The DOI matches its Crossref record; 39 of the 40 references it cites were found in a registry or an index.
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.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
The cited source doesn’t support the claim as written.
In the citing paper
“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]
Checked by a reasoning model — may be wrong.
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
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]
The cited source says what the claim attributes to it.
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]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
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
Sorted by citations
Items 801–900 of 1,000
Fight fire with fire: Gene therapy strategies to cure HIV
Huyghe, J., Sips, M., & Vandekerckhove, L. (2017) · Expert Review of Anti-infective Therapy · doi:10.1080/14787210.2017.1353911 · Cited by 16
Potential mechanisms for cell-based gene therapy to treat HIV/AIDS
Herrera-Carrillo, E., & Berkhout, B. (2014) · Expert Opinion on Therapeutic Targets · doi:10.1517/14728222.2014.980236 · Cited by 15
“We have chosen to transduce HSCs with the third-generation lentiviral vector system, for which there is growing evidence that it can be used safely [148-150].”
MethodBarbero, N., Magistris, C., Quagliotto, P., Bonandini, L., Barolo, C., Buscaino, R., Compari, C., Contardi, L., Fisicaro, E., & Viscardi, G. (2015) · ChemPlusChem · doi:10.1002/cplu.201500007 · Cited by 13
Zhou, S., Bonner, M. A., Wang, Y., Rapp, S., Ravin, S. S. D., Malech, H. L., & Sorrentino, B. P. (2014) · Human Gene Therapy Methods · doi:10.1089/hgtb.2014.122 · Cited by 15
Leukodystrophy: Basic and Clinical
Raymond, G. V. (2017) · Advances in neurobiology · doi:10.1007/978-3-319-57193-5_14 · Cited by 15
Ozog, S., Chen, C. X., Simpson, E., Garijo, O., Timberlake, N. D., Minder, P., Verhoeyen, E., & Torbett, B. E. (2018) · Molecular Therapy — Methods & Clinical Development · doi:10.1016/j.omtm.2018.11.006 · Cited by 17
“Recent clinical trials targeting this cell population have made meaningful impacts in patient outcomes for several diseases including sickle cell anemia,(2) beta-thalassemia,(3) metachromatic leukodystrophy,(4) Wiskott-Aldrich syndrome,(5) and X-linked adrenoleukodystrophy.(6)”
BackgroundAdrenoleukodystrophy in the era of newborn screening
Eng, L., & Regelmann, M. O. (2019) · Current Opinion in Endocrinology Diabetes and Obesity · doi:10.1097/med.0000000000000515 · Cited by 15
Hu, P., Li, Y., Sands, M. S., McCown, T. J., & Kafri, T. (2015) · Molecular Therapy — Methods & Clinical Development · doi:10.1038/mtm.2015.25 · Cited by 15
O’Reilly, M., Kohn, D. B., Bartlett, J. S., Benson, J. M., Brooks, P. J., Byrne, B. J., Camozzi, C. R., Cornetta, K. G., Crystal, R. G., Fong, Y., et al. (2013) · Human Gene Therapy · doi:10.1089/hum.2013.064 · Cited by 15
“Some clinical improvements have been observed in trials for X-adrenoleukodystrophy (Cartier et al., 2009) and b thalassemia (Cavazzana-Calvo et al.”
BackgroundMyocardial Repair and Regeneration: Bone Marrow or Cardiac Stem Cells?
