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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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ResultAllele-Specific Silencing of Mutant Huntingtin in Rodent Brain and Human Stem Cells
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“To determine whether hallmarks of insertional mutagenesis were present in transplanted mice, we assessed the occurrence of common insertion sites (CIS) similar to currently ongoing LV-mediated clinical trials.(10,11,13,14,27) CIS are insertional hotspots that may result from integration bias at the time of transductio…”
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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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