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Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy
Open accessAbstract
BACKGROUND: In X-linked adrenoleukodystrophy, mutations in ABCD1 lead to loss of function of the ALD protein. Cerebral adrenoleukodystrophy is characterized by demyelination and neurodegeneration. Disease progression, which leads to loss of neurologic function and death, can be halted only with allogeneic hematopoietic stem-cell transplantation. METHODS: We enrolled boys with cerebral adrenoleukodystrophy in a single-group, open-label, phase 2-3 safety and efficacy study. Patients were required to have early-stage disease and gadolinium enhancement on magnetic resonance imaging (MRI) at screening. The investigational therapy involved infusion of autologous CD34+ cells transduced with the elivaldogene tavalentivec (Lenti-D) lentiviral vector. In this interim analysis, patients were assessed for the occurrence of graft-versus-host disease, death, and major functional disabilities, as well as changes in neurologic function and in the extent of lesions on MRI. The primary end point was being alive and having no major functional disability at 24 months after infusion. RESULTS: A total of 17 boys received Lenti-D gene therapy. At the time of the interim analysis, the median follow-up was 29.4 months (range, 21.6 to 42.0). All the patients had gene-marked cells after engraftment, with no evidence of preferential integration near known oncogenes or clonal outgrowth. Measurable ALD protein was observed in all the patients. No treatment-related death or graft-versus-host disease had been reported; 15 of the 17 patients (88%) were alive and free of major functional disability, with minimal clinical symptoms. One patient, who had had rapid neurologic deterioration, had died from disease progression. Another patient, who had had evidence of disease progression on MRI, had withdrawn from the study to undergo allogeneic stem-cell transplantation and later died from transplantation-related complications. CONCLUSIONS: Early results of this study suggest that Lenti-D gene therapy may be a safe and effective alternative to allogeneic stem-cell transplantation in boys with early-stage cerebral adrenoleukodystrophy. Additional follow-up is needed to fully assess the duration of response and long-term safety. (Funded by Bluebird Bio and others; STARBEAM ClinicalTrials.gov number, NCT01896102 ; ClinicalTrialsRegister.eu number, 2011-001953-10 .).
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“The former is associated with its own degree of morbidity and mortality [62], and both require the patient undergo chemotherapy [48].”
From Structure and Function of the ABCD1 Variant Database: 20 Years, 940 Pathogenic Variants, and 3400 Cases of Adrenoleukodystrophy (2022) · cites this paper as [48]
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.
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“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 [48]
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“However, they are useful only as the first signs of abnormalities are noted on magnetic resonance imaging (MRI) of the brain, before the onset of any neurological symptoms.”
From Identification of a Novel Non-Canonical Splice-Site Variant in ABCD1 (2023) · cites this paper as [6]
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“Thus, prompt diagnosis can improve the prognosis of CALD in boys [2,3,4,5,6].”
From Identification of a Novel Non-Canonical Splice-Site Variant in ABCD1 (2023) · cites this paper as [6]
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“Furthermore, an autologous hematopoietic stem cell transplantation after ex vivo lentiviral gene therapy has been developed (Eichler et al., 2017).”
From The neurological pathology of peroxisomal ACBD5 deficiency – lessons from patients and mouse models (2025) · cites this paper as Eichler et al., 2017
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“This novel variant was classified as a VUS according to the ACMG PM2, PP3, and PP4 criteria [6], and confirmed using Sanger sequencing (Figure 2B).”
From Identification of a Novel Non-Canonical Splice-Site Variant in ABCD1 (2023) · cites this paper as [6]
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Cites
Insertional oncogenesis in 4 patients after retrovirus-mediated gene therapy of SCID-X1
Hacein-Bey-Abina, S., Garrigue, A., Wang, G. P., Soulier, J., Lim, A., Morillon, E., Clappier, E., Caccavelli, L., Delabesse, E., Beldjord, K., et al. (2008) · Journal of Clinical Investigation · doi:10.1172/jci35700 · Cited by 1,854
Hematopoietic Stem Cell Gene Therapy with a Lentiviral Vector in X-Linked Adrenoleukodystrophy
Cartier, N., Hacein-Bey-Abina, S., Bartholomae, C. C., Veres, G., Schmidt, M., Kutschera, I., Vidaud, M., Abel, U., Dal-Cortivo, L., Caccavelli, L., et al. (2009) · Science · doi:10.1126/science.1171242 · Cited by 1,508