Oldroyd, K. G., Berry, C., & Bartúnek, J. (2012) · Molecular Therapy · doi:10.1038/mt.2012.99 · Cited by 15
Curative approaches for sickle cell disease: A review of allogeneic and autologous strategies
Bauer, D. E., Brendel, C., & Fitzhugh, C. D. (2017) · Blood Cells Molecules and Diseases · doi:10.1016/j.bcmd.2017.08.014 · Cited by 15
Kettwig, M., Klemp, H. G., Nessler, S., Streit, F., Krätzner, R., Rosewich, H., & Gärtner, J. (2021) · Journal of Inherited Metabolic Disease · doi:10.1002/jimd.12389 · Cited by 14
Lentiviral Gene Transfer Corrects Immune Abnormalities in XIAP Deficiency
Topal, J., Panchal, N., Seijas, A. B. B., Roppelt, A., Mudde, A., Gaspar, H. B., Thrasher, A. J., Houghton, B. C., & Booth, C. (2022) · Journal of Clinical Immunology · doi:10.1007/s10875-022-01389-0 · Cited by 15
Advances and Challenges in the Development of Gene Therapy Medicinal Products for Rare Diseases
Bueren, J. A., & Auricchio, A. (2023) · Human Gene Therapy · doi:10.1089/hum.2023.152 · Cited by 17
Leuci, V., Mesiano, G., Gammaitoni, L., Cammarata, C., Capellero, S., Todorovic, M., Jordaney, N., Circosta, P., Elia, A. R., Lesnikova, M. P., et al. (2011) · Journal of Biotechnology · doi:10.1016/j.jbiotec.2011.09.001 · Cited by 14
Long-term Regulation of Genetically Modified Primary Hematopoietic Cells in Dogs
Okazuka, K., Beard, B. C., Emery, D. W., Schwarzwaelder, K., Spector, M. R., Sale, G. E., Kalle, C. V., Kiem, H., & Blau, C. A. (2011) · Molecular Therapy · doi:10.1038/mt.2011.8 · Cited by 14
Moss, J. A. (2014) · PubMed · Cited by 14
Ingemarsdotter, C. K., Poddar, S., Mercier, S., Patzel, V., & Lever, A. M. L. (2017) · Molecular Therapy — Nucleic Acids · doi:10.1016/j.omtn.2017.03.004 · Cited by 14
Shedding of clinical-grade lentiviral vectors is not detected in a gene therapy setting
Cesani, M., Plati, T., Lorioli, L., Benedicenti, F., Redaelli, D., Dionisio, F., Biasco, L., Montini, E., Naldini, L., & Biffi, A. (2015) · Gene Therapy · doi:10.1038/gt.2015.10 · Cited by 14
Gabriel, R., Kutschera, I., Bartholomae, C. C., Kalle, C. V., & Schmidt, M. (2014) · Journal of Visualized Experiments · doi:10.3791/51543 · Cited by 16
Self-citationHou, S., Choi, J., Chen, K., Zhang, Y., Peng, J., Garcia, M. A., Yu, J., Thakore-Shah, K., Ro, T., Chen, J., et al. (2015) · Small · doi:10.1002/smll.201402602 · Cited by 14
Safer conditioning for blood stem cell transplants
Aiuti, A., & Naldini, L. (2016) · Nature Biotechnology · doi:10.1038/nbt.3629 · Cited by 14
Genome editing: a robust technology for human stem cells
Chandrasekaran, A. P., Song, M., & Ramakrishna, S. (2017) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-017-2522-0 · Cited by 14
Zhao, Y., Li, Z., Sheng, W., Miao, J., & Yang, J. (2012) · Oncology Reports · doi:10.3892/or.2012.1930 · Cited by 15
“The In Situ Cell Death Detection kit was purchased from Roche Applied Science (Shanghai, China).”
Gene Therapy Strategies to Block HIV-1 Replication by RNA Interference
Herrera-Carrillo, E., & Berkhout, B. (2015) · Advances in experimental medicine and biology · doi:10.1007/978-1-4939-2432-5_4 · Cited by 15
Gene therapy's out-of-body experience
Scott, C. T., & DeFrancesco, L. (2016) · Nature Biotechnology · doi:10.1038/nbt.3592 · Cited by 14
Mirow, M., Schwarze, L. I., Fehse, B., & Riecken, K. (2021) · Viruses · doi:10.3390/v13081471 · Cited by 13
Lemmens, M., Dorsheimer, L., Zeller, A., & Dietz, Y. (2024) · Mutation Research/Genetic Toxicology and Environmental Mutagenesis · doi:10.1016/j.mrgentox.2024.503767 · Cited by 15
Are monocytes a preferable option to develop myeloid cell-based therapies for solid tumors?
