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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]
The cited source says what the claim attributes to it.
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]
The cited source says what the claim attributes to it.
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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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
“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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“In addition, so far ex vivo gene therapy will be limited to those cases that are identified pre-symptomatically based on family history, until MLD is included into newborn screening programs.”
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BackgroundPeroxisomal defects in microglial cells induce a disease-associated microglial signature
Raas, Q., Tawbeh, A., Tahri-Joutey, M., Gondcaille, C., Keime, C., Kaiser, R., Trompier, D., Nasser, B., Leoni, V., Bellanger, E., et al. (2023) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2023.1170313 · Cited by 16
“Functional replacement of microglia by monocyte/macrophage cells using allogeneic hematopoietic stem cell transplantation and cell-based gene therapy has proven to be therapeutically effective for X-ALD patients (Cartier et al., 2009; Eichler et al., 2017; Weinhofer et al., 2018).”
BackgroundAlinejad, T., Modarressi, S., Sadri, Z., Zuo, H., & Chen, C. S. (2023) · Journal of Cancer Research and Clinical Oncology · doi:10.1007/s00432-023-04747-6 · Cited by 16
Advances in Pompe Disease Treatment: From Enzyme Replacement to Gene Therapy
Colella, P. (2024) · Molecular Diagnosis & Therapy · doi:10.1007/s40291-024-00733-x · Cited by 20
Gene therapy for the leukodystrophies: From preclinical animal studies to clinical trials.
Metovic, J., Li, Y., Gong, Y., & Eichler, F. (2024) · Neurotherapeutics · doi:10.1016/j.neurot.2024.e00443 · Cited by 16
“These patients initially experienced clinical stabilization and discontinuation of active demyelination starting 14 – 16 months after gene therapy infusion, but three of the four patients eventually experienced severe neurologic decompensation in the setting of disease progression [87,88].”
BackgroundSelection of RNAi-based inhibitors for anti-HIV gene therapy
Knoepfel, S. A. (2012) · World Journal of Virology · doi:10.5501/wjv.v1.i3.79 · Cited by 17
Giordano, F. A., Sorg, U. R., Appelt, J.-U., Lachmann, N., Bleier, S., Roeder, I., Kleff, V., Flaßhove, M., Zeller, W. J., Allgayer, H., et al. (2011) · Human Gene Therapy · doi:10.1089/hum.2010.088 · Cited by 16
Moiani, A., Miccio, A., Rizzi, E., Severgnini, M., Pellin, D., Suerth, J. D., Baum, C., Bellis, G. D., & Mavilio, F. (2013) · PLoS ONE · doi:10.1371/journal.pone.0055721 · Cited by 16
“Recent clinical studies have shown that transplantation of stem cells genetically modified by retroviral vectors may cure severe genetic diseases such as immunodeficiencies [6,7,8], skin adhesion defects [9] and lysosomal storage disorders [10].”
BackgroundGene therapy for metabolic disorders: an overview with a focus on urea cycle disorders
Alexander, I. E., Kok, C., Dane, A. P., & Cunningham, S. C. (2012) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-012-9467-0 · Cited by 16
Tarantal, A. F., & Skarlatos, S. I. (2012) · Human Gene Therapy · doi:10.1089/hum.2012.178 · Cited by 16
“Significant advances have been made toward the successful treatment of inherited diseases by gene transfer (Brantly et al., 2009; Cartier et al., 2009; Cavazzana-Calvo et al., 2010; Ferrua et al., 2010; Hacein-Bey-Abina et al., 2010; Kohn, 2010; Perumbeti and Malik, 2010; Byrne et al., 2011; Grez et al., 2011; Bennett…”
