Intracerebral lentiviral ABCD1 gene therapy in an early disease onset ALD mouse model

Raymond GV. Leukodystrophy: basic and clinical. Adv Neurobiol. 2017;15:365–82.

PubMed  Article  Google Scholar 

Deon M, Marchetti DP, Donida B, Wajner M, Vargas C. Oxidative stress in patients with X-linked adrenoleukodystrophy. Cell Mol Neurobiol. 2015;36:497–512.

PubMed  Article  CAS  Google Scholar 

Ohashi T. Gene therapy for lysosomal storage diseases and peroxisomal diseases. J Hum Genet. 2018;64:139–43.

PubMed  Article  Google Scholar 

Powers JM, Pei Z, Heinzer AK, Deering R, Moser AB, Moser HW, et al. Adreno-leukodystrophy: oxidative stress of mice and men. J Neuropathol Exp Neurol. 2005;64:1067–79.

CAS  PubMed  Article  Google Scholar 

Jia MR, Wu WZ, Li CM, Cai XH, Zhang L, Yan F, et al. Clinical characteristics and phenotype distribution in 10 chinese patients with X-linked adrenoleukodystrophy. Exp Ther Med. 2019;18:1945–52.

CAS  PubMed  PubMed Central  Google Scholar 

Kemp S, Berger J, Aubourg P. X-linked adrenoleukodystrophy: Clinical, metabolic, genetic and pathophysiological aspects. Biochim Biophys Acta. 2012;1822:1465–74.

CAS  PubMed  Article  Google Scholar 

Sassa T, Wakashima T, Ohno Y, Kihara A. Lorenzo’s oil inhibits ELOVL1 and lowers the level of sphingomyelin with a saturated very long-chain fatty acid. J Lipid Res. 2014;55:524–30.

CAS  PubMed  PubMed Central  Article  Google Scholar 

Ciftciler R, Goker H, Buyukasik Y, Topcu M, Gevher N, Demiroglu H. The experience of allogeneic hematopoietic stem cell transplantation in a patient with X-linked adrenoleukodystrophy. Transfus Apher Sci. 2020;59:102583.

PubMed  Article  Google Scholar 

Mallack EJ, Turk B, Yan H, Eichler FS. The landscape of hematopoietic stem cell transplant and gene therapy for X-linked adrenoleukodystrophy. Curr Treat Options Neurol. 2019;21:61.

PubMed  Article  Google Scholar 

Thwaite R, Pagès G, Chillón M, Bosch A. AAVrh.10 immunogenicity in mice and humans. Relevance of antibody cross-reactivity in human gene therapy. Gene Ther. 2014;22:196–201.

PubMed  Article  CAS  Google Scholar 

Zhao L, Gottesdiener AJ, Parmar M, Li M, Kaminsky SM, Chiuchiolo MJ, et al. Intracerebral adeno-associated virus gene delivery of apolipoprotein E2 markedly reduces brain amyloid pathology in Alzheimer’s disease mouse models. Neurobiol Aging. 2016;44:159–72.

CAS  PubMed  Article  Google Scholar 

Tardieu M, Zérah M, Gougeon M-L, Ausseil J, de Bournonville S, Husson B, et al. Intracerebral gene therapy in children with mucopolysaccharidosis type IIIb syndrome: an uncontrolled phase 1/2 clinical trial. Lancet Neurol. 2017;16:712–20.

CAS  PubMed  Article  Google Scholar 

Russell KN, Mitchell NL, Anderson NG, Bunt CR, Wellby MP, Melzer TR, et al. Computed tomography provides enhanced techniques for longitudinal monitoring of progressive intracranial volume loss associated with regional neurodegeneration in ovine neuronal ceroid lipofuscinoses. Brain Behav. 2018;8:e01096.

PubMed  PubMed Central  Article  Google Scholar 

Chien Y-H, Lee N-C, Tseng S-H, Tai C-H, Muramatsu S-I, Byrne BJ, et al. Efficacy and safety of AAV2 gene therapy in children with aromatic L-amino acid decarboxylase deficiency: an open-label, phase 1/2 trial. Lancet Child Adoles Health. 2017;1:265–73.

Article  Google Scholar 

Naso MF, Tomkowicz B, Perry WL 3rd, Strohl WR. Adeno-associated virus (AAV) as a vector for gene therapy. BioDrugs. 2017;31:317–34.

CAS  PubMed  PubMed Central  Article  Google Scholar 

Chang L-J, Urlacher V, Iwakuma T, Cui Y, Zucali J. Efficacy and safety analyses of a recombinant human immunodeficiency virus type 1 derived vector system. Gene Ther. 1999;6:715–28.

CAS  PubMed  Article  Google Scholar 

Chang L-J, Gay EE. The molecular genetics of lentiviral vectors - current and future perspectives. Curr Gene Ther. 2001;1:237–51.

CAS  PubMed  Article  Google Scholar 

Engelen M, Kemp S, Poll-The BT. X-linked adrenoleukodystrophy: Pathogenesis and treatment. Curr Neurol Neurosci Rep. 2014;14:486.

PubMed  Article  CAS  Google Scholar 

Eichler F, Duncan C, Musolino PL, Orchard PJ, De Oliveira S, Thrasher AJ, et al. Hematopoietic stem-cell gene therapy for cerebral adrenoleukodystrophy. N Engl J Med. 2017;377:1630–8.

CAS  PubMed  PubMed Central  Article  Google Scholar 

Nathalie Cartier SH-B-A. Hematopoietic stem cell gene therapy with a lentiviral vector in X-linked adrenoleukodystrophy. Science. 2009;326:818–23.

