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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
“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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In the citing paper
“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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“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
“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]
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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Genetically modified mesenchymal stromal cells in cancer therapy
Sage, E. K., Thakrar, R. M., & Janes, S. M. (2016) · Cytotherapy · doi:10.1016/j.jcyt.2016.09.003 · Cited by 118
“[67] Cartier N, Hacein-Bey-Abina S, Bartholomae CC, Veres G,”
Genetic targeting of microglia
Wieghofer, P., Knobeloch, K., & Prinz, M. (2014) · Glia · doi:10.1002/glia.22727 · Cited by 118
“While successful reconstitution was confirmed in the blood, the direct proof for a CNS engraftment was not shown despite the fact that it is most likely present (Cartier et al., 2009).”
BackgroundHuman artificial chromosomes for gene delivery and the development of animal models
Kazuki, Y., & Oshimura, M. (2011) · Molecular Therapy · doi:10.1038/mt.2011.136 · Cited by 108
New developments in lentiviral vector design, production and purification
Segura, M. M., Mangion, M., Gaillet, B., & Garnier, A. (2013) · Expert Opinion on Biological Therapy · doi:10.1517/14712598.2013.779249 · Cited by 127
“For instance, these vectors have been used with success to generate IPS cells [185-187] and are promising tools for gene therapy [28,30].”
MethodThe Self-Inactivating KamiCas9 System for the Editing of CNS Disease Genes
Mérienne, N., Vachey, G., de Longprez, L., Meunier, C., Zimmer, V., Perriard, G., Canales, M., Mathias, A., Herrgott, L., Beltraminelli, T., et al. (2017) · Cell Reports · doi:10.1016/j.celrep.2017.08.075 · Cited by 122
CRISPR/Cas9 Genome-Editing System in Human Stem Cells: Current Status and Future Prospects
Zhang, Z., Zhang, Y., Gao, F., Han, S., Cheah, K. S. E., Tse, H., & Lian, Q. (2017) · Molecular Therapy — Nucleic Acids · doi:10.1016/j.omtn.2017.09.009 · Cited by 122
“This was sufficient for cell transplantation and avoided the difficulties caused by random integration in lentivirus or retrovirusmeditated gene therapy.(60,61) CRISPR/Cas9-mediated gene correction has become a principal therapeutic strategy in the study of genetic diseases such as b-thalassemia, Duchenne muscular dys…”
BackgroundKofler, J., & Wiley, C. A. (2010) · Toxicologic Pathology · doi:10.1177/0192623310387619 · Cited by 122
Stem cell gene therapy: the risks of insertional mutagenesis and approaches to minimize genotoxicity
Wu, C., & Dunbar, C. E. (2011) · Frontiers of Medicine · doi:10.1007/s11684-011-0159-1 · Cited by 114
“However, as detailed above, despite these safety features and the encouraging highly polyclonal integration pattern of lentiviral vectors in the X-ALD trial, the single patient in the β-thalassemia trial developed marked clonal dominance of cells with lentiviral vector-induced aberrant splicing and activation of the H…”
BackgroundInfluentialRecent progresses in gene delivery-based bone tissue engineering
Lu, C.-H., Chang, Y., Lin, S.-Y., Li, K., & Hu, Y. (2013) · Biotechnology Advances · doi:10.1016/j.biotechadv.2013.08.015 · Cited by 114
“Use of lentivirus for ex vivo transduction of CD34+ cells has entered into clinical trials for the treatment of patients with X-linked adrenoleukodystrophy (ALD).”