Nasimuzzaman, M., Kim, Y., Wang, Y., & Persons, D. A. (2014) · Molecular Therapy — Methods & Clinical Development · doi:10.1038/mtm.2014.20 · Cited by 16
Interaction of vectors and parental viruses with the host genome
Gil-Fariña, I., & Schmidt, M. (2016) · Current Opinion in Virology · doi:10.1016/j.coviro.2016.07.004 · Cited by 17
Self-citationGene Therapy - Developments and Future Perspectives
Kang, C. (2011) · InTech eBooks · doi:10.5772/748 · Cited by 16
Lewis, G., Christiansen, L., McKenzie, J., Luo, M., Pasackow, E., Smurnyy, Y. D., Harrington, S., Gregory, P. D., Veres, G., Nègre, O., et al. (2018) · Molecular Therapy — Methods & Clinical Development · doi:10.1016/j.omtm.2018.04.001 · Cited by 16
Self-citationHIV Entry and Its Inhibition by Bifunctional Antiviral Proteins
Falkenhagen, A., & Joshi, S. (2018) · Molecular Therapy — Nucleic Acids · doi:10.1016/j.omtn.2018.09.003 · Cited by 16
Genetic Strategies for HIV Treatment and Prevention
Falkenhagen, A., & Joshi, S. (2018) · Molecular Therapy — Nucleic Acids · doi:10.1016/j.omtn.2018.09.018 · Cited by 16
Clones assemble! The clonal complexity of blood during ontogeny and disease
Ganuza, M., Hall, T., Obeng, E. A., & McKinney‐Freeman, S. (2020) · Experimental Hematology · doi:10.1016/j.exphem.2020.01.009 · Cited by 17
Primary Immunodeficiencies: Diseases of Children and Adults – A Review
Lewandowicz‐Uszyńska, A., Pasternak, G., Świerkot, J., & Bogunia‐Kubik, K. (2020) · Advances in experimental medicine and biology · doi:10.1007/5584_2020_556 · Cited by 16
Non-viral ex vivo genome-editing in mouse bona fide hematopoietic stem cells with CRISPR/Cas9
Byambaa, S., Uosaki, H., Ohmori, T., Hara, H., Endo, H., Nureki, O., & Hanazono, Y. (2021) · Molecular Therapy — Methods & Clinical Development · doi:10.1016/j.omtm.2021.01.001 · Cited by 15
del Pozo‐Rodríguez, A., Rodríguez‐Gascón, A., Rodríguez-Castejón, J., Vicente-Pascual, M., Gómez-Aguado, I., Battaglia, L., & Solinís, M. Á. (2019) · Advances in biochemical engineering, biotechnology · doi:10.1007/10_2019_109 · Cited by 16
Trompier, D., & Savary, S. (2013) · Colloquium Series on The Genetic Basis of Human Disease · doi:10.4199/c00075ed1v01y201303gbd004 · Cited by 17
Poletto, É., Colella, P., Vera, L. N. P., Khan, S. A., Tomatsu, S., Baldo, G., & Gomez‐Ospina, N. (2022) · Molecular Therapy — Methods & Clinical Development · doi:10.1016/j.omtm.2022.04.009 · Cited by 18
“Specifically, conditioning with BU has been shown to improve the homing to the central nervous system (CNS) by lentiviral-vectormodified mouse and human HSPCs in animal models when compared with radiation,(36,37) and it is currently used in clinical settings.(38,39) How human genome-edited HPSCs and their progeny engr…”
Saeed, M. Q., Dufour, N., Bartholmae, C., Sieranska, U., Knopf, M., Thierry, E., Thierry, S., Delelis, O., Grandchamp, N., Pilet, H., et al. (2014) · Molecular Therapy — Nucleic Acids · doi:10.1038/mtna.2014.65 · Cited by 14
Self-citationQasim, W., Vink, C. A., & Thrasher, A. J. (2010) · Molecular Therapy · doi:10.1038/mt.2010.76 · Cited by 17
Gene Therapy for Primary Immunodeficiencies
Fischer, A., Hacein‐Bey‐Abina, S., & Cavazzana, M. (2010) · Immunology and Allergy Clinics of North America · doi:10.1016/j.iac.2010.02.002 · Cited by 16
Self-citationNiizuma, H., Uematsu, M., Sakamoto, O., Uchiyama, T., Horino, S., Onuma, M., Matsuhashi, T., Rikiishi, T., Sasahara, Y., Minegishi, M., et al. (2011) · Pediatric Transplantation · doi:10.1111/j.1399-3046.2011.01539.x · Cited by 16
“patients with cerebral form of ALD, although there is a report of successful treatment of ALD by the gene therapy using viral vectors (2).”
