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Hematopoietic Stem Cell Gene Therapy with a Lentiviral Vector in X-Linked Adrenoleukodystrophy
Open accessAbstract
Slowing Brain Disease with Gene Therapy: X-linked adrenoleukodystrophy (ALD), the hereditary brain demyelinating disorder that was featured in the movie “ Lorenzo's Oil ,” is typically treated by transplantation of bone marrow from matched donors. This treatment slows progression of the disease by introducing cells that differentiate into myelin-producing cells. Cartier et al. (p. 818 ; see Perspective by Naldini ) tested an alternative gene therapy–based approach in two young patients without matched donors. A lentiviral vector was used to introduce a wild-type copy of the ALD gene into the patients' hematopoietic stem cells ex vivo. The modified cells were then infused back into the patients. Expression of the transferred gene was still detectable in the patients' blood cells 2 years later, and both patients showed neurological improvement and a delay in disease progression comparable to that seen with bone marrow transplants.
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“Expansions of cells with a common integration site were observed in a gene therapy trial using lentiviral vectors for adrenoleukodystrophy [51].”
From Clinical use of lentiviral vectors (2018) · cites this paper as [51]
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In the citing paper
“Gene therapy is a cutting-edge approach that has shown potential in various genetic disorders, including X-ALD.”
From X-linked adrenoleukodystrophy and primary adrenal insufficiency (2023) · cites this paper as [48]
Experimental — accuracy not yet measuredThe cited source says what the claim attributes to it.
In the citing paper
“Allogenic hematopoietic stem cell transplantation [145,146] and autologous stem cell-based gene therapy [147] can arrest the inflammatory demyelinating process with a typical delay of 12–18 months, which has been attributed to the slow replacement of microglia with bone marrow-derived phagocytes [147,148].”
From Peroxisomes in brain development and function (2016) · cites this paper as [147]
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“Lentiviral vector-based gene transfer into CD34 + HSCs has subsequently been applied in the treatment of several genetic diseases, including β-thalassemia [67], X-linked adrenoleukodystrophy [51], metachromatic leukodystrophy [68, 69], and Wiskott-Aldrich Syndrome [70].”
From Clinical use of lentiviral vectors (2018) · cites this paper as [51]
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In the citing paper
“Early-stage treatment of childhood cerebral ALD with hematopoietic stem cell transplantation and, more recently, gene therapy can arrest disease progression if performed in the window of opportunity when the MRI is abnormal but neurological symptoms are not yet apparent [7,38,43,44,45,46,47,48,49,50].”
From Structure and Function of the ABCD1 Variant Database: 20 Years, 940 Pathogenic Variants, and 3400 Cases of Adrenoleukodystrophy (2022) · cites this paper as [50]
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“A lentiviral vector has been used to introduce a wild-type copy of the ABCD1 gene into the patients’ hematopoietic stem cells ex vivo. Subsequently, the genetically modified cells have been reintroduced into the patients (48).”
From X-linked adrenoleukodystrophy and primary adrenal insufficiency (2023) · cites this paper as [48]
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In the citing paper
“The positive results of HSC transplantation into cALD patients [24,356] indicated a role for brain microglia because microglia were thought to originate in bone marrow at that time [357].”
From Revisiting the Pathogenesis of X-Linked Adrenoleukodystrophy (2025) · cites this paper as [356]
In the citing paper
“In ALD, phagocytes derived from autologous bone marrow transplants likely elicit their beneficial effects by replacing mutant microglia, as they stall terminal neuro-inflammation and demyelination 42.”
From Efficient derivation of microglia-like cells from human pluripotent stem cells (2016) · cites this paper as [42]
In the citing paper
“This is strongly supported by the fact that both allogeneic hematopoietic stem cell (HSC) transplantation and autologous HSC gene therapy are very effective in arresting and even reversing neuroinflammatory cerebral ALD, provided that the procedure is performed at an early stage [101,102].”
From X-linked adrenoleukodystrophy: Clinical, metabolic, genetic and pathophysiological aspects (2012) · cites this paper as [102]
In the citing paper
“In 2009, autologous HSCT was demonstrated to be successful to halt cerebral demyelination in two boys with no compatible donors who received their own genetically corrected stem cells [ 82 ].”
From Peroxisomal ABC Transporters: An Update (2021) · cites this paper as [82]
In the citing paper
“These promising results suggest that such a therapeutic strategy may be as effective as allogeneic HSCT.”