BackgroundMethodInfluentialGenetic Engineering of Hematopoiesis for Targeted IFN-α Delivery Inhibits Breast Cancer Progression
Escobar, G., Moi, D., Ranghetti, A., Baydin, P. O., Squadrito, M. L., Kajaste‐Rudnitski, A., Bondanza, A., Gentner, B., Palma, M. D., Mazzieri, R., et al. (2014) · Science Translational Medicine · doi:10.1126/scitranslmed.3006353 · Cited by 114
Gutiérrez-Guerrero, A., Cosset, F., & Verhoeyen, E. (2020) · Viruses · doi:10.3390/v12091016 · Cited by 123
Nowrouzi, A., Penaud‐Budloo, M., Kaeppel, C., Appelt, U., Guiner, C. L., Moullier, P., Kalle, C. V., Snyder, R. O., & Schmidt, M. (2012) · Molecular Therapy · doi:10.1038/mt.2012.47 · Cited by 119
Self-citationBeard, B. C., Trobridge, G. D., Ironside, C. M., McCune, J. S., Adair, J. E., & Kiem, H. (2010) · Journal of Clinical Investigation · doi:10.1172/jci40767 · Cited by 111
Central nervous system myeloid cells as drug targets: current status and translational challenges
Biber, K. P. H., Möller, T., Boddeke, E., & Prinz, M. (2015) · Nature Reviews Drug Discovery · doi:10.1038/nrd.2015.14 · Cited by 111
Baruteau, J., Waddington, S. N., Alexander, I. E., & Gissen, P. (2017) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-017-0053-3 · Cited by 111
“…diseases such as Leber’s congenital amaurosis (Bainbridge et al 2008; Cideciyan et al 2008; Maguire et al 2008), X-linked adrenoleukodystrophy (Cartier et al 2009), metachromatic leukodystrophy (Biffi et al 2013) and haemophilia B (Nathwani et al 2011) and the first market authorisation…”
BackgroundGenetic engineering of hematopoiesis: current stage of clinical translation and future perspectives
Naldini, L. (2019) · EMBO Molecular Medicine · doi:10.15252/emmm.201809958 · Cited by 115
“Lessons from current HSC GT trials LV first entered clinical testing in T cells of HIV-infected patients to instruct viral resistance (Levine et al, 2006; Tebas et al, 2013) and, few years later, in HSC (Cartier et al, 2009).”
BackgroundMethodTepavčević, V., & Lubetzki, C. (2022) · Brain · doi:10.1093/brain/awac307 · Cited by 115
Sergijenko, A., Langford-Smith, A., Liao, A. Y., Pickford, C. E., McDermott, J. H., Nowinski, G., Langford‐Smith, K., Merry, C. L. R., Jones, S. A., Wraith, J. E., et al. (2013) · Molecular Therapy · doi:10.1038/mt.2013.141 · Cited by 111
Gaucher disease: clinical profile and therapeutic developments
Cox, T. M. (2010) · Biologics · doi:10.2147/btt.s7582 · Cited by 110
Tumor Microenvironment in the Brain
Lorger, M. (2012) · Cancers · doi:10.3390/cancers4010218 · Cited by 114
“This view, however, has been challenged by several studies showing that monocytes infiltrate also the adult brain and differentiate into parenchymal microglia, although the monocyte turnover seems to be very slow in a healthy brain [89,90,93–97].”
ResultTargeting microglia in brain disorders
Priller, J., & Prinz, M. (2019) · Science · doi:10.1126/science.aau9100 · Cited by 112
Induced pluripotent stem cell models from X-linked adrenoleukodystrophy patients
Jang, J., Kang, H., Kim, H., Kim, J. Y., Huh, Y. J., Kim, D., Yoo, J., Lee, J., Lim, B., Lee, J., et al. (2011) · Annals of Neurology · doi:10.1002/ana.22486 · Cited by 109
Clinical Gene Therapy for Neurodegenerative Diseases: Past, Present, and Future
Piguet, F., Alves, S., & Cartier, N. (2017) · Human Gene Therapy · doi:10.1089/hum.2017.160 · Cited by 115
“Gene therapy resulted in functional human ALDP expression and disease stabilization, with results comparable to those obtained with HCT from a healthy donor, without the risks and complications associated with allogeneic transplant.(31) A larger multicenter study is currently ongoing and is confirming positive results…”
Self-citationConstruction of stable packaging cell lines for clinical lentiviral vector production
Sanber, K. S., Knight, S. B., Stephen, S. L., Bailey, R., Escors, D., Minshull, J., Santilli, G., Thrasher, A. J., Collins, M. K., & Takeuchi, Y. (2015) · Scientific Reports · doi:10.1038/srep09021 · Cited by 108
Cesana, D., de Sio, F. R. S., Rudilosso, L., Gallina, P., Calabria, A., Beretta, S., Merelli, I., Bruzzesi, E., Passerini, L., Nozza, S., et al. (2017) · Nature Communications · doi:10.1038/s41467-017-00609-1 · Cited by 111
β-globin gene transfer to human bone marrow for sickle cell disease
Romero, Z. G., Urbinati, F., Geiger, S., Cooper, A. R., Wherley, J., Kaufman, M. L., Hollis, R. P., de Assín, R. R., Senadheera, S., Sahagian, A., et al. (2013) · Journal of Clinical Investigation · doi:10.1172/jci67930 · Cited by 112
“of 10%–20% gene-modified autologous HSC has been demonstrated in clinical trials for X-ALD and β-thalassemia using LV vectors and fully cytoablative conditioning, indicating that it should be achievable in the setting of SCD as well (31, 52).”