Bhatia, D., Dolcetti, R., & Mazzieri, R. (2025) · Journal of Experimental & Clinical Cancer Research · doi:10.1186/s13046-025-03359-x · Cited by 12
Recent Advances in Fetal Gene Therapy
Buckley, S. M. K., Rahim, A. A., Chan, J. K. Y., David, A. L., Peebles, D., Coutelle, C., & Waddington, S. N. (2011) · Therapeutic Delivery · doi:10.4155/tde.11.17 · Cited by 13
A new method to cross-link a polyplex for enhancing in vivo stability and transfection efficiency
Piao, J., Yan, J., Wang, M., Wu, D., & You, Y. (2013) · Biomaterials Science · doi:10.1039/c3bm60204d · Cited by 14
Gene transfer mediated by stem cell grafts to treat CNS injury
Hwang, D. H., Jeong, S. R., & Kim, B. G. (2011) · Expert Opinion on Biological Therapy · doi:10.1517/14712598.2011.631908 · Cited by 13
“Recent clinical trials with HSC gene therapy used late-generation lentiviral vectors that are thought to be more efficient and safer than retroviral vectors [98].”
BackgroundGiordano, F., Appelt, J., Link, B., Gerdes, S., Lehrer, C.-I., Scholz, S. J., Paruzynski, A., Roeder, I., Wenz, F., Glimm, H., et al. (2015) · Molecular Therapy: Methods & Clinical Development · doi:10.1038/mtm.2014.61 · Cited by 13
“6,18,36,37 We therefore hypothesized that each of the multiple integrations present in a complex sample should be thus having equal opportunities to be drawn by nrLAM-PCR, allowing a good estimation of the contributions of each clone.”
Self-citationPotential Reuse of Oncology Drugs in the Treatment of Rare Diseases
Liu, Z., Fang, H., Slikker, W., & Tong, W. (2016) · Trends in Pharmacological Sciences · doi:10.1016/j.tips.2016.06.010 · Cited by 13
“iPSC-based models have been developed for several rare diseases [108] including ALS [109], LEOPARD syndrome [110], Hurler syndrome [111], Huntington disease [112], and X-linked adrenoleukodystrophy [113].”
Islamov, R. R., Bashirov, F. V., Sokolov, M. E., Izmailov, A., Fadeev, F., Аршалуйсович, М. В., Davleeva, M., Zubkova, O. V., Smarov, M. M., Logunov, D. Y., et al. (2020) · Neural Regeneration Research · doi:10.4103/1673-5374.290902 · Cited by 13
“The method is based on autotransplantation of genetically modified HSCs in which the mutated ABCD1 gene was genetically corrected using a lentiviral vector (Cartier et al., 2009).”
MethodDong, B., Lv, W., Xu, L., Zhao, Y., Sun, X., Wang, Z., Cheng, B., Fu, Z., & Wang, Y. (2022) · International Journal of Endocrinology · doi:10.1155/2022/5479781 · Cited by 12
“Transplantation with the autologous bone marrow transfected in vitro with ABCD1 gene modification has been performed [38, 39].”