Self-citationHowe, S. J., Mansour, M. R., Schwarzwaelder, K., Bartholomae, C., Hubank, M., Kempski, H., Brugman, M. H., Pike-Overzet, K., Chatters, S. J., de Ridder, D., et al. (2008) · Journal of Clinical Investigation · doi:10.1172/jci35798 · Cited by 1,286
Self-citationGene therapy returns to centre stage
Naldini, L. (2015) · Nature · doi:10.1038/nature15818 · Cited by 1,184
Lentiviral Hematopoietic Stem Cell Gene Therapy Benefits Metachromatic Leukodystrophy
Biffi, A., Montini, E., Lorioli, L., Cesani, M., Fumagalli, F., Plati, T., Baldoli, C., Martino, S., Calabria, A., Canale, S., et al. (2013) · Science · doi:10.1126/science.1233158 · Cited by 1,180
Lentiviral Hematopoietic Stem Cell Gene Therapy in Patients with Wiskott-Aldrich Syndrome
Aiuti, A., Biasco, L., Scaramuzza, S., Ferrua, F., Cicalese, M. P., Baricordi, C., Dionisio, F., Calabria, A., Giannelli, S., Castiello, M. C., et al. (2013) · Science · doi:10.1126/science.1233151 · Cited by 1,025
Stein, S., Ott, M., Schultze‐Strasser, S., Jauch, A. S., Burwinkel, B., Kinner, A., Schmidt, M., Krämer, A., Schwäble, J., Glimm, H., et al. (2010) · Nature Medicine · doi:10.1038/nm.2088 · Cited by 792
Self-citationEngelen, M., Kemp, S., de Visser, M., van Geel, B. M., Wanders, R. J., Aubourg, P., & Poll-The, B. (2012) · Orphanet Journal of Rare Diseases · doi:10.1186/1750-1172-7-51 · Cited by 562
Self-citationAdrenoleukodystrophy: phenotype, genetics, pathogenesis and therapy
Moser, H. (1997) · Brain · doi:10.1093/brain/120.8.1485 · Cited by 478
A Modified γ-Retrovirus Vector for X-Linked Severe Combined Immunodeficiency
Hacein-Bey-Abina, S., Pai, S.-Y., Gaspar, H. B., Armant, M., Berry, C. C., Blanche, S., Bleesing, J., Blondeau, J., de Boer, H., Buckland, K. F., et al. (2014) · New England Journal of Medicine · doi:10.1056/nejmoa1404588 · Cited by 412
Self-citation
Flagged first, then by citations
Research works printed but not linked: 2
- Loes DJ, 1994, AJNR Am J Neuroradiol, 15, 1761
- Amartino H, 2017, J Inborn Errors Metab Screen, 5, 1
Cited by
Sorted by citations
Items 301–400 of 606
Monitoring for and Management of Endocrine Dysfunction in Adrenoleukodystrophy
Kachwala, I. A., & Regelmann, M. O. (2022) · International Journal of Neonatal Screening · doi:10.3390/ijns8010018 · Cited by 10
“Hematopoietic stem cell transplant and potentially gene therapy can halt the progression of cerebral ALD [4,5].”
BackgroundTreatment of neurometabolic epilepsies: Overview and recent advances
Latzer, I. T., & Pearl, P. L. (2023) · Epilepsy & Behavior · doi:10.1016/j.yebeh.2023.109181 · Cited by 9
Expanding the concept of peroxisomal diseases and efficient diagnostic system in Japan
Takashima, S., Saitsu, H., & Shimozawa, N. (2018) · Journal of Human Genetics · doi:10.1038/s10038-018-0512-1 · Cited by 9
Puig-Saus, C., Parisi, G., García-Díaz, Á., Krystofinski, P. E., Sandoval, S., Zhang, R., Champhekar, A. S., McCabe, J. G., Cheung-Lau, G. C., Truong, N. A., et al. (2018) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-18-0963 · Cited by 9
“However, clinical trials using SIN-lentiviral vectors with the closely related MND promoter derived from the MPSV murine gamma-retrovirus (42) to drive the expression of the ABCD1 gene have shown safety and lack of clonal expansion of the modified cells (43, 44).”
Late onset adrenoleukodystrophy: A review related clinical case report
Paláu-Hernández, S., Rodríguez‐Leyva, I., & Shiguetomi-Medina, J. M. (2019) · eNeurologicalSci · doi:10.1016/j.ensci.2019.01.007 · Cited by 8
Preparation and Gene Modification of Nonhuman Primate Hematopoietic Stem and Progenitor Cells
Radtke, S., Perez, A. M., Venkataraman, R., et al. (2019) · Journal of Visualized Experiments · doi:10.3791/58933 · Cited by 9
Medicinal Plants in Tissue Engineering and Regenerative Medicine in the African Continent
Alaribe, F. N., & Motaung, K. S. (2019) · Tissue Engineering Part A · doi:10.1089/ten.tea.2019.0060 · Cited by 9
The Potential Effect of Medicinal Plants for Cartilage Regeneration
Alaribe, F. N., Razwinani, M., Maepa, M., & Motaung, K. S. (2019) · IntechOpen eBooks · doi:10.5772/intechopen.84780 · Cited by 9
Modular Lentiviral Vectors for Highly Efficient Transgene Expression in Resting Immune Cells
Fichter, C., Aggarwal, A., Wong, A. K. H., McAllery, S., Mathivanan, V., Hao, B., MacRae, H. H., Churchill, M. J., Gorry, P. R., Roche, M., et al. (2021) · Viruses · doi:10.3390/v13061170 · Cited by 9
Sevin, C., Hatteb, S. A., Clément, A., Bignami, F., Chillotti, L., Bugnard, F., Bénard, S., & Boespflug‐Tanguy, O. (2023) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-023-02843-x · Cited by 8
“Clinical trials performed in CCALD children demonstrate that this treatment, if performed in the same indications than allo-HSCT, provides similar efficacy [13].”