From Peroxisomal ABC Transporters: An Update (2021) · cites this paper as [82]
In the citing paper
“the CD34+ PBMCs (lymphoid and myeloid progenitors) transduced with normal ABCD1 can efficiently correct the clinical phenotype of the X-ALD patients [ 82 ]”
From Peroxisomal ABC Transporters: An Update (2021) · cites this paper as [82]
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Citations
Cites
MicroRNAs: Target Recognition and Regulatory Functions
Bartel, D. P. (2009) · Cell · doi:10.1016/j.cell.2009.01.002 · Cited by 20,068
In Vivo Gene Delivery and Stable Transduction of Nondividing Cells by a Lentiviral Vector
Naldini, L., Blömer, U., Gallay, P., Ory, D., Mulligan, R., Gage, F. H., Verma, I. M., & Trono, D. (1996) · Science · doi:10.1126/science.272.5259.263 · Cited by 4,903
Korn, T., Bettelli, E., Oukka, M., & Kuchroo, V. K. (2009) · Annual Review of Immunology · doi:10.1146/annurev.immunol.021908.132710 · Cited by 4,873
LMO2 -Associated Clonal T Cell Proliferation in Two Patients after Gene Therapy for SCID-X1
Hacein-Bey-Abina, S., Von Kalle, C., Schmidt, M., McCormack, M. P., Wulffraat, N., Leboulch, P., Lim, A., Osborne, C. S., Pawliuk, R., Morillon, E., et al. (2003) · Science · doi:10.1126/science.1088547 · Cited by 3,587
Self-citationGene Therapy of Human Severe Combined Immunodeficiency (SCID)-X1 Disease
Cavazzana, M., Hacein‐Bey‐Abina, S., Basile, G. D. S., Gross, F., Yvon, E. S., Nusbaum, P., Selz, F., Hue, C., Dogniaux, S., Casanova, J., et al. (2000) · Science · doi:10.1126/science.288.5466.669 · Cited by 2,685
Self-citationProjection of an Immunological Self Shadow Within the Thymus by the Aire Protein
Anderson, M. S., Venanzi, E. S., Klein, L., Chen, Z.-B., Berzins, S., Turley, S., von Boehmer, H., Bronson, R., Dierich, A., Benoist, C., et al. (2002) · Science · doi:10.1126/science.1075958 · Cited by 2,582
HIV-1 Integration in the Human Genome Favors Active Genes and Local Hotspots
Schröder, A. R. W., Shinn, P., Chen, H., Berry, C., Ecker, J. R., & Bushman, F. (2002) · Cell · doi:10.1016/s0092-8674(02)00864-4 · Cited by 1,832
LNA-mediated microRNA silencing in non-human primates
Elmén, J., Lindow, M., Schütz, S., Lawrence, M., Petri, A., Obad, S., Lindholm, M., Hedtjärn, M., Hansen, H. F., Berger, U., et al. (2008) · Nature · doi:10.1038/nature06783 · Cited by 1,589
van Gent, R. N., Siem, D., van Middelkoop, M., van Os, A. G., Bierma‐Zeinstra, S., & Koes, B. W. (2007) · British Journal of Sports Medicine · doi:10.1136/bjsm.2006.033548 · Cited by 1,505
Viral vectors for gene therapy: the art of turning infectious agents into vehicles of therapeutics
Kay, M., Glorioso, J., & Naldini, L. (2001) · Nature Medicine · doi:10.1038/83324 · Cited by 1,444
Research works printed but not linked: 1
- Loes D. J., et al.., Am. J. Neuroradiol. 15, 1761 (1994).7847225
Cited by
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Items 301–400 of 1,000
Adrenoleukodystrophy in female heterozygotes: underrecognized and undertreated
Jangouk, P., Zackowski, K. M., Naidu, S., & Raymond, G. V. (2012) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2011.11.001 · Cited by 63
Hydrogels for lentiviral gene delivery
Seidlits, S. K., Gower, R. M., Shepard, J. A., & Shea, L. D. (2013) · Expert Opinion on Drug Delivery · doi:10.1517/17425247.2013.764864 · Cited by 63
“Several viral vectors are currently being tested in clinical trials for various therapies, including retroviruses, lentiviruses, adenoviruses and adeno-associated viruses (AAVs) [1-4,14,21-26].”
BackgroundLaunay, N., Ruíz, M., Grau, L., Ortega, F. J., Ilieva, E. V., Martínez, J. J., Galea, E., Ferrer, I., Knecht, E., Pujol, A., et al. (2016) · Acta Neuropathologica · doi:10.1007/s00401-016-1655-9 · Cited by 63
“Under normal conditions, these proteins would be degraded by the proteasome or autophagy routes, which may not occur in X-ALD as both systems are malfunctioning, as we have previously reported [8, 9].”
BackgroundCreating Higher Titer Lentivirus with Caffeine
Ellis, B. L., Potts, P. R., & Porteus, M. H. (2010) · Human Gene Therapy · doi:10.1089/hum.2010.068 · Cited by 65
Yannaki, E., Karponi, G., Zervou, F., Constantinou, V., Bouinta, A., Tachynopoulou, V., Kotta, K., Jonlin, E. C., Papayannopoulou, T., Anagnostopoulos, Α., et al. (2013) · Human Gene Therapy · doi:10.1089/hum.2013.163 · Cited by 63
“…inherited blood diseases; patients with X-linked SCID (Cavazzana-Calvo et al ., 2000), ADA deficiency (Aiuti et al. , 2009), adrenoleukodystrophy (Cartier et al. , 2009), meta-chromatic leukodystrophy (Biffi et al. , 2013), and Wiscott– Aldrich syndrome (Aiuti et al. , 2013), and one patient…”
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Kohan, R., Cismondi, I. A., Ramírez, A. M. O., Guelbert, N. B., Anzolini, V. T., Alonso, G., Mole, S., de Kremer, R. D., & de Halac, I. N. (2011) · Current Pharmaceutical Biotechnology · doi:10.2174/138920111795542633 · Cited by 61
Oliveira, S. N. D., Ryan, C., Giannoni, F., Hardee, C. L., Tremcinska, I., Katebian, B., Wherley, J., Sahaghian, A., Tu, A. A., Grogan, T., et al. (2013) · Human Gene Therapy · doi:10.1089/hum.2012.202 · Cited by 63
“, 2011) and X-linked adrenoleukodystrophy (Cartier et al., 2009).”
Non-viral therapeutic cell engineering with the Sleeping Beauty transposon system
Hudecek, M., & Ivics, Z. (2018) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2018.06.003 · Cited by 63
Human artificial chromosome-based gene delivery vectors for biomedicine and biotechnology
Kouprina, N., Tomilin, A. N., Masumoto, H., Earnshaw, W. C., & Larionov, V. (2014) · Expert Opinion on Drug Delivery · doi:10.1517/17425247.2014.882314 · Cited by 60
“So far, the vast majority of gene therapy clinical trials have exploited viral vectors such as retroviral, lentiviral, adenoviral and adeno-associated virus-based vectors [7-22].”