CRISPR/Cas9-mediated gene editing. A promising strategy in hematological disorders
Ugalde, L., Fañanas-Baquero, S., Torres-Ruiz, R., Bustamante, O. Q., & Rı́o, P. (2023) · Cytotherapy · doi:10.1016/j.jcyt.2022.11.014 · Cited by 16
Induced Pluripotent Stem Cells in Disease Biology and the Evidence for Their In Vitro Utility
Adegunsoye, A., Gonzales, N. M., & Gilad, Y. (2023) · Annual Review of Genetics · doi:10.1146/annurev-genet-022123-090319 · Cited by 16
Cell-and Gene-based Therapeutic Approaches for Neurological Deficits in Mucopolysaccharidoses
Pan, D. (2011) · Current Pharmaceutical Biotechnology · doi:10.2174/138920111795542679 · Cited by 13
Bone Marrow as a Source of Hematopoietic Stem Cells for Human Gene Therapy of β-Thalassemia
Frittoli, M. C., Biral, E., Cappelli, B., Zambelli, M., Roncarolo, M. G., Ferrari, G., Ciceri, F., & Marktel, S. (2010) · Human Gene Therapy · doi:10.1089/hum.2010.045 · Cited by 13
Neurotrophin 3 Improves Delayed Reconstruction of Sensory Pathways After Cervical Dorsal Root Injury
Liu, S., Blanchard, S., Bigou, S., Vitry, S., Bohl, D., & Heard, J. (2010) · Neurosurgery · doi:10.1227/neu.0b013e318200512f · Cited by 13
Tong, J., Buch, S. J., Yao, H., Wu, C., Tong, H.-I., Wang, Y., & Lu, Y. (2014) · PLoS ONE · doi:10.1371/journal.pone.0082030 · Cited by 13
“In recent clinical gene therapy trials, LV-based gene delivery approaches have successfully been used for genetic modification of hematopoietic stem cells with a corrective gene encoding ABCD1 gene to treat X-linked adrenoleukodystrophy [57].”
MethodMethodology and software to detect viral integration site hot-spots
Presson, A. P., Kim, N., Xiaofei, Y., Chen, I. S. Y., & Kim, S. (2011) · BMC Bioinformatics · doi:10.1186/1471-2105-12-367 · Cited by 13
“Column one indicates the data set name given in this paper, and the ‘ Study ’ column indicates the parent study where X-linked ALD (adrenoleukodystrophy), CGD (chronic granulomatous disease) and SCIDX1 (X-linked severe combined immunodeficiency) refer to human clinical trials, and GFP (green fluorescent protein) indic…”
BackgroundMethodInfluentialJen, M. C., Baler, K., Hood, A. R., Shin, S., Shea, L. D., & Ameer, G. A. (2012) · Journal of Biomedical Materials Research Part A · doi:10.1002/jbm.a.34449 · Cited by 13
Gélinas, J., Gill, D. R., & Hyde, S. C. (2018) · Microbiology and Molecular Biology Reviews · doi:10.1128/mmbr.00051-17 · Cited by 14
Capone, F., Nappi, F., & Galli, M. C. (2020) · Elsevier eBooks · doi:10.1016/b978-0-12-812034-7.00011-x · Cited by 15
Moscatelli, I., Almarza, E., Schambach, A., Ricks, D. M., Schulz, A., Herzog, C. D., Henriksen, K., Askmyr, M., Schwartz, J. D., & Richter, J. (2020) · Molecular Therapy — Methods & Clinical Development · doi:10.1016/j.omtm.2020.12.009 · Cited by 15
The Application of Clinical Genetics
Maurer, M. H. (2012) · The Application of Clinical Genetics · doi:10.2147/tacg.s30150 · Cited by 13
Non-Viral Engineering of CAR-NK and CAR-T cells using the Tc Buster Transposon System™Preprint
Pomeroy, E. J., Lahr, W. S., Chang, J., Krueger, J. B., Wick, B. J., Slipek, N. J., Skeate, J. G., Webber, B. R., & Moriarity, B. S. (2021) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2021.08.02.454772 · Cited by 13
Gene Therapy: A New Approach in Modern Medicine
Yazdani, A., Alirezaie, Z., Motamedi, M. J., & Amani, J. (2018) · International Journal of Medical Reviews · doi:10.29252/ijmr-050304 · Cited by 15
Gene and Cellular Therapies for Leukodystrophies
Aerts‐Kaya, F., & van Til, N. P. (2023) · Pharmaceutics · doi:10.3390/pharmaceutics15112522 · Cited by 14
“The results from the first lentiviral HSPC gene therapy trial for treatment of X-ALD in two patients were published in 2009, and showed that 1 year after gene therapy, progressive cerebral demyelination had been halted, similar to treatment with allogeneic HSC transplantation [44].”