BackgroundSelf-citationEngineered packaging cell line for the enhanced production of baboon-enveloped retroviral vectors
Klatt, D., Sereni, L. P., Liu, B., Genovese, P., Schambach, A., Verhoeyen, E., Williams, D. A., & Brendel, C. (2024) · Molecular Therapy — Nucleic Acids · doi:10.1016/j.omtn.2024.102389 · Cited by 10
Self-citationPilocytic astrocytoma in a child with spinal muscular atrophy treated with onasemnogene abeparvovec
Holzwarth, D., Calaminus, G., Friese, J., Sejersen, T., Büning, H., John-Neek, P., Bastone, A. L., Rothe, M., Mansfield, K. G., Libertini, S., et al. (2025) · Molecular Therapy · doi:10.1016/j.ymthe.2025.02.025 · Cited by 8
“S-EPTS/LM-PCR has been successfully used for the identi fi cation of integration sites generated by integrating (e.g., lentivirus and retro-virus based), 22 – 25 as well as non-integrating vectors, such as rAAVs.”
Controlling CRISPR-Cas9 genome editing in human cells using a molecular glue degrader
Khajanchi, N., Patel, V., Dua, R., Kabra, M., Pattnaik, B. R., & Saha, K. (2025) · Molecular Therapy — Nucleic Acids · doi:10.1016/j.omtn.2025.102640 · Cited by 8
Liu, H., Singh, S., Mullen, T., Bullock, C., Keegan, S., Patterson, T., Thakur, S., Lundberg, A., Shenker, S., Couto, R., et al. (2025) · Molecular Therapy · doi:10.1016/j.ymthe.2025.09.001 · Cited by 8
Inborn Errors of Metabolism and Osteopetrosis
Wynn, R. F., & Schulz, A. (2018) · Springer eBooks · doi:10.1007/978-3-030-02278-5_90 · Cited by 8
A Phase 1 Study of Oral Vitamin D 3 in Boys and Young Men With X-Linked Adrenoleukodystrophy
van Haren, K. P., Cunanan, K. M., Awani, A., Gu, M., Peña, D., Chromik, L. C., Považan, M., Rossi, N., Winterbottom, J., Goodman, J., et al. (2023) · Neurology Genetics · doi:10.1212/nxg.0000000000200061 · Cited by 8
“This includes the current standard of care that uses allogeneic hematopoietic stem cell transplant as well as candidate therapies, such as lentiviral-mediated gene-therapy using autologous stem cells, which is currently pending regulatory approval in the United States.(49,50) Lorenzo oil, a mix of erucic and oleic aci…”
BackgroundSelf-citationGene therapy strategies for RAG1 deficiency: Challenges and breakthroughs
Gilioli, G., Lankester, A. C., de Kivit, S., Staal, F. J. T., & de Bruin, L. M. O. (2024) · Immunology Letters · doi:10.1016/j.imlet.2024.106931 · Cited by 8
Jia, M., Wu, W., Li, C., Cai, X., Zhang, L., Fang, Y., Zhu, C., & Gu, M. (2019) · Experimental and Therapeutic Medicine · doi:10.3892/etm.2019.7804 · Cited by 8
“Of note, MRI is currently used in China to monitor young males who have a high risk of developing cerebral X-ALD (16).”
BackgroundPapayanni, P. G., Psatha, N., Christofi, P., Li, X., Melo, P., Volpin, M., Montini, E., Liu, M., Kaltsounis, G., Yiangou, M., et al. (2021) · Human Gene Therapy · doi:10.1089/hum.2021.142 · Cited by 8
Parameswaran, J., Goicoechea, L., Planas‐Serra, L., Pastor, A., Ruíz, M., Calingasan, N. Y., Guilera, C., Aso, E., Boada, J., Pamplona, R., et al. (2022) · Acta Neuropathologica · doi:10.1007/s00401-022-02451-2 · Cited by 9
“The replacement of microglia and brain macrophages by CD34+ progenitors is necessary and sufficient to stop the progression of the inflammatory infantile from cALD in its early stages [4, 12, 22].”