BackgroundMultiplexing clonality: combining RGB marking and genetic barcoding
Cornils, K., Thielecke, L., Hüser, S., Forgber, M., Thomaschewski, M., Kleist, N., Hussein, K., Riecken, K., Volz, T., Gerdes, S., et al. (2014) · Nucleic Acids Research · doi:10.1093/nar/gku081 · Cited by 61
“Alternatively, methods for high-throughput retrieval of insertions sites, such as ligation-mediated (LM) and linear-amplification-mediated PCR can be directly combined with next-generation sequencing (NGS) techniques for large-scale assessment and quantification of insertion sites (9,10).”
MethodMishra, P., Silva, A., Sharma, J., Nguyen, J., Pizzo, D. P., Hinz, D., Sahoo, D., & Cherqui, S. (2023) · Cell Reports · doi:10.1016/j.celrep.2023.112956 · Cited by 64
“52,53 In metachromatic leu-kodystrophy (MLD), differentiation of gene-modified HSPCs into functionally corrected microglia-like cells was shown following transplantation of gene-modified HSPCs, leading to cross-correction of the neighboring cells in murine models.”
Gene therapy for primary immunodeficiencies
Fischer, A., Hacein‐Bey‐Abina, S., Touzot, F., & Cavazzana, M. (2015) · Clinical Genetics · doi:10.1111/cge.12576 · Cited by 65
“It is noteworthy that in the meantime, LV vectors have been used clinically to modify HSCs from patients with other inherited disorders, including adrenoleukodystrophy (58), metachromatic leukodystrophy (52) and β thalassemia (59).”
BackgroundSelf-citationvon Jonquieres, G., Fröhlich, D., Klugmann, C. B., Wen, X., Harasta, A. E., Ramkumar, R., Spencer, Z. H. T., Housley, G. D., & Klugmann, M. (2016) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2016.00013 · Cited by 61
“…matter disorders caused by genetic deficiencies in oligodendrocyte proteins, have been trialled successfully by ex vivo gene therapy acting via cross-correction of dysfunctional oligodendrocytes by uptake of graft-derived, secreted transgene products (Cartier et al., 2009; Biffi et al., 2013).”
BackgroundMallack, E. J., Gao, K., Engelen, M., & Kemp, S. (2022) · Cells · doi:10.3390/cells11020283 · Cited by 60
Therapeutic gene editing in CD34+ hematopoietic progenitors from Fanconi anemia patients
Díez, B., Genovese, P., Roman‐Rodriguez, F. J., Alvarez, L. A., Schiroli, G., Ugalde, L., Rodríguez, S., Sevilla, J., de Heredia, C. D., Holmes, M. C., et al. (2017) · EMBO Molecular Medicine · doi:10.15252/emmm.201707540 · Cited by 59
“…obtained in these rare precursor cells are still far from transduction rates already achieved with gamma-retroviral and lentiviral vectors (Cartier et al, 2009; Cavazzana-Calvo et al, 2010; Aiuti et al, 2013; Biffi et al, 2013; Hacein-Bey-Abina et al, 2014) Consequently, clinical…”
BackgroundLentiviral Vector Induced Insertional Haploinsufficiency of Ebf1 Causes Murine Leukemia
Heckl, D., Schwarzer, A., Haemmerle, R., Steinemann, D., Rudolph, C., Skawran, B., Knoess, S., Krause, J., Li, Z., Schlegelberger, B., et al. (2012) · Molecular Therapy · doi:10.1038/mt.2012.59 · Cited by 62
The neuroendocrine control of the innate immune system in health and brain diseases
Bellavance, M., & Rivest, S. (2012) · Immunological Reviews · doi:10.1111/j.1600-065x.2012.01129.x · Cited by 61
Lampron, A., Lessard, M., & Rivest, S. (2012) · Cell Transplantation · doi:10.3727/096368911x593154 · Cited by 65
Larochelle, A., Bellavance, M., Michaud, J.-P., & Rivest, S. (2015) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2015.09.017 · Cited by 60
Turgeon, C. T., Moser, A. B., Mørkrid, L., Magera, M. J., Gavrilov, D. K., Oglesbee, D., Raymond, K., Rinaldo, P., Matern, D., & Tortorelli, S. (2015) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2014.11.013 · Cited by 60
Torres‐Torronteras, J., Gómez, A., Eixarch, H., Palenzuela, L., Pizzorno, G., Hirano, M., Andreu, A. L., Barquinero, J., & Martí, R. (2011) · Gene Therapy · doi:10.1038/gt.2011.24 · Cited by 59
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Gray, S. J. (2012) · Neuropharmacology · doi:10.1016/j.neuropharm.2012.06.024 · Cited by 61
Weisfeld‐Adams, J. D., Sand, I. K., Honce, J. M., & LUBLIN, F. D. (2015) · Brain · doi:10.1093/brain/awu397 · Cited by 59
Gene therapy matures in the clinic
Seymour, L. W., & Thrasher, A. J. (2012) · Nature Biotechnology · doi:10.1038/nbt.2290 · Cited by 59
Pseudotyping Lentiviral Vectors: When the Clothes Make the Virus
Duvergé, A., & Negroni, M. (2020) · Viruses · doi:10.3390/v12111311 · Cited by 65
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BackgroundWanders, R. J. A. (2013) · Sub-cellular biochemistry/Subcellular biochemistry · doi:10.1007/978-94-007-6889-5_2 · Cited by 58
Shao, K., Koch, C., Gupta, M. K., Lin, Q., Lenz, M., Laufs, S., Denecke, B., Schmidt, M., Linke, M., Hennies, H., et al. (2013) · Molecular Therapy · doi:10.1038/mt.2012.207 · Cited by 58
Self-citationMerienne, N., Douce, J. L., Faivre, E., Déglon, N., & Bonvento, G. (2013) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2013.00106 · Cited by 58
“…3 “fncel-07-00106” — 2013/7/3 — 20:28 — page 4 — #4 immunological improvement occurred in the two treated children aged 9–12 months in combination with a blockage of the demyelinating lesions observed by magnetic resonance imaging (MRI), 12–16 months after gene therapy (Cartier et al., 2009, 2012).”