BackgroundScott, A. I., Mallhi, K. K., Ganesh, J., & Chen, W. (2023) · Genetics in Medicine Open · doi:10.1016/j.gimo.2023.100835 · Cited by 12
Pathophysiology of X-Linked Adrenoleukodystrophy: Updates on Molecular Mechanisms
Parasar, P., Kaur, N., & Singh, J. (2024) · Journal of Biotechnology and Biomedicine · doi:10.26502/jbb.2642-91280151 · Cited by 12
“The mechanism of HSCT-mediated arrest of the brain inflammation in X-ALD is unclear; however, the success of the HSC gene therapy shows that only a partial correction of HSC progeny is necessary to halt cerebral disease [37, 95].”
BackgroundGene Delivery Techniques for Adult Stem Cell-Based Regenerative Therapy
Seo, S.-J., Kim, T.-H., Choi, S., Park, J.-H., Wall, I. B., & Kim, H. (2013) · Nanomedicine · doi:10.2217/nnm.13.165 · Cited by 12
Development of a CRISPR/Cas9 system against ruminant animal brucellosis
Karponi, G., Kritas, S. K., Papadopoulou, G., Akrioti, E.-K., Papanikolaou, E., & Petridou, E. (2019) · BMC Veterinary Research · doi:10.1186/s12917-019-2179-z · Cited by 12
Rizvanov, A. A., Shaimardanova, A. A., Chulpanova, D. S., Solovyeva, V. V., & Аймалетдинов, А. М. (2021) · Neural Regeneration Research · doi:10.4103/1673-5374.314310 · Cited by 12
“It has also been shown that genetically modified CD34 + stem cells can effectively prevent a demyelination in X-linked adrenoleukodystrophy (Cartier et al., 2009).”
Intracerebral lentiviral ABCD1 gene therapy in an early disease onset ALD mouse model
Gong, J., Liu, Y., Chung, T., Xu, L., Lund, T. C., & Chang, L. (2022) · Gene Therapy · doi:10.1038/s41434-022-00355-0 · Cited by 12
Knockdown of HPRT for Selection of Genetically Modified Human Hematopoietic Progenitor Cells
Choudhary, R., Baturin, D., Fosmire, S. P., Freed, B. M., & Porter, C. C. (2013) · PLoS ONE · doi:10.1371/journal.pone.0059594 · Cited by 12
“In the past decade, several clinical trials have been carried out that have highlighted both the promise of gene therapy [1,2,3,4] and the potential harm from the uncontrolled integrations of the viral vectors used to deliver the therapeutic transgene [5,6].”
BackgroundMethodGene-modified hematopoietic stem cells for cancer immunotherapy
Larson, S. M., & Oliveira, S. N. D. (2014) · Human Vaccines & Immunotherapeutics · doi:10.4161/hv.27637 · Cited by 12
From Marrow to Matrix: Novel Gene and Cell Therapies for Epidermolysis Bullosa
Webber, B. R., & Tolar, J. (2015) · Molecular Therapy · doi:10.1038/mt.2015.47 · Cited by 13
Adrenoleukodystrophy: a forgotten diagnosis in children with primary Addison's disease: Figure 1
Nascimento, M., Rodrigues, N., Espada, F., & Fonseca, M. (2012) · BMJ Case Reports · doi:10.1136/bcr-2012-006308 · Cited by 12
“For patients with high index suspicion but normal or borderline plasma VLCFA, concentrations should also be measured in the cultured skin fi broblasts before excluding the diagnosis of X-ALD.”