PubMed  Article  CAS  Google Scholar 

Palfi S, Gurruchaga JM, Ralph GS, Lepetit H, Lavisse S, Buttery PC, et al. Long-term safety and tolerability of prosavin, a lentiviral vector-based gene therapy for Parkinson’s disease: a dose escalation, open-label, phase 1/2 trial. Lancet. 2014;383:1138–46.

CAS  PubMed  Article  Google Scholar 

Meneghini V, Lattanzi A, Tiradani L, Bravo G, Morena F, Sanvito F, et al. Pervasive supply of therapeutic lysosomal enzymes in the CNS of normal and Krabbe-affected non-human primates by intracerebral lentiviral gene therapy. EMBO Mol Med. 2016;8:489–510.

CAS  PubMed  PubMed Central  Article  Google Scholar 

Chang L-J, Liu X, He J. Lentiviral siRNAs targeting multiple highly conserved RNA sequences of human immunodeficiency virus type 1. Gene Ther. 2005;12:1133–44.

CAS  PubMed  Article  Google Scholar 

Gong J, Chung T-H, Zheng J, Zheng H, Chang L-J. Transduction of modified factor VIII gene improves lentiviral gene therapy efficacy for hemophilia A. J Biol Chem. 2021;297:101397.

CAS  PubMed  PubMed Central  Article  Google Scholar 

Vowells SJ, Sekhsaria S, Malech HL, Shalit M, Fleisher TA. Flow cytometric analysis of the granulocyte respiratory burst: a comparison study of fluorescent probes. J Immunol Meth. 1995;178:89–97.

CAS  Article  Google Scholar 

Pujol A, Hindelang C, Callizot N, Bartsch U, Schachner M, Mandel JL. Late onset neurological phenotype of the X-ALD gene inactivation in mice: a mouse model for adrenomyeloneuropathy. Hum Mol Genet. 2002;11:499–505.

CAS  PubMed  Article  Google Scholar 

Lu JF, Lawler AM, Watkins PA, Powers JM, Moser AB, Moser HW, et al. A mouse model for X-linked adrenoleukodystrophy. Proc Natl Acad Sci USA. 1997;94:9366–71.

CAS  PubMed  PubMed Central  Article  Google Scholar 

Kobayashi T, Shinnoh N, Kondo A, Yamada T. Adrenoleukodystrophy protein-deficient mice represent abnormality of very long chain fatty acid metabolism. Bioch and Biophys Res Comm. 1997;232:5.

Article  Google Scholar 

Turk BR, Theda C, Fatemi A, Moser AB. X-linked adrenoleukodystrophy: pathology, pathophysiology, diagnostic testing, newborn screening and therapies. Int J Dev Neurosci. 2020;80:52–72.

PubMed  PubMed Central  Article  Google Scholar 

Igarashi M, Schaumburg HH, Powers J, Kishmoto Y, Kolodny E, Suzuki K. Fatty acid abnormality in adrenoleukodystrophy. J Neurochem. 1976;26:851–60.

CAS  PubMed  Article  Google Scholar 

Vargas CR, Wajner M, Sirtori LR, Goulart L, Chiochetta M, Coelho D, et al. Evidence that oxidative stress is increased in patients with X-linked adrenoleukodystrophy. Biochim Biophys Acta. 2004;1688:26–32.

CAS  PubMed  Article  Google Scholar 

Uto T, Contreras MA, Gilg AG, Singh I. Oxidative imbalance in nonstimulated X-adrenoleukodystrophy-derived lymphoblasts. Dev Neurosci. 2008;30:410–8.

CAS  PubMed  Article  Google Scholar 

Di Biase A, Di Benedetto R, Fiorentini C, Travaglione S, Salvati S, Attorri L, et al. Free radical release in C6 glial cells enriched in hexacosanoic acid: Implication for X-linked adrenoleukodystrophy pathogenesis. Neurochem Int. 2004;44:215–21.

PubMed  Article  CAS  Google Scholar 

Hocquemiller M, Giersch L, Audrain M, Parker S, Cartier N. Adeno-associated virus-based gene therapy for CNS diseases. Hum Gene Ther. 2016;27:478–96.

CAS  PubMed  PubMed Central  Article  Google Scholar 

Chen Y, Zheng S, Tecedor L, Davidson BL. Overcoming limitations inherent in sulfamidase to improve mucopolysaccharidosis IIIa gene therapy. Mol Ther. 2018;26:1118–26.

CAS  PubMed  PubMed Central  Article  Google Scholar 

Fu H, Meadows AS, Ware T, Mohney RP, McCarty DM. Near-complete correction of profound metabolomic impairments corresponding to functional benefit in MPS IIIb mice after IV rAAV9-hNAGLU gene delivery. Mol Ther. 2017;25:792–802.

CAS  PubMed  PubMed Central  Article  Google Scholar 

Tardieu M, Zerah M, Husson B, de Bournonville S, Deiva K, Adamsbaum C, et al. Intracerebral administration of adeno-associated viral vector serotype rh.10 carrying human SGSH and SUMF1 cDNAs in children with mucopolysaccharidosis type IIIa disease: results of a phase I/II trial. Hum Gene Ther. 2014;25:506–16.

CAS  PubMed  Article  Google Scholar 

Liu W, Zhao L, Blackman B, Parmar M, Wong MY, Woo T, et al. Vectored intracerebral immunization with the anti-Tau monoclonal antibody PHF1 markedly reduces Tau pathology in mutant Tau transgenic mice. J Neurosci. 2016;36:12425–35.

CAS  PubMed 

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