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Dalal, I., & Tasher (2012) · The Application of Clinical Genetics · doi:10.2147/tacg.s18693 · Cited by 59
“Results are beginning to accumulate for clinical trials using new viral vectors 77 and the first clinical trial using a targeted approach has been initiated.”
Petrillo, C., Cesana, D., Piras, F., Bartolaccini, S., Naldini, L., Montini, E., & Kajaste‐Rudnitski, A. (2014) · Molecular Therapy · doi:10.1038/mt.2014.193 · Cited by 60
“6 Nevertheless, suboptimal target cell permissivity still imposes the use of multiple hits of high vector doses and prolonged ex vivo culture to reach the high transduction levels observed in some of the recent LV-based clinical trials.”
Almarza, D., Bussadori, G., Navarro, M., Mavilio, F., Larcher, F., & Murillas, R. (2011) · Gene Therapy · doi:10.1038/gt.2011.12 · Cited by 56
Generation of Healthy Mice from Gene-Corrected Disease-Specific Induced Pluripotent Stem Cells
Wu, G., Liu, N., Rittelmeyer, I., Sharma, A. D., Sgodda, M., Zaehres, H., Bleidißel, M., Greber, B., Gentile, L., Han, D., et al. (2011) · PLoS Biology · doi:10.1371/journal.pbio.1001099 · Cited by 57
Successful Preclinical Development of Gene Therapy for Recombinase-Activating Gene-1-Deficient SCID
García-Pérez, L., van Eggermond, M. C. J. A., van Roon, L., Vloemans, S. A., Cordes, M., Schambach, A., Rothe, M., Berghuis, D., Lagresle‐Peyrou, C., Cavazzana, M., et al. (2020) · Molecular Therapy — Methods & Clinical Development · doi:10.1016/j.omtm.2020.03.016 · Cited by 60
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MethodLattanzi, A., Salvagno, C., Maderna, C., Benedicenti, F., Morena, F., Kulik, W., Naldini, L., Montini, E., Martino, S., & Gritti, A. (2014) · Human Molecular Genetics · doi:10.1093/hmg/ddu034 · Cited by 57
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BackgroundNup153 and Nup98 bind the HIV-1 core and contribute to the early steps of HIV-1 replication
Nunzio, F. D., Fricke, T., Miccio, A., Valle-Casuso, J., Perez, P., Souque, P., Rizzi, E., Severgnini, M., Mavilio, F., Charneau, P., et al. (2013) · Retrovirology · doi:10.1186/1742-4690-10-s1-p111 · Cited by 171
“A further PCR step was performed to include sample specific barcodes for parallel sequencing using the 454/Roche pyrosequencing platform as previously described (Cartier et al., 2009; Cattoglio et al., 2007, 2010).”
MethodLévy, C., Amirache, F., Girard-Gagnepain, A., Frecha, C. A., Roman‐Rodriguez, F. J., Bernadin, O., Costa, C., Négre, D., Gutiérrez-Guerrero, A., Vranckx, L. S., et al. (2017) · Blood Advances · doi:10.1182/bloodadvances.2017007773 · Cited by 58
Doering, C. B., Denning, G., Shields, J. E., Fine, E. J., Parker, E. T., Srivastava, A., Lollar, P., & Spencer, H. T. (2018) · Human Gene Therapy · doi:10.1089/hum.2018.137 · Cited by 56
Fourcade, S., López-Erauskin, J., Ruiz, M., Ferrer, I., & Pujol, A. (2014) · Biochimie · doi:10.1016/j.biochi.2013.09.012 · Cited by 55
Polyclonal fluctuation of lentiviral vector–transduced and expanded murine hematopoietic stem cells
Maetzig, T., Brugman, M. H., Bartels, S., Heinz, N., Kustikova, O. S., Modlich, U., Li, Z., Galla, M., Schiedlmeier, B., Schambach, A., et al. (2011) · Blood · doi:10.1182/blood-2010-08-303222 · Cited by 56
Coluccio, A., Miselli, F., Lombardo, A., Marconi, A., Tagliazucchi, G. M., Gonçalves, M. A. F. V., Pincelli, C., Maruggi, G., Río, M. D., Naldini, L., et al. (2013) · Molecular Therapy · doi:10.1038/mt.2013.143 · Cited by 56
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Ranea‐Robles, P., Launay, N., Ruíz, M., Calingasan, N. Y., Dumont, M., Naudí, A., Portero‐Otín, M., Pamplona, R., Ferrer, I., Beal, M. F., et al. (2018) · EMBO Molecular Medicine · doi:10.15252/emmm.201708604 · Cited by 55
“Current therapeutic options are restricted to bone marrow transplantation (Miller et al, 2011) and hematopoietic stem cell gene therapy (Cartier et al, 2009; Eichler et al, 2017), and are limited by a very narrow therapeutic window, which reinforces the need to develop additional therapies for this…”
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“This was observed in the adrenoleukodystrophy (ALD) trial (Cartier et al., 2009), in which up to 10% of all hematopoietic lineages were found to”
Self-citationLentiviral Vector Integration Profiles Differ in Rodent Postmitotic Tissues
Bartholomae, C. C., Arens, A., Balaggan, K. S., Yáñez‐Muñoz, R. J., Montini, E., Howe, S. J., Paruzynski, A., Korn, B., Appelt, J. U., MacNeil, A., et al. (2011) · Molecular Therapy · doi:10.1038/mt.2011.19 · Cited by 54