BackgroundPsychiatric disease in an adolescent as a harbinger of cerebral X-linked adrenoleukodystrophy
Smith, J. C., Williams, M. T., & Misra, V. K. (2017) · Practical Neurology · doi:10.1136/practneurol-2017-001718 · Cited by 8
Yalçın, K., Çelen, S., Daloğlu, H., Demir, M. K., Öztürkmen, S., Pashayev, D., Zhumatayev, S., Uygun, V., Hazar, V., Karasu, G., et al. (2021) · Pediatric Transplantation · doi:10.1111/petr.14015 · Cited by 8
The neurological pathology of peroxisomal ACBD5 deficiency – lessons from patients and mouse models
Dawes, M. L., Haberlander, J. P., Islinger, M., & Schrader, M. (2025) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2025.1602343 · Cited by 7
Koto, Y., Ueki, S., Yamakawa, M., & Sakai, N. (2024) · JBI Evidence Synthesis · doi:10.11124/jbies-23-00303 · Cited by 8
Araujo, A. E., Bentler, M., Garmendia, X. P., Kaleem, A., Fabian, C., Morgan, M. A., Hacker, U. T., & Büning, H. (2024) · Human Gene Therapy · doi:10.1089/hum.2024.114 · Cited by 7
“60 The fi rst proof of a functional cure by ex vivo gene therapy was reported in the landmark study by Cavazzana-Calvo and colleagues using fi rst generation gamma-retroviral vectors to deliver the common gamma chain gene to CD34 + cells of patients with X-linked severe combined immunode fi ciency…”
He, H., He, Z., Lund, S. P., Turner, L., Fan, Y., Qiu, Y. F., Corney, D. C., Dropulić, B., Orentas, R. J., Slessareva, O., et al. (2025) · Molecular Therapy — Methods & Clinical Development · doi:10.1016/j.omtm.2025.101472 · Cited by 7
John, T. D., Marón, G. M., Abraham, A., Bertaina, A., Bhoopalan, S. V., Bidgoli, A., Bonfim, C., Coleman, Z., Dezern, A. E., Li, J., et al. (2024) · Cytotherapy · doi:10.1016/j.jcyt.2024.02.005 · Cited by 7
Ellison, S. M., Buckland, K. F., Learmonth, Y. I., Day, V. P., Kalra, S., Howe, L., Roman‐Rodriguez, F. J., Bonafont, J., Booth, L., Holley, R. J., et al. (2024) · Molecular Therapy — Methods & Clinical Development · doi:10.1016/j.omtm.2024.101271 · Cited by 7
Self-citationHematopoietic stem cell therapy and ex vivo gene therapy for X-linked adrenoleukodystrophy
Eichler, F., & Kuehl, J.-S. (2024) · Handbook of clinical neurology · doi:10.1016/b978-0-323-90242-7.00018-3 · Cited by 7
Self-citationLund, T. C., Orchard, P. J., Nascene, D. R., King, C. J., Braun, J., Thakkar, S., Durose, W. W., Shestopalov, I. A., Thakar, H. L., & Gupta, A. O. (2024) · Molecular Therapy · doi:10.1016/j.ymthe.2024.08.005 · Cited by 7
Self-citationTaghizadeh, L. A., King, C. J., Nascene, D. R., Gupta, A. O., Orchard, P. J., Higgins, L., Markowski, T. W., Nolan, E. E., Furcich, J. W., & Lund, T. C. (2022) · Scientific Reports · doi:10.1038/s41598-022-11552-7 · Cited by 7
Self-citationSingh, J., Goodman-Vincent, E., & Santosh, P. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms24109023 · Cited by 8
“lowest number of lentiviral copy numbers [31].”
BackgroundInfluentialMoser, A. B., Liu, Y., Shi, X., Schrifl, U., Hiebler, S., Fatemi, A. S., Braverman, N., Steinberg, S. J., & Watkins, P. A. (2021) · Journal of Cellular Biochemistry · doi:10.1002/jcb.30014 · Cited by 7
“A more recent approach, which is still under investigation, utilized ex‐vivo lentiviral transduction of autologous bone marrow stem cells and results from the initial trial in boys with CCALD show comparable results to standard allogeneic HSCT.(13) No effective therapies exist for AMN or ACALD.”
ResultChen, K., Zhang, N., Shao, J., Li, H., Li, J., Xi, J., Xu, W., & Jiang, H. (2021) · Frontiers in Pediatrics · doi:10.3389/fped.2021.672187 · Cited by 7
“Good survival outcomes were observed in patients who received allo-HSCT for the pre-symptomatic disease that has been detected by means of early findings on imaging studies (16).”
BackgroundGene therapy. The legacy of Wacław Szybalski
Dulak, J. (2021) · Acta Biochimica Polonica · doi:10.18388/abp.2020_5805 · Cited by 7
Large-scale discovery of potent, compact and erythroid specific enhancers for gene therapy vectors
Psatha, N., Sova, P., Georgolopoulos, G., Paschoudi, K., Iwata, M., Bloom, J. E., Ulyanova, T., Wang, H., Kirtsou, A., Vasiloudis, N.-I., et al. (2025) · Nature Communications · doi:10.1038/s41467-025-59235-x · Cited by 9
“Moreover,when integrating vectors are employed (lentiviral), the readout of the assay is not a transgene, but the transcription of the regulatory sequence itself (located 3 ’ to the promoter).”