InfluentialSurface modification via strain-promoted click reaction facilitates targeted lentiviral transduction
Chu, Y., Oum, Y. H., & Carrico, I. S. (2015) · Virology · doi:10.1016/j.virol.2015.09.009 · Cited by 13
Chin, C. J., Cooper, A. R., Lill, G. R., Evseenko, D. A., Zhu, Y., He, C. B., Casero, D., Pellegrini, M. A., Kohn, D. B., & Crooks, G. M. (2016) · Stem Cells · doi:10.1002/stem.2351 · Cited by 12
McKinney, A. M., Benson, J. C., Nascene, D. R., Eisengart, J. B., Salmela, M. B., Loes, D. J., Zhang, L., Patel, K., Raymond, G. V., & Miller, W. P. (2016) · American Journal of Neuroradiology · doi:10.3174/ajnr.a4773 · Cited by 12
“Such an arrest in demyelination may have a histopathologic precedent, in which murine studies have shown that certain microglial cells are absent initially at the demyelinating edge, but there is a subsequent slow return of microglial guard cells by about 1 year post-HSCT as progression of the disease halts.(22-26) Th…”
BackgroundResultInfluentialHematopoietic Gene Therapies for Metabolic and Neurologic Diseases
Biffi, A. (2017) · Hematology/Oncology Clinics of North America · doi:10.1016/j.hoc.2017.06.004 · Cited by 12
Yabe, I. M., Truitt, L. L., Espinoza, D. A., Wu, C., Koelle, S., Panch, S. R., Corat, M. A. F., Winkler, T., Yu, K., Hong, S. G., et al. (2018) · Molecular Therapy — Methods & Clinical Development · doi:10.1016/j.omtm.2018.10.009 · Cited by 11
Lund, T. C., Ng, M., Orchard, P. J., Loes, D. J., Raymond, G. V., Gupta, A., Kenny-Jung, D., & Nascene, D. R. (2020) · Biology of Blood and Marrow Transplantation · doi:10.1016/j.bbmt.2020.06.019 · Cited by 12
Gene therapy for leukodystrophy: progress, challenges and opportunities
Aubourg, P. R. (2016) · Expert Opinion on Orphan Drugs · doi:10.1517/21678707.2016.1151352 · Cited by 11
“Like allogeneic HSC transplantation, it allowed to definitively arrest the progression of cerebral demyelination in the four treated patients with good to very good quality of life in three of them (follow-up ranging from 5 to 8 years).[27] In one patient, after an initial effect of gene therapy, cerebral disease rela…”
BackgroundSelf-citationInborn Errors of Metabolism of the Nervous System
Pastores, G. M. (2008) · Elsevier eBooks · doi:10.1016/b978-0-7506-7525-3.50104-7 · Cited by 12
Recent Developments in Phosphonium Chemistry
Berchel, M., & Jaffrès, P. (2019) · Organophosphorus chemistry · doi:10.1002/9783527672240.ch2 · Cited by 12
Revisiting the Pathogenesis of X-Linked Adrenoleukodystrophy
Bougnères, P., & Le Stunff, C. (2025) · Genes · doi:10.3390/genes16050590 · Cited by 11
Tiwari, S., Hontz, A. E., Terrell, C. E., Arumugam, P. I., Carmo, M., Risma, K., Jordan, M. B., & Malik, P. (2016) · Human Gene Therapy · doi:10.1089/hum.2016.065 · Cited by 12
Plasschaert, R. N., DeAndrade, M. P., Hull, F., Nguyen, Q., Peterson, T., Yan, A., Loperfido, M., Baricordi, C., Barbarossa, L., Yoon, J. K., et al. (2022) · Molecular Therapy · doi:10.1016/j.ymthe.2022.05.022 · Cited by 12
“Similar levels of engraftment in the brain were previously reported by others.(28,46) In contrast, when HSPCs are administered via i.”