Self-citationLeukodystrophies with late disease onset: an update
Köhler, W. (2010) · Current Opinion in Neurology · doi:10.1097/wco.0b013e328338313a · Cited by 54
Verheijden, S., Bottelbergs, A., Krysko, O., Krysko, D. V., Beckers, L., De Munter, S., Van Veldhoven, P. P., Wyns, S., Kulik, W., Nave, K.-A., et al. (2013) · Neurobiology of Disease · doi:10.1016/j.nbd.2013.06.006 · Cited by 54
Chan, W. K., Suwannasaen, D., Throm, R. E., Li, Y., Eldridge, P. W., Houston, J., Gray, J. T., Pui, C.-H., & Leung, W. H. (2014) · Leukemia · doi:10.1038/leu.2014.174 · Cited by 55
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Bernardo, M. E., & Aiuti, A. (2016) · Human Gene Therapy · doi:10.1089/hum.2016.103 · Cited by 56
Maricque, B. B., Dougherty, J. D., & Cohen, B. A. (2016) · Nucleic Acids Research · doi:10.1093/nar/gkw942 · Cited by 57
Llewellyn, G. N., Alvarez-Carbonell, D., Chateau, M., Karn, J., & Cannon, P. M. (2017) · Journal of NeuroVirology · doi:10.1007/s13365-017-0604-2 · Cited by 55
Hwang, B.-Y., & Schaffer, D. V. (2013) · Gene Therapy · doi:10.1038/gt.2013.1 · Cited by 54
Wakabayashi, T., Shimada, Y., Akiyama, K., Higuchi, T., Fukuda, T., Kobayashi, H., Eto, Y., Ida, H., & Ohashi, T. (2015) · Human Gene Therapy · doi:10.1089/hum.2014.158 · Cited by 54
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Genin, E. C., Geillon, F., Gondcaille, C., Athias, A., Gambert, P., Trompier, D., & Savary, S. (2011) · Journal of Biological Chemistry · doi:10.1074/jbc.m110.211912 · Cited by 53
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Helman, G., van Haren, K. P., Bonkowsky, J. L., Bernard, G., Pizzino, A. M., Braverman, N., Suhr, D., Patterson, M. C., Fatemi, A. S., Leonard, J., et al. (2015) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2015.01.014 · Cited by 55
“…gene therapy has shown encouraging results in ALD patients where its use has resulted in polyclonal hematopoietic repopulation, stable transgene expression, and stabilization or reversal of demyelination [9] and is entering phase II/III clinical trials (ClinicalTrials.gov identifier: NCT01896102).”
Raas, Q., Gondcaille, C., Hamon, Y., Leoni, V., Caccia, C., Ménétrier, F., Lizard, G., Trompier, D., & Savary, S. (2019) · Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids · doi:10.1016/j.bbalip.2019.02.006 · Cited by 53
Ghaleh, H. E. G., Bolandian, M., Dorostkar, R., Jafari, A., & Pour, M. F. (2020) · Biomedicine & Pharmacotherapy · doi:10.1016/j.biopha.2020.110276 · Cited by 55
Verma, I. M. (2013) · Science · doi:10.1126/science.1242551 · Cited by 55
Design and potential of non-integrating lentiviral vectors
Shaw, A., & Cornetta, K. (2014) · Biomedicines · doi:10.3390/biomedicines2010014 · Cited by 60
“For example, early clinical trials have shown evidence of disease correction or delay of onset including treatment for thalassemia, adrenoleukodystrophy, chronic lymphocytic leukemia, metachromatic leukodystrophy, and Wiskott Aldrich syndrome [9–13].”
BackgroundLipophosphonate/lipophosphoramidates: A family of synthetic vectors efficient for gene delivery
Berchel, M., Gall, T. L., Couthon‐Gourvès, H., Haelters, J., Montier, T., Midoux, P., Lehn, P., & Jaffrès, P. (2011) · Biochimie · doi:10.1016/j.biochi.2011.07.026 · Cited by 55
Yadak, R., Smitt, P. A. E. S., van Gisbergen, M. W., van Til, N. P., & de Coo, I. F. M. (2017) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2017.00031 · Cited by 54
“Since then, SIN-LV vectors have been applied successfully in ongoing clinical trials for a variety of metabolic (Cartier et al., 2009; Biffi et al., 2013) and immunodeficiency disorders (Aiuti et al., 2013), and no adverse events have yet been reported in these trials.”
BackgroundLee, C. A. A., Seo, H. S., Armien, A. G., Bates, F. S., Tolar, J., & Azarin, S. M. (2018) · Fluids and Barriers of the CNS · doi:10.1186/s12987-018-0094-5 · Cited by 52
Gene therapy for monogenic disorders of the bone marrow
Ghosh, S., Thrasher, A. J., & Gaspar, H. B. (2015) · British Journal of Haematology · doi:10.1111/bjh.13520 · Cited by 53
Long-term lineage commitment in haematopoietic stem cell gene therapy
Calabria, A., Spinozzi, G., Cesana, D., Buscaroli, E., Benedicenti, F., Pais, G., Gazzo, F., Scala, S., Lidonnici, M. R., Scaramuzza, S., et al. (2024) · Nature · doi:10.1038/s41586-024-08250-x · Cited by 55
“On the other hand, in other diseases such as chronic granulomatous disease, a progressive phagocytic disorder or leukodystrophies and lysosomal storage disorders 2,3,9,20–22 no selective advantage in growth or survival was observed in any cell lineage.”