Elovl1 inhibition reduced very long chain fatty acids in a mouse model of adrenoleukodystrophy
Huang, J. Y., Freed, B., Hanus, M., Keefe, K., Chiang, M. S. R., Brezzani, A., Luo, Y., Li, Y., Lam, B., Holley, S., et al. (2025) · iScience · doi:10.1016/j.isci.2025.113248 · Cited by 6
Landscape of ex vivo gene therapies: Technological trends and future prospects
Almeida-Oliveira, A., Bonamino, M., Simões, M., Martins, V. H. V., Freire, D. P. B., Danowski, A., Catão, T. P., Varela, J. D. N. E. S., Mazzi, M. T., Gottgtroy, C., et al. (2025) · Molecular Therapy — Methods & Clinical Development · doi:10.1016/j.omtm.2025.101580 · Cited by 6
Moiseenko, A., Sinadinos, A., Sergijenko, A., Pineault, K. M., Saleh, A., Nekola, K., Strang, N., Eleftheraki, A. G., Boyd, A., Davies, J. C., et al. (2024) · European Respiratory Journal · doi:10.1183/13993003.01683-2023 · Cited by 6
Yoon, J. K., Schindler, J. W., Loperfido, M., Baricordi, C., DeAndrade, M. P., Jacobs, M. E., Treleaven, C. M., Plasschaert, R. N., Yan, A., Barese, C. N., et al. (2024) · Molecular Therapy · doi:10.1016/j.ymthe.2024.09.024 · Cited by 7
Canfield, S. L. (2021) · American Journal of Health-System Pharmacy · doi:10.1093/ajhp/zxab064 · Cited by 6
Chang, C., Gupta, A. O., Orchard, P. J., Nascene, D. R., Kierstein, J., Tryon, R. K., & Lund, T. C. (2022) · F&S Reports · doi:10.1016/j.xfre.2022.12.005 · Cited by 6
Self-citationRetractedTucci, F., Consiglieri, G., Cossutta, M., & Bernardo, M. E. (2023) · HemaSphere · doi:10.1097/hs9.0000000000000953 · Cited by 8
Kim, A., & Franks, A. L. (2024) · Elsevier eBooks · doi:10.1016/b978-0-12-824060-1.00015-8 · Cited by 6
Wanders, R. J. A., Vaz, F. M., Ferdinandusse, S., Kemp, S., Ebberink, M. S., & Waterham, H. R. (2018) · Journal of Inborn Errors of Metabolism and Screening · doi:10.1177/2326409818810285 · Cited by 6
“The authors concluded that Lenti-D gene therapy is a safe and effective alternative to allogeneic stem cell transplantation in boys with early-stage CCALD.(37)”
BackgroundChemistry, manufacturing and controls for gene modified hematopoietic stem cells
Soni, S., & Kohn, D. B. (2019) · Cytotherapy · doi:10.1016/j.jcyt.2018.12.001 · Cited by 6
Luo, W., Wei, Q., Dong, H., Yan, Y., Chen, M., & Li, H. (2019) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.1065 · Cited by 7
“In addition, gene therapy is also not expected to have effect on AMN phenotype which is still under further evaluation (Eichler et al., 2017).”
BackgroundA solid start for gene therapy in Tay–Sachs disease
Yu, T. W., & Bodamer, O. A. (2022) · Nature Medicine · doi:10.1038/s41591-022-01687-5 · Cited by 6
Çiftçiler, R., Göker, H., Büyükaşık, Y., Topçu, M., Gevher, N., & Demiroğlu, H. (2019) · Transfusion and Apheresis Science · doi:10.1016/j.transci.2019.06.019 · Cited by 6
Movement Disorders and Inherited Metabolic Disorders
(2020) · Cambridge University Press eBooks · doi:10.1017/9781108556767 · Cited by 6
Exploiting Viruses to Treat Diseases
Longo, D. L., & Baden, L. R. (2018) · New England Journal of Medicine · doi:10.1056/nejme1807181 · Cited by 6
Stem cell and gene therapies for leukodystrophies
Lin, W., Zhang, M., Zheng, S., & Lian, Q. (2025) · Molecular Therapy — Methods & Clinical Development · doi:10.1016/j.omtm.2025.101527 · Cited by 7
“71 Accelerated approval pathways secured its regulatory authorization for early active CALD despite mandated 15-year post-marketing surveillance (ClinicalTrials.gov ID: NCT06224413).”
Targeting VEGF-mediated blood-brain barrier disruption in advanced cerebral leukodystrophy
Gupta, A. O., Furcich, J. W., Nascene, D. R., Kemp, S., King, C. J., Nolan, E. E., Durose, W. W., Miller, B. S., Orchard, P. J., & Lund, T. C. (2024) · Journal of Neuroimmunology · doi:10.1016/j.jneuroim.2024.578395 · Cited by 5
Self-citationWang, Q., Wang, J., Ling, Z., Cui, Z., Gong, J., Zhang, R., Li, S., Wang, Y., Yang, R., Huang, D., et al. (2024) · 中国科学通报：英文版 · doi:10.1016/j.scib.2024.04.072 · Cited by 5
Engelen, M., Kemp, S., & Eichler, F. (2024) · Handbook of clinical neurology · doi:10.1016/b978-0-323-99209-1.00022-3 · Cited by 5
Self-citationMontepeloso, A., Mattioli, D., Pellin, D., Peviani, M., Genovese, P., & Biffi, A. (2024) · Nature Communications · doi:10.1038/s41467-024-54515-4 · Cited by 6
Gene therapy for rare haematological and neurometabolic paediatric diseases
Gallo, V., & Aiuti, A. (2024) · Global Pediatrics · doi:10.1016/j.gpeds.2024.100196 · Cited by 5
Anderson, J. S., Lodigiani, A. L., Barbaduomo, C. M., & Beegle, J. R. (2024) · The Journal of Gene Medicine · doi:10.1002/jgm.3717 · Cited by 5
Diffusion Tensor Imaging in Boys With Adrenoleukodystrophy
Pierpont, E. I., Labounek, R., Gupta, A. O., Lund, T. C., Orchard, P. J., Dobyns, W. B., Bondy, M. T., Paulson, A. L., Metz, A., Shanley, R., et al. (2024) · Neurology · doi:10.1212/wnl.0000000000209764 · Cited by 5
“4-6 However, HCT must be performed at an early stage to preserve neurocognitive function 7 The severity of cerebral lesions is conventionally assessed using the radiologic scoring system developed by Loes, which tallies the number and extent of brain structures a ff ected by lesions on anatomical .”