ResultYe, S., Theotokis, P., Lee, J. Y., Kim, M. J., Nheu, D., Ellen, O., Bedford, T., Ramanujam, P., Wright, D. K., McDonald, S. J., et al. (2023) · Brain Communications · doi:10.1093/braincomms/fcad108 · Cited by 11
Puig-Serra, P., Hinckley-Boned, A., Tristán‐Manzano, M., Rı́o, P., Torres-Ruiz, R., Rodríguez, S., & Martı́n, F. (2025) · Human Gene Therapy · doi:10.1177/10430342251372474 · Cited by 11
Tai, D. S., Hu, C., Lee, C. C. I., Martinez, M. L., Cantero, G., Kim, E. H., Tarantal, A. F., & Lipshutz, G. S. (2015) · Gene Therapy · doi:10.1038/gt.2015.65 · Cited by 12
Retrovirus-based vectors for transient and permanent cell modification
Schott, J. W., Hoffmann, D., & Schambach, A. (2015) · Current Opinion in Pharmacology · doi:10.1016/j.coph.2015.09.004 · Cited by 12
Gene Therapy for Inherited Diseases of Liver Metabolism
Piccolo, P., & Brunetti‐Pierri, N. (2015) · Human Gene Therapy · doi:10.1089/hum.2015.029 · Cited by 12
“Patients with peroxisomal disorder X-linked adrenoleukodystrophy treated with ex vivo lentiviral vector-mediated gene therapy have also exhibited evidence of clinical benefits.(34) Ex vivo approaches are desirable as an alternative to hepatic transplantation in inborn errors of liver metabolism because they are less i…”
Bashyal, N., Lee, T.-Y., Chang, D., Jung, J.-H., Kim, M. G., Acharya, R., Kim, S., Oh, I., & Suh‐Kim, H. (2022) · Molecules and Cells · doi:10.14348/molcells.2022.5015 · Cited by 12
“…stem cells (HSCs) to cure monogenic genetic diseases, including adenosine deaminase severe combined immunodeficiency (ADA-SCID), X-linked-SCID, and X-linked adrenoleukodystrophy (ALD) (Cartier et al., 2009; Cicalese et al., 2018; Hacein-Bey-Abina et al., 2002; Naldini, 2011; Tani, 2016).”
Clinical potential of gene therapy: towards meeting the demand
Macpherson, J. L., & Rasko, J. E. J. (2014) · Internal Medicine Journal · doi:10.1111/imj.12366 · Cited by 13
Identification of Hematopoietic Stem Cell Engraftment Genes in Gene Therapy Studies
Powers, J. M. (2011) · Journal of Stem Cell Research & Therapy · doi:10.4172/2157-7633.s3-004 · Cited by 11
“Retroviral vectors have been used successfully in HSC gene therapy clinical trials for several genetic diseases including X-linked severe combined immunodeficiency (SCID-X1) [1,2], adenosine deaminase deficiency (SCID-ADA) [3,4], chronic granulomatous disease (CGD) [5], and adrenoleukodystrophy (ALD) [6].”
MethodFetal therapy: 2020 and beyond
Choolani, M. A., Chan, J. K. Y., & Fisk, N. M. (2010) · Prenatal Diagnosis · doi:10.1002/pd.2527 · Cited by 11
Gene therapies in clinical trials
Papadopoulos, K. I., Wattanaarsakit, P., Prasongchean, W., & Narain, R. (2016) · Elsevier eBooks · doi:10.1016/b978-0-08-100520-0.00010-2 · Cited by 11
Myelin disorders and stem cells: as therapies and models
Aydınlı, F. İ., Çelik, E., Vatandaşlar, B. K., & Kerman, B. E. (2016) · TURKISH JOURNAL OF BIOLOGY · doi:10.3906/biy-1512-83 · Cited by 10
“For patients that are not eligible for allogenic HCT, correction of the ABCD1 gene within their own HSCs is also being explored (Cartier et al., 2009).”
BackgroundMethodEmerging Concepts in Vector Development for Glial Gene Therapy: Implications for Leukodystrophies
von Jonquières, G., Rae, C. D., & Housley, G. D. (2021) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2021.661857 · Cited by 12
Advances in gene therapy for neurogenetic diseases: a brief review
Xie, Y., Lv, W., Chen, Y., Hong, S., Yao, X., Chen, W., & Zhao, M. (2021) · Journal of Molecular Medicine · doi:10.1007/s00109-021-02167-y · Cited by 11
“X-ALD LV Correct mutant ABCD1 gene Intracerebral Lentivirus X-ALD patient [82] 387 Journal of Molecular Medicine (2022) 100:385–394”
BackgroundLiang, M., Yan, M., Lu, Y., & Chen, I. S. Y. (2013) · Human Gene Therapy Methods · doi:10.1089/hgtb.2012.113 · Cited by 11
“S tably integrating retroviral and lentiviral vectors are commonly utilized for gene delivery (Cavazzana-Calvo et al. 2000; Aiuti et al. 2002, 2009; Cartier et al. 2009).”