Autophagy induction halts axonal degeneration in a mouse model of X-adrenoleukodystrophy
Launay, N., Aguado, C., Fourcade, S., Ruíz, M., Grau, L., Riera, J., Guilera, C., Girós, M., Ferrer, I., Knecht, E., et al. (2014) · Acta Neuropathologica · doi:10.1007/s00401-014-1378-8 · Cited by 55
“Therapeutic advances include allogeneic bone marrow transplant [2] and gene therapy [9]; although, these therapies can only be applied to a subset of patients upon demyelination onset within a narrow window of opportunity.”
BackgroundSalpietro, V., Polizzi, A., Rosa, G. D., Romeo, A. C., Dipasquale, V., Morabito, P., Chirico, V., Arrigo, T., & Ruggieri, M. (2014) · International Journal of Endocrinology · doi:10.1155/2014/282489 · Cited by 52
Poletti, V., Charrier, S., Corre, G., Gjata, B., Vignaud, A., Zhang, F., Rothe, M., Schambach, A., Gaspar, H. B., Thrasher, A. J., et al. (2018) · Molecular Therapy — Methods & Clinical Development · doi:10.1016/j.omtm.2018.03.002 · Cited by 51
Colella, P., Sayana, R., Suárez-Nieto, M. V., Sarno, J., Nyame, K., Xiong, J., Vera, L. N. P., Basurto, J. A., Corbo, M., Limaye, A., et al. (2024) · Nature Communications · doi:10.1038/s41467-024-49908-4 · Cited by 56
Brain pericyte plasticity as a potential drug target in CNS repair
Lange, S., Trost, A., Tempfer, H., Bauer, H., Bauer, H., Rohde, E., Reitsamer, H. A., Franklin, R. J. M., Aigner, L., & Rivera, F. J. (2012) · Drug Discovery Today · doi:10.1016/j.drudis.2012.12.007 · Cited by 50
Corrigan‐Curay, J., Cohen‐Haguenauer, O., O’Reilly, M., Ross, S. R., Fan, H., Rosenberg, N. E., Somia, N. V., King, N. M. P., Friedmann, T., Dunbar, C. E., et al. (2012) · Molecular Therapy · doi:10.1038/mt.2012.93 · Cited by 51
Meneghini, V., Lattanzi, A., Tiradani, L., Bravo, G., Morena, F., Sanvito, F., Calabria, A., Bringas, J., Fisher‐Perkins, J. M., Dufour, J., et al. (2016) · EMBO Molecular Medicine · doi:10.15252/emmm.201505850 · Cited by 53
“However, this mechanism has not been associated with cell transformation in the follow-up of HSC gene therapy trials, in which no adverse genotoxic events have been shown to date (Cartier et al, 2009; Aiuti et al, 2013; Biffi et al, 2013).”
Endocrine Dysfunction in X-Linked Adrenoleukodystrophy
Burtman, E., & Regelmann, M. O. (2016) · Endocrinology and Metabolism Clinics of North America · doi:10.1016/j.ecl.2016.01.003 · Cited by 52
Schott, J. W., León‐Rico, D., Ferreira, C. B., Buckland, K. F., Santilli, G., Armant, M. A., Schambach, A., Cavazza, A., & Thrasher, A. J. (2019) · Molecular Therapy — Methods & Clinical Development · doi:10.1016/j.omtm.2019.05.015 · Cited by 54
Gene Therapy Developments for Pompe Disease
Unnisa, Z., Yoon, J. K., Schindler, J. W., Mason, C., & van Til, N. P. (2022) · Biomedicines · doi:10.3390/biomedicines10020302 · Cited by 53
Nanoplatform‐Based In Vivo Gene Delivery Systems for Cancer Therapy
Luo, R., Le, H., Wu, Q., & Gong, C. (2024) · Small · doi:10.1002/smll.202312153 · Cited by 50
Innovative therapy for Classic Galactosemia — Tale of two HTS
Tang, M., Odejinmi, S. I., Vankayalapati, H., Wierenga, K. J., & Lai, K. (2011) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2011.09.028 · Cited by 51
“Examples of this approach are gene therapies for adenosine deaminase (ADA) deficiency [64,65], Leber's congenital amaurosis [66], X-linked adrenoleukodystrophy (ALD) [67] and lysosomal storage diseases [68].”
Consensus statement on preventive and symptomatic care of leukodystrophy patients
van Haren, K. P., Bonkowsky, J. L., Bernard, G., Murphy, J. L., Pizzino, A. M., Helman, G., Suhr, D., Waggoner, J., Hobson, D., Vanderver, A. L., et al. (2014) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2014.12.433 · Cited by 49
Stem cell transplantation for neurometabolic and neurodegenerative diseases
Shihabuddin, L. S., & Aubert, I. (2009) · Neuropharmacology · doi:10.1016/j.neuropharm.2009.12.015 · Cited by 49
Stem cell-based anti-HIV gene therapy
Kitchen, S. G., Shimizu, S., & An, D. S. (2011) · Virology · doi:10.1016/j.virol.2010.12.039 · Cited by 50
Predicting clonal self-renewal and extinction of hematopoietic stem cells
Sieburg, H. B., Rezner, B., & Müller‐Sieburg, C. E. (2011) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1011414108 · Cited by 49
A single epidermal stem cell strategy for safe ex vivo gene therapy
Lathion, S., Rochat, A., Knott, G. W., Recchia, A., Martinet, D., Benmohammed, S., Grasset, N., Zaffalon, A., Schmutz, N. B., Savioz-Dayer, E., et al. (2015) · EMBO Molecular Medicine · doi:10.15252/emmm.201404353 · Cited by 49
“…trials using genetically corrected human bone marrow stem cells to treat patients suffering from X-linked severe combined immunodeficiency (SCID) (Hacein-BeyAbina et al, 2002), X-linked adrenoleukodystrophy (ALD) (Cartier et al, 2009) and SCID-adenosine deaminase (ADA-SCID) (Aiuti et al, 2009).”
