1113_CR122","doi-asserted-by":"publisher","DOI":"10.1016\/j.omtm.2024.101193","volume":"32","author":"JC Chang","year":"2024","unstructured":"Chang JC, et al. AAV8 gene therapy reverses cardiac pathology and prevents early mortality in a mouse model of Friedreich\u2019s ataxia. Mol Ther Methods Clin Dev. 2024;32(1): 101193.","journal-title":"Mol Ther Methods Clin Dev"},{"key":"1113_CR123","unstructured":"Friedreich Ataxia Research Alliance. Astellas shares that US FDA cleared their IND with Fast Track designation for Phase 1 trial of their investigational gene therapy for the treatment of cardiomyopathy in FA. 2024 [cited 2024 24 June 2024]; Available from: https:\/\/www.curefa.org\/astellas-shares-that-us-fda-cleared-their-ind-with-fast-track-designation-for-phase-1-trial-of-their-investigational-gene-therapy-for-the-treatment-of-cardiomyopathy-in-fa\/."},{"key":"1113_CR124","unstructured":"Okamura, N., FY2023 Financial Results Ended March 31, 2024. 2024, Astellas."},{"key":"1113_CR125","unstructured":"Pavlath, G.K. Efficacy and safety of a novel AAV FXN gene therapy (AVB-202) for the treatment of Friedreich\u2019s ataxia. In American Society for Cell and Gene Therapy. 2023. Los Angeles, CA."},{"key":"1113_CR126","unstructured":"Voyager Therapeutics, I., Voyager Therapeutics Announces Selection of Gene Therapy Development Candidate for Friedreich\u2019s Ataxia in Collaboration with Neurocrine Biosciences, Triggering Milestone Payment. 2024, Voyager Therapeutics: www.voyagertherapeutics.com"},{"key":"1113_CR127","unstructured":"Anzalone, A., Developing Prime Editors to Treat Repeat Expansion Diseases, in 6th International Conference on CRISPR Technologies. 2023: Boston, MA."},{"key":"1113_CR128","unstructured":"Papillon Therapeutics. FXN corrected HSPC. 2024 [cited 2024 2 July 2024]; https:\/\/www.papillon-tx.com\/science."},{"key":"1113_CR129","doi-asserted-by":"crossref","unstructured":"Rocca CJ, et al. Transplantation of wild-type mouse hematopoietic stem and progenitor cells ameliorates deficits in a mouse model of Friedreich's ataxia. Sci Transl Med. 2017;9(413).","DOI":"10.1126\/scitranslmed.aaj2347"},{"issue":"15","key":"1113_CR130","doi-asserted-by":"publisher","first-page":"1855","DOI":"10.1080\/14656566.2019.1639671","volume":"20","author":"A Clay","year":"2019","unstructured":"Clay A, et al. New developments in pharmacotherapy for Friedreich ataxia. Expert Opin Pharmacother. 2019;20(15):1855\u201367.","journal-title":"Expert Opin Pharmacother"}],"container-title":["CNS Drugs"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s40263-024-01113-z.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s40263-024-01113-z\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s40263-024-01113-z.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,9,5]],"date-time":"2024-09-05T08:28:11Z","timestamp":1725524891000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s40263-024-01113-z"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,8,8]]},"references-count":130,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2024,10]]}},"alternative-id":["1113"],"URL":"https:\/\/doi.org\/10.1007\/s40263-024-01113-z","relation":{},"ISSN":["1172-7047","1179-1934"],"issn-type":[{"value":"1172-7047","type":"print"},{"value":"1179-1934","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,8,8]]},"assertion":[{"value":"18 July 2024","order":1,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"8 August 2024","order":2,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Open access funding enabled and organized by CAUL and its Member Institutions. V.S. and L.A.C. receive funding support from the Friedreich Ataxia Research Alliance (USA) via the Australian Friedreich Ataxia Stem Cell and Gene Therapy Consortium.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Funding"}},{"value":"V.S. and G.T. do not report any conflicts of interest. M.B.D. and L.A.C. were the Principal Investigator and Co-Investigator respectively for the clinical trial for Resveratrol (funded by the National Health and Medical Research Council (NHMRC) project grant 1102207). M.B.D. receives funding from PTC Therapeutics and Biogen to conduct clinical trials. L.A.C. provides consultancy services to Biogen Inc.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"Not applicable.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval"}},{"value":"Not applicable.","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to participate"}},{"value":"Not applicable.","order":6,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"All data generated or analysed during this study are included in this published article.","order":7,"name":"Ethics","group":{"name":"EthicsHeading","label":"Availability of data and material"}},{"value":"Not applicable.","order":8,"name":"Ethics","group":{"name":"EthicsHeading","label":"Code availability"}},{"value":"V.S. and L.A.C. conceived and designed the work, completed the literature review and analysis and prepared the first manuscript draft. G.T. and M.B.D. contributed to literature review and analysis and provided critical review of manuscript drafts. All authors have read and approve the final version of the manuscript and agree to be accountable for the work.","order":9,"name":"Ethics","group":{"name":"EthicsHeading","label":"Author contribution"}}]}}