MethodSelf-citationFadiga, L., Melo, M., Saraiva, J. C., & Paiva, I. (2021) · HORMONES · doi:10.1007/s42000-021-00325-y · Cited by 6
Typical and atypical phenotype and neuroimaging of X-linked adrenoleukodystrophy in a Chinese cohort
Mao, C., Li, J., Huang, X., Wang, J., Chu, S., Zhang, Y., Dong, L., Liu, C., Lü, L., Qiu, L., et al. (2022) · Neurological Sciences · doi:10.1007/s10072-021-05859-y · Cited by 5
“Besides, emerging gene therapies are ongoing and identification of early stage cerebral ALD before neuro-inflammation will be crucial for the prognosis of ALD patients [5].”
BackgroundAppelbaum, J., Pinto, N. R., & Orentas, R. J. (2019) · Elsevier eBooks · doi:10.1016/b978-0-323-66181-2.00011-1 · Cited by 5
Clinical Trial of MGMT(P140K) Gene Therapy in the Treatment of Pediatric Patients with Brain Tumors
Kramer, B., Singh, R. R., Wischusen, J., Dent, R. A., Rush, A., Middlemiss, S., Ching, Y. W., Alexander, I. E., & McCowage, G. B. (2018) · Human Gene Therapy · doi:10.1089/hum.2017.235 · Cited by 5
“14,16 As the first institution in Australia to treat a child with SCID-X1 as part of a larger gene therapy trial, 18 and with a focus on developing the capacity to un-dertake gene therapy trials for cancer, this study sought to develop and initiate a cancer gene therapy trial targeting HSCs in…”
2017 Was the Year We Have Been Waiting For
Wilson, J. M. (2017) · Human Gene Therapy Clinical Development · doi:10.1089/humc.2017.29030.wil · Cited by 5
Zhu, Z., Genchev, G. Z., Wang, Y., Ji, W., Zhang, X., Lu, H. J., Sriswasdi, S., & Tian, G. (2023) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-023-02673-x · Cited by 4
Castiello, M. C., Verniere, M. D., Draghici, E., Fontana, E., Penna, S., Sereni, L. P., Zecchillo, A., Minuta, D., Uva, P., Zahn, M., et al. (2023) · Frontiers in Immunology · doi:10.3389/fimmu.2023.1268620 · Cited by 7
Overview of drugs approved by the FDA in 2022
Куркин, Д. В., Morkovin, E. I., Bakulin, D. A., Gorbunova, Y. V., Kolosov, Y. A., Dzhavakhyan, M. A., Макаренко, И. Е., Васильевич, Д. Р., Zaborovsky, A. V., Shatalova, O. V., et al. (2023) · Pharmacy & Pharmacology · doi:10.19163/2307-9266-2023-11-3-193-210 · Cited by 4
Seclén, E., Jang, J. C., Lawal, A. O., Pulicani, S., Boyne, A. R., Tkach, D., Juillerat, A., Duchateau, P. N., & Valton, J. (2024) · Molecular Therapy · doi:10.1016/j.ymthe.2024.04.001 · Cited by 4
Utilizing epigenetic regulators to improve HSC-based lentiviral gene therapy
Tajer, P., Karakaslar, E. O., Canté-Barrett, K., Naber, B. A. E., Vloemans, S. A., van Eggermond, M. C. J. A., van der Hoorn, M., van den Akker, E. B., Pike‐Overzet, K., & Staal, F. J. T. (2024) · Blood Advances · doi:10.1182/bloodadvances.2024013047 · Cited by 4
Easily misdiagnosed X-linked adrenoleukodystrophy
Wang, Q., Wang, Y., Wang, J., Liu, L.-Y., Gao, J., Hao, G.-Z., Chen, C., Lü, Q., Dun, S., Zhang, Q., et al. (2024) · The Italian Journal of Pediatrics/Italian journal of pediatrics · doi:10.1186/s13052-024-01669-y · Cited by 6
“Hematopoietic stem cell transplantation (HSCT) or hematopoietic stem cell gene therapy can effectively delay the progression of neurological diseases only in the early stage of CCALD [16, 31].”
BackgroundCorazolla, E. M., Eskes, E. C. B., Veldwijk, J., Brands, M. M. M. G., Dekker, H., van de Mheen, E., Langeveld, M., Hollak, C. E. M., & Sjouke, B. (2024) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-024-03371-y · Cited by 4
Koto, Y., Hadano, N., & Sakai, N. (2024) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-024-03424-2 · Cited by 5
“The mothers also spoke of their hopes for a new treatment alternative to HSCT. Gene therapy using lentiviral vectors for ALD has shown safety and efficacy and is expected to be utilized in the future [43].”