Biju, K. C., Zhou, Q., Li, G., Imam, S. Z., Roberts, J. L., Morgan, W. W., Clark, R. A., & Li, S. (2010) · Molecular Therapy · doi:10.1038/mt.2010.107 · Cited by 106
DeBarber, A. E., Eroğlu, Y., Merkens, L. S., Pappu, A. S., & Steiner, R. D. (2011) · Expert Reviews in Molecular Medicine · doi:10.1017/s146239941100189x · Cited by 108
Gene Therapy for X-Linked Severe Combined Immunodeficiency: Where Do We Stand?
Cavazzana, M., Six, E., Lagresle-Peyrou, C., André-Schmutz, I., & Hacein-Bey-Abina, S. (2016) · Human Gene Therapy · doi:10.1089/hum.2015.137 · Cited by 106
“Self-inactivating vectors have formally demonstrated their improved safety profile (relative to LTR-driven retroviral vectors), as no SAEs have been observed since their first use in clinical trials in 2006.(71) Another dogma has been also deeply challenged by the last 20 years of RIS analysis: changes due to the clon…”
Self-citationNewborn Screening for X-Linked Adrenoleukodystrophy
Moser, A., Jones, R., Hubbard, W., Tortorelli, S., Orsini, J., Caggana, M., Vogel, B., & Raymond, G. (2016) · International Journal of Neonatal Screening · doi:10.3390/ijns2040015 · Cited by 106
“Early results of clinical trials of autologous gene transplantation using Lenti viral vector are promising [12].”
BackgroundCharrier, S., Ferrand, M., Zerbato, M., Précigout, G., Viornery, A., Bucher-Laurent, S., Benkhelifa‐Ziyyat, S., Merten, O., Perea, J., & Galy, A. H. M. (2010) · Gene Therapy · doi:10.1038/gt.2010.163 · Cited by 105
Hematopoietic Stem Cell Transplantation in Inborn Errors of Metabolism
Tan, E. Y., Boelens, J. J., Jones, S. A., & Wynn, R. F. (2019) · Frontiers in Pediatrics · doi:10.3389/fped.2019.00433 · Cited by 104
Herbst, F., Ball, C. R., Tuorto, F., Nowrouzi, A., Wang, W., Zavidij, O., Dieter, S. M., Fessler, S., van der Hoeven, F., Kloz, U., et al. (2012) · Molecular Therapy · doi:10.1038/mt.2012.46 · Cited by 104
Self-citationAdvancing Nonviral Gene Delivery: Lipid- and Surfactant-Based Nanoparticle Design Strategies
Donkuru, M., Badea, I., Wettig, S. D., Verrall, R. E., Elsabahy, M., & Földvári, M. (2010) · Nanomedicine · doi:10.2217/nnm.10.80 · Cited by 102
Dynamics of HSPC Repopulation in Nonhuman Primates Revealed by a Decade-Long Clonal-Tracking Study
Kim, S., Kim, N., Presson, A. P., Metzger, M. E., Bonifacino, A. C., Sehl, M. E., Chow, S. A., Crooks, G. M., Dunbar, C. E., An, D. S., et al. (2014) · Cell stem cell · doi:10.1016/j.stem.2013.12.012 · Cited by 100
“More recent clinical trials using lentiviral vectors have tracked repopulation without obvious genotoxic effects, revealing long-term repopulation by thousands of gene-engineered cells (Aiuti et al., 2013; Biffi et al., 2013; Cartier et al., 2009;Cavazzana-Calvo et al., 2010).”
BackgroundInfluentialExtended Survival of Glioblastoma Patients After Chemoprotective HSC Gene Therapy
Adair, J. E., Beard, B. C., Trobridge, G. D., Neff, T., Rockhill, J. K., Silbergeld, D. L., Mrugala, M. M., & Kiem, H. (2012) · Science Translational Medicine · doi:10.1126/scitranslmed.3003425 · Cited by 104
“We were able to identify more than 12,000 unique RISs in the three patients (table S3), and used a capture frequency analysis (12) as a semiquantitative assay to identify potentially dominant clones.”
Gene therapy for severe combined immunodeficiencies and beyond
Fischer, A., & Hacein‐Bey‐Abina, S. (2019) · The Journal of Experimental Medicine · doi:10.1084/jem.20190607 · Cited by 108
Self-citationBobadilla, S., Sunseri, N., & Landau, N. R. (2012) · Gene Therapy · doi:10.1038/gt.2012.61 · Cited by 105
Laminopathies: The molecular background of the disease and the prospects for its treatment
Zaremba-Czogalla, M., Dubińska–Magiera, M., & Rzepecki, R. (2011) · Cellular & Molecular Biology Letters · doi:10.2478/s11658-010-0038-9 · Cited by 103
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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