BackgroundMethodWang, H., Richter, M., Psatha, N., Li, C., Kim, J., Liu, J., Ehrhardt, A., Nilsson, S. K., Cao, B., Palmer, D. J., et al. (2017) · Molecular Therapy — Methods & Clinical Development · doi:10.1016/j.omtm.2017.11.004 · Cited by 49
Membrane-Encapsulated Camouflaged Nanomedicines in Drug Delivery
Ghosh, S., Girigoswami, K., & Girigoswami, A. (2019) · Nanomedicine · doi:10.2217/nnm-2019-0155 · Cited by 49
Ex vivo editing of human hematopoietic stem cells for erythroid expression of therapeutic proteins
Pavani, G., Laurent, M., Fabiano, A., Cantelli, E., Sakkal, A., Corre, G., Lenting, P. J., Concordet, J., Toueille, M., Miccio, A., et al. (2020) · Nature Communications · doi:10.1038/s41467-020-17552-3 · Cited by 54
Advances in stem cell transplantation and gene therapy in the β-hemoglobinopathies
Payen, E., & Leboulch, P. (2012) · Hematology · doi:10.1182/asheducation.v2012.1.276.3807841 · Cited by 53
Self-citationRetroviral Vectors for Gene Therapy
Maier, P., Kalle, C. V., & Laufs, S. (2010) · Future Microbiology · doi:10.2217/fmb.10.100 · Cited by 51
Lentiviral Vector Gene Therapy: Effective and Safe?
Persons, D. A. (2010) · Molecular Therapy · doi:10.1038/mt.2010.70 · Cited by 49
Baarine, M., Beeson, C., Singh, A. K., & Singh, I. (2014) · Journal of Neurochemistry · doi:10.1111/jnc.12992 · Cited by 48
“…of VLCFA elongation, hematopoietic stem cell transplantation, antioxidant therapy and recently described lentivirals therapy, lentiviral gene therapy (Aubourg et al. 1990; Singh et al. 1998; Moser et al. 2005; Deon et al. 2008; Cartier et al. 2009; Mastroeni et al. 2009; Fourcade et al. 2010).”
Physiological and tissue-specific vectors for treatment of inherited diseases
Toscano, M. G., Romero, Z. G., Muñoz, P., Cobo, M., Benabdellah, K., & Martín, F. (2010) · Gene Therapy · doi:10.1038/gt.2010.138 · Cited by 48
Connelly, J. P., Barker, J. C., Pruett‐Miller, S. M., & Porteus, M. H. (2010) · Molecular Therapy · doi:10.1038/mt.2010.57 · Cited by 49
Retroviral Vectors: Post Entry Events and Genomic Alterations
Nowrouzi, A., Glimm, H., Kalle, C. V., & Schmidt, M. (2011) · Viruses · doi:10.3390/v3050429 · Cited by 48
Self-citationAshrafi, M. R., & Tavasoli, A. R. (2017) · Brain and Development · doi:10.1016/j.braindev.2017.01.001 · Cited by 48
Gene therapy targeting oligodendrocytes provides therapeutic benefit in a leukodystrophy model
Georgiou, E., Sidiropoulou, K., Richter, J., Papaneophytou, C. P., Sargiannidou, I., Kagiava, A., von Jonquières, G., Christodoulou, C., Klugmann, M., & Kleopa, K. A. (2016) · Brain · doi:10.1093/brain/aww351 · Cited by 48
Survivin-Based Treatment Strategies for Squamous Cell Carcinoma
Santarelli, A., Mascitti, M., Russo, L. L., Sartini, D., Troiano, G., Emanuelli, M., & Muzio, L. L. (2018) · International Journal of Molecular Sciences · doi:10.3390/ijms19040971 · Cited by 47
“Other viral vectors, including adeno-associated virus, vaccinia virus, and lentivirus, have been extensively tested in preclinical studies [119], but clinical trials are still few [120].”
BackgroundAnthony-Gonda, K., Ray, A. K., Su, H., Wang, Y., Xiong, Y., Lee, D. M., Block, A., Chilunda, V., Weiselberg, J., Zemelko, L., et al. (2022) · JCI Insight · doi:10.1172/jci.insight.161698 · Cited by 47
“genes in hematopoietic-derived cells (34, 35).”
A Low Protein Binding Cationic Poly(2‐oxazoline) as Non‐Viral Vector
He, Z., Miao, L., Jordan, R., Manickam, D. S., Luxenhofer, R., & Kabanov, A. V. (2015) · Macromolecular Bioscience · doi:10.1002/mabi.201500021 · Cited by 46
Greene, M. R., Lockey, T. D., Mehta, P. K., Kim, Y., Eldridge, P. W., Gray, J. T., & Sorrentino, B. P. (2012) · Human Gene Therapy Methods · doi:10.1089/hgtb.2012.150 · Cited by 50
“Our transduction results also compare favorably with published lentiviral trials targeting CD34 + cells for X-linked adrenoleukodystrophy (ALD)(Cartier et al., 2009; Cartier et al., 2012), b-Thalassemia (Cavazzana-Calvo et al., 2010), and Wiskott-Aldrich Syndrome (WAS) (Merten et al., 2011; Scaramuzza et al., 2012).”