BackgroundGene Therapy for Inherited Liver Disease: To Add or to Edit
Chen, Y., van Til, N. P., & Bosma, P. J. (2024) · International Journal of Molecular Sciences · doi:10.3390/ijms252312514 · Cited by 4
Kato, K., Yabe, H., Shimozawa, N., et al. (2021) · Pediatric Transplantation · doi:10.1111/petr.14125 · Cited by 4
Gene therapy for neurodegenerative disorders in children: dreams and realities
Boespflug‐Tanguy, O., Sevin, C., & Piguet, F. (2023) · Archives de Pédiatrie · doi:10.1016/s0929-693x(23)00225-7 · Cited by 5
Self-citationIntrathecal administration of mesenchymal stem cells in patients with adrenomyeloneuropathy
Siwek, T., Zwiernik, B., Jezierska‐Woźniak, K., Jezierska, K., Mycko, M. P., & Selmaj, K. W. (2024) · Frontiers in Neurology · doi:10.3389/fneur.2024.1345503 · Cited by 4
“Although the direct mechanism of HSCT activity is not clear, it is assumed that transplanted HSCs deliver the cellular source of the intact ABCD1 gene and corrected VLCFA ratio (12).”
BackgroundShadid, M., Shrestha, A., & Malik, P. (2024) · PLoS ONE · doi:10.1371/journal.pone.0306719 · Cited by 5
Closing In on Treatment for Hemophilia B
Porteus, M. H. (2017) · New England Journal of Medicine · doi:10.1056/nejme1713735 · Cited by 4
Inborn Errors of Non-Mitochondrial Fatty Acid Metabolism Including Peroxisomal Disorders
Wanders, R. J. A., Engelen, M., & Vaz, F. M. (2022) · Springer eBooks · doi:10.1007/978-3-662-63123-2_42 · Cited by 4
S1-Leitlinie: Leukodystrophien und hereditäre Leukenzephalopathien im Erwachsenenalter
Schöls, L. J. (2023) · DGNeurologie · doi:10.1007/s42451-023-00604-5 · Cited by 2
Burden of illness and mortality in men with Adrenomyeloneuropathy: a retrospective cohort study
Bonkowsky, J. L., Healey, B. E., Sacks, N. C., McLin, R., Cyr, P. L., Sawyer, E. K., Stephen, C. D., & Eichler, F. (2024) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-024-03276-w · Cited by 3
“Moreover, care must be individualized, given clinical heterogeneity [7].”
BackgroundSelf-citationMatsushima, S. K., Shimada, Y., Kinoshita, M., Nagashima, T., Okamoto, S., Iizuka, S., Takagi, H., Iizuka, S., Higuchi, T., Hioki, H., et al. (2025) · Journal of Clinical Investigation · doi:10.1172/jci180724 · Cited by 3
“To overcome the limitations of current treatments for LSD, gene therapy has been investigated and several gene therapy products for inherited metabolic diseases have already been approved, including therapies for metachromatic leukodystrophy (29, 30) and adrenoleukodystrophy (31, 32).”
Hematopoietic stem cell gene therapy of neurometabolic lysosomal storage diseases
Consiglieri, G., Tucci, F., & Bernardo, M. E. (2025) · Brain and Development · doi:10.1016/j.braindev.2025.104384 · Cited by 3
Genetic therapies for neurological diseases
Rahim, A. A., Kurian, M. A., Zhou, H., Ferguson, R., Tabrizi, S. J., Lignani, G., Aquilina, K., & Waddington, S. N. (2025) · Pharmacological Reviews · doi:10.1016/j.pharmr.2025.100093 · Cited by 4
“This led to successful preclinical and clinical studies in conditions such as leukodystrophies 41,42 and mucopolysacchar-idosis (MPS), 43,44 and recently the breakthrough lentiviral-based licensed drug Libmeldy (Orchard Therapeutics) for the treatment of metachromatic leukodystrophy.”
Chapleau, A., Perrier, S., Durcan, T. M., & Bernard, G. (2025) · npj Genomic Medicine · doi:10.1038/s41525-025-00533-0 · Cited by 3
Long-Term Follow-Up of Patients Receiving Cell and Gene Therapy Products
Irinyi, L., Mintzes, B. J., Warning, J., Collie, L., Rush, A., Turtle, C. J., & Byrne, J. A. (2025) · Human Gene Therapy · doi:10.1177/10430342251403439 · Cited by 3
C26:0-lysophosphatidylcholine in X-linked adrenoleukodystrophy
Jaspers, Y. R. J., Dijkstra, I. M. E., Engelen, M., & Kemp, S. (2026) · Pharmacology & Therapeutics · doi:10.1016/j.pharmthera.2026.109070 · Cited by 3
Rare Spontaneous Attenuation of Childhood Inflammatory Cerebral Adrenoleukodystrophy
Choi, H. W., Raymond, G. V., & Miller, W. P. (2019) · Journal of Pediatric Neurology · doi:10.1055/s-0039-1677805 · Cited by 3
Self-citationAdrenal insufficiency as part of X-linked adrenoleukodystrophy
Enikeeva, S., Чугунов, І., Kareva, M., Куркина, М. В., Zakharova, E. Y., Michailova, S. V., Bezlepkina, O. B., Peterkova, V. A., & Mokrysheva, N. G. (2023) · Problems of Endocrinology · doi:10.14341/probl13335 · Cited by 6
Inherited metabolic epilepsies–established diseases, new approaches
Latzer, I. T., & Pearl, P. L. (2024) · Epilepsia Open · doi:10.1002/epi4.13121 · Cited by 3
“65 68 In the last decade, a novel gene therapy, elivaldogene autotemcel (Lenti-D™, SKYSONA™), has been approved for XLALD, 69,70 showing encouraging results of stabilizing the disorder's manifestations.”