BackgroundYokoi, T., Yokoi, K., Akiyama, K., Higuchi, T., Shimada, Y., Kobayashi, H., Sato, T., Ohteki, T., Otsu, M., Nakauchi, H., et al. (2016) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2016.08.003 · Cited by 16
Wu, C., Iwamoto, T., Igarashi, J., Miyajima, T., Hossain, M. A., Yanagisawa, H., Akiyama, K., Shintaku, H., & Eto, Y. (2017) · Molecular Genetics and Metabolism Reports · doi:10.1016/j.ymgmr.2017.06.004 · Cited by 16
Talib, S., & Shepard, K. A. (2020) · Stem Cells Translational Medicine · doi:10.1002/sctm.19-0375 · Cited by 16
“the early 1980s heralded a combined cell and gene based therapy approach for curing monogenetic disease,(18,19) a concept that was subsequently tested in clinical trials for primary immunodeficiencies such as X-linked severe combined immunodeficiency (SCID-X1),(20) SCID caused by adenosine deaminase deficiency (ADA-SC…”
BackgroundHaematopoietic stem cell transplantation in inborn errors of metabolism
Chiesa, R., Wynn, R. F., & Veys, P. A. (2016) · Current Opinion in Hematology · doi:10.1097/moh.0000000000000289 · Cited by 16
“[5] have reported encouraging results in two X-ALD patients with progressive cerebral demyelination, who were treated with gene therapy because of lack of a human leukocyte antigen-matched donor.”
BackgroundResultTurk, B. R., Theda, C., Fatemi, A. S., & Moser, A. B. (2019) · International Journal of Developmental Neuroscience · doi:10.1016/j.ijdevneu.2019.11.002 · Cited by 17
Persons, D. (2010) · Annals of the New York Academy of Sciences · doi:10.1111/j.1749-6632.2010.05581.x · Cited by 22
Gene therapy activates EVI1, destabilizes chromosomes
Dunbar, C. E., & Larochelle, A. (2010) · Nature Medicine · doi:10.1038/nm0210-163 · Cited by 16
It's Time for Gene Therapy to Get Disruptive!
Wilson, J. M. (2012) · Human Gene Therapy · doi:10.1089/hum.2011.2530 · Cited by 16
Pluripotent stem cell based gene therapy for hematological diseases
Vanhee, S., & Vandekerckhove, B. (2015) · Critical Reviews in Oncology/Hematology · doi:10.1016/j.critrevonc.2015.08.022 · Cited by 16
Gene Therapy for Inborn Errors of Immunity
Arlabosse, T., Booth, C., & Candotti, F. (2023) · The Journal of Allergy and Clinical Immunology In Practice · doi:10.1016/j.jaip.2023.04.001 · Cited by 15
Milazzo, R., Montepeloso, A., Kumar, R., Ferro, F., Cavalca, E., Rigoni, P., Cabras, P., Ciervo, Y., Das, S., Capotondo, A., et al. (2024) · Nature Communications · doi:10.1038/s41467-024-52301-w · Cited by 18
Developments in the treatment of hemophilia B: focus on emerging gene therapy
Gray, J. T., Cancio, M., Reiss, U. M., Nathwani, A. C., & Davidoff, A. M. (2013) · The Application of Clinical Genetics · doi:10.2147/tacg.s31928 · Cited by 17
Delivery of nucleic acid therapeutics by genetically engineered hematopoietic stem cells
Doering, C. B., Archer, D. R., & Spencer, H. T. (2010) · Advanced Drug Delivery Reviews · doi:10.1016/j.addr.2010.09.005 · Cited by 17
Gene therapy: therapeutic applications and relevance to pathology
Both, G. W., Alexander, I. E., Fletcher, S., Nicolson, T. J., Rasko, J. E. J., Wilton, S. D., & Symonds, G. P. (2011) · Pathology · doi:10.1097/pat.0b013e32834b1dad · Cited by 15
“Promising trials targeting the myeloid linage include the treatment of chronic granulomatous disease (CGD)(27) and X-linked adrenoleukodystrophy (ALD).(32) The latter is interesting in that ALD is a neurodegenerative disease with therapeutic benefit being conferred by gene-corrected cells of the myeloid linage enterin…”
BackgroundPark, C., Kim, H.-S., Jang, J., Lee, H., Lee, J. S., Yoo, J., Lee, D. R., & Kim, D. (2013) · PLoS ONE · doi:10.1371/journal.pone.0056242 · Cited by 14
The LAM-PCR Method to Sequence LV Integration Sites
Wang, W., Bartholomae, C. C., Gabriel, R., Deichmann, A., & Schmidt, M. (2016) · Methods in molecular biology · doi:10.1007/978-1-4939-3753-0_9 · Cited by 17
Self-citation
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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