Gomez, J., Pichon, C., & Midoux, P. (2013) · Gene · doi:10.1016/j.gene.2013.03.055 · Cited by 14
Gene therapy in India: A focus
Chodisetty, S., & Nelson, E. J. R. (2014) · Journal of Biosciences · doi:10.1007/s12038-014-9431-2 · Cited by 11
“No side effects were reported in both these patients (Cartier et al. 2009).”
BackgroundCao, X., Wei, R., Liu, X., Zeng, Y., Huang, H., Ding, M., Zhang, K.-J., & Liu, X. (2011) · Acta Biochimica et Biophysica Sinica · doi:10.1093/abbs/gmr071 · Cited by 11
Bhatt, K. H., Rudraraju, R., Brooks, J. F., Jung, J., Galea, R. C., Wells, J. W., & Steptoe, R. J. (2017) · Stem Cell Research & Therapy · doi:10.1186/s13287-017-0508-3 · Cited by 11
“severe combined immunodeficiency (scid)-X1 [1], leukodystrophies [2, 3] and Wiskott–Aldrich syn-”
The European Hospital Exemption Clause—New Option for Gene Therapy?
Buchholz, C. J., Sanzenbacher, R., & Schüle, S. (2012) · Human Gene Therapy · doi:10.1089/hum.2011.2529 · Cited by 12
“…(Thrasher et al. , 2006; Gaspar et al. , 2010) or adenosine deaminase-deficient severe combined immunodeficiency (Gaspar et al. , 2006, 2011), b -thalassemia (Cavazzana-Calvo et al. , 2010), Wiskott-Aldrich syndrome (Boztug et al. , 2010), and adrenoleukodystrophy (Cartier et al. , 2009, 2010).”
Ge, G., Sivasubramanian, B. P., Geng, B. D., Zhao, S., Zhou, Q., Huang, G., O’Connor, J. C., Clark, R. A., & Li, S. (2024) · Gene Therapy · doi:10.1038/s41434-024-00451-3 · Cited by 11
Zuo, X., & Chen, Z. (2024) · Lipids in Health and Disease · doi:10.1186/s12944-024-02361-0 · Cited by 14
“Cartier et al. performed the first tests of this form of gene therapy in human patients with cerebral disease [31].”
BackgroundYu, Z., Liu, J., Liu, Z., Liu, X., Tuo, J., Li, J., Tu, Y., Tan, Q., Ma, Y., Bai, Y., et al. (2024) · Alzheimer s & Dementia · doi:10.1002/alz.14402 · Cited by 10
Araki, D., Hong, S. G., Linde, N. S., Fisk, B. A., Redekar, N. R., Salisbury-Ruf, C. T., Krouse, A. E., Engels, T., Golomb, J., Dagur, P. K., et al. (2025) · Blood · doi:10.1182/blood.2024024636 · Cited by 11
Hematopoietic Stem Cell Gene Therapy: Progress on the Clinical Front
Cavazzana, M. (2014) · Human Gene Therapy · doi:10.1089/hum.2014.2504 · Cited by 10
“…with gene therapy to date, the cell characteristics of the bone marrow and the most immature hematopoietic progenitors were similar to those of the normal counterpart in only two cases: X-linked adrenoleukodystrophy and metachromatic leukodystrophy (Cartier et al. , 2009; Biffi et al. , 2013).”
Fischer, A. (2014) · Nature · doi:10.1038/nature13344 · Cited by 11
Self-citationPhoenix rising: gene therapy makes a comeback
Limberis, M. P. (2012) · Acta Biochimica et Biophysica Sinica · doi:10.1093/abbs/gms036 · Cited by 11
“Disease progression in both subjects was halted and evidence of mild symptom reversal was observed [87] .”
BackgroundGene Therapy for Rare Central Nervous System Diseases Comes to Age
Aubourg, P. R. (2015) · Endocrine development · doi:10.1159/000439339 · Cited by 10
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
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