MethodResultInfluentialBarde, I., Laurenti, E., Verp, S., Wiznerowicz, M., Offner, S., Viornery, A., Galy, A. H. M., Trumpp, A., & Trono, D. (2011) · Gene Therapy · doi:10.1038/gt.2011.65 · Cited by 47
Sargiannidou, I., Kagiava, A., Bashiardes, S., Richter, J., Christodoulou, C., Scherer, S. S., & Kleopa, K. A. (2015) · Annals of Neurology · doi:10.1002/ana.24441 · Cited by 47
Shock wave-induced permeabilization of mammalian cells
Lopez-Marin, L. M., Rivera, A. L., Fernández, F., & Loske, A. M. (2018) · Physics of Life Reviews · doi:10.1016/j.plrev.2018.03.001 · Cited by 49
Recent trends in mucopolysaccharidosis research
Kobayashi, H. (2018) · Journal of Human Genetics · doi:10.1038/s10038-018-0534-8 · Cited by 51
Emerging technologies to study glial cells
Hirbec, H., Déglon, N., Foo, L. C., Goshen, I., Grutzendler, J., Hangen, E., Kreisel, T., Linck, N., Muffat, J., Regio, S., et al. (2020) · Glia · doi:10.1002/glia.23780 · Cited by 51
“The potential and safety of viral vectors is highlighted by the ongoing CNS clinical trials (Cartier et al., 2009; Hudry & Vandenberghe, 2019; Palfi et al., 2018) and the recent approval of Zolgensma (AAV9-SMN) for the treatment of spinal muscular atrophy (Mendell et al., 2017).”
Background
Metadata
- Authors
- Cartier, N., Hacein-Bey-Abina, S., Bartholomae, C. C., Veres, G., Schmidt, M., Kutschera, I., Vidaud, M., Abel, U., Dal-Cortivo, L., Caccavelli, L., Mahlaoui, N., Kiermer, V., Mittelstaedt, D., Bellesme, C., Lahlou, N., Lefrère, F., Blanche, S., Audit, M., Payen, E., Leboulch, P., l’Homme, B., Bougnères, P., Von Kalle, C., Fischer, A., Cavazzana-Calvo, M., & Aubourg, P.
- Affiliations
- Inserm (FR)
- Department of Biotherapy, Hôpital Necker-Enfants Malades, 75743 Paris, France.
- German Cancer Research Center (DE)
- 117 Southwest 72nd Place, Gainesville, FL 32608, USA.
- Hôpital Necker-Enfants Malades (FR)
- Nature Publishing Group, New York, NY 10013–1917, USA.
- 13687 Quinton Road, San Diego, CA 92129, USA.
- Assistance Publique – Hôpitaux de Paris (FR)
- Hôpital Saint-Vincent-de-Paul (FR)
- GenoSafe (FR)
- Brigham and Women's Hospital (US)
- Department of Pediatric Endocrinology and Neurology, Hôpital Saint-Vincent de Paul, Assistance Publique–Hôpitaux de Paris, 82 Avenue Denfert-Rochereau, 75674 Paris, France.
- National Center for Tumor Diseases and German Cancer Research Center (Deutsches Krebsforschungszentrum), 69120 Heidelberg, Germany.
- Corresponding author
- Cartier, Nathalie
- Aubourg, Patrick
- ORCID
- Venue
- Science
- Published
- 2009-11-06
- Volume
- 326
- Issue
- 5954
- Pages
- 818-823
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W2141570423
- Cited by
- 1,508
- References
- 40
- Citations by year
- 2026: 25 · 2025: 43 · 2024: 54 · 2023: 50 · 2022: 62 · 2021: 56 · 2020: 71 · 2019: 61 · 2018: 76 · 2017: 96 · 2016: 98 · 2015: 107 · 2014: 130 · 2013: 137 · 2012: 139
- FWCI
- 84.34
- Type
- journal article
- Language
- en
- Open access
- green
- cea.hal.science
- Licence
- other-oa
- Locations
- Science (publishedVersion)
- PubMed (publishedVersion)
- HAL (submittedVersion, other-oa)
- Funders
- Deutsche Forschungsgemeinschaft (SPP 1230)
- Institut National de la Santé et de la Recherche Médicale
- Fondation de France
- Association Européenne contre les Leucodystrophies
- Assistance publique-Hôpitaux de Paris
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Virus-based gene therapy research
- Health Sciences › Medicine › Genetics (clinical) › Lysosomal Storage Disorders Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Keywords
- X-linked adrenoleukodystrophy, hematopoietic stem cell gene therapy, lentiviral vectors, ABCD1 gene, myeloablative conditioning, demyelination
- MeSH terms
- ATP Binding Cassette Transporter, Subfamily D, Member 1, Adrenoleukodystrophy, Animals, Brain, Cell Differentiation, Child, Fatty Acids, Female, Genetic Vectors, Hematopoiesis, Hematopoietic Stem Cells, Humans, Leukocytes, Mononuclear, Male, Transduction, Genetic, Transplantation, Autologous, Genetic Therapy, HIV-1, Gene Expression, Virus Integration, Microglia, Hematopoietic Stem Cell Transplantation, Disease Progression, ATP-Binding Cassette Transporters, Cell Lineage, Transplantation Conditioning, Myeloablative Agonists, Mice
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