Iyer, S., Kenneson, A., Ali, N., & Gunn, G. (2025) · Journal of Primary Care & Community Health · doi:10.1177/21501319251337182 · Cited by 3
Brunetti‐Pierri, N. (2020) · Elsevier eBooks · doi:10.1016/b978-0-12-817344-2.00030-7 · Cited by 4
Morita, M., Kaizawa, T., Yoda, T., Oyama, T., Asakura, R., Matsumoto, S., Nagai, Y., Watanabe, Y., Watanabe, S., Kobayashi, H., et al. (2020) · Journal of Inherited Metabolic Disease · doi:10.1002/jimd.12346 · Cited by 3
“Recently, ex vivo gene therapy in which autologous hematopoietic stem cells are transplanted has been tested in clinical studies.(11) Although the HSCT protocols have become quite safe, graft vs host disease is still the main complication after HSCT.”
BackgroundGenetic spectrum and clinical features of adult leukoencephalopathies in a Chinese cohort
Liu, M., Wang, Y., Shi, C., Yuan, Y., Li, L., Zhang, X., Xu, Y., & Yang, J. (2023) · Annals of Clinical and Translational Neurology · doi:10.1002/acn3.51794 · Cited by 3
Recent advances in hematopoietic gene therapy for genetic disorders
Galy, A. H. M., & Dewannieux, M. (2023) · Archives de Pédiatrie · doi:10.1016/s0929-693x(23)00224-5 · Cited by 3
Accelerated Course of Cerebral Adrenoleukodystrophy After Coronavirus Disease 2019 Infection
Wang, Q., Wang, J., Wang, Y., He, W., Chen, F., Gao, J., Lu, Q., Wang, Y., Dun, S., Zhang, Q., et al. (2024) · Pediatric Neurology · doi:10.1016/j.pediatrneurol.2023.12.021 · Cited by 3
Oligodendrocytes, the Forgotten Target of Gene Therapy
Ozgür-Gunes, Y., Stunff, C. L., & Bougneres, P. F. (2024) · Cells · doi:10.3390/cells13231973 · Cited by 4
“This auto-transplantation, pioneered in gene therapy trials for CCALD, has been shown to correct neuroinflammation and stabilize demyelination for a few years [262,263].”
Development of a rabbit model for adrenoleukodystrophy: A pilot study on gene therapy using rAAV9
Zhou, X., Ma, C.-Y., Zhang, X., Xu, X., Duan, F., Kou, M., Liu, H., Zeng, L., Guo, L., Chen, S., et al. (2025) · Molecular Therapy — Nucleic Acids · doi:10.1016/j.omtn.2025.102469 · Cited by 3
“8,9 Nevertheless, 75% of patients still experience signi fi cant neurodegeneration.”
Rosewich, H., Nessler, S., Brück, W., & Gärtner, J. (2019) · Therapeutic Advances in Neurological Disorders · doi:10.1177/1756286419868133 · Cited by 3
Metadata
- Authors
- Eichler, F., Duncan, C., Musolino, P. L., Orchard, P. J., De Oliveira, S., Thrasher, A. J., Armant, M., Dansereau, C., Lund, T. C., Miller, W. P., Raymond, G. V., Sankar, R., Shah, A. J., Sevin, C., Gaspar, H. B., Gissen, P., Amartino, H., Bratkovic, D., Smith, N. J. C., Paker, A. M., Shamir, E., O’Meara, T., Davidson, D., Aubourg, P., & Williams, D. A.
- Affiliations
- Boston Children's Hospital (US)
- Bluebird Bio (United States) (US)
- ORCID
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 2017-10-26
- Volume
- 377
- Issue
- 17
- Pages
- 1630-1638
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- PMC
- PMC5708849
- OpenAlex
- W2764213443
- Cited by
- 604
- References
- 31
- Citations by year
- 2026: 47 · 2025: 43 · 2024: 96 · 2023: 60 · 2022: 67 · 2021: 79 · 2020: 60 · 2019: 75 · 2018: 63 · 2017: 11
- FWCI
- 37.84
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- New England Journal of Medicine (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- UCL Discovery (University College London) (submittedVersion)
- eScholarship (California Digital Library) (submittedVersion)
- Funders
- Wellcome Trust (104807/Z/14/Z)
- National Institutes of Health (UL1TR001102)
- National Institute of Neurological Disorders and Stroke (K08NS094683)
- National Center for Advancing Translational Sciences
- 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
- cerebral adrenoleukodystrophy, X-linked adrenoleukodystrophy, ABCD1, hematopoietic stem cell gene therapy, lentiviral vectors, demyelination, neurodegeneration, graft-versus-host disease, functional disability, early-stage disease
- MeSH terms
- ATP Binding Cassette Transporter, Subfamily D, Member 1, Adolescent, Adrenoleukodystrophy, Child, Combined Modality Therapy, Genetic Vectors, Hematopoietic Stem Cells, Humans, Male, Transplantation, Autologous, Genetic Therapy, Biomarkers, Lentivirus, Polymerase Chain Reaction, Granulocyte Colony-Stimulating Factor, Hematopoietic Stem Cell Transplantation, ATP-Binding Cassette Transporters, Antigens, CD34
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