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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 Another patient, who had had evidence of disease progression on MRI, had withdrawn from the study to undergo allogeneic stem-cell transplantation and later died from transplantation-related complications.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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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
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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
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Items 401–500 of 606
Gene Therapy for Cerebral Adrenoleukodystrophy
Williams, D. A., Eichler, F., & Duncan, C. (2018) · New England Journal of Medicine · doi:10.1056/nejmc1715427 · Cited by 3
Self-citation[Research progress of gene therapy in clinical application].
Chen, X., Chen, L., & Li, D. (2019) · PubMed · doi:10.13345/j.cjb.190363 · Cited by 3
“期,并且具有更加安全的整合方式,因而成为目前 基因治疗中应用较为广泛的载体([22])。针对原发性 免疫缺陷病、X 连锁严重联合免疫缺陷 (X-SCID) 和 Wiskott-Aldrich 综合征的慢病毒基因递送治疗 已有报道,并且与其 γ-逆转录病毒载体治疗相比, 安全性更高([23])。使用慢病毒载体基因改造 HSCs 治疗遗传性神经系统疾病(Adrenoleukodystrophy, ALD)和异染性脑白质营养不良 (Metachromatic leukodystrophy, MLD)也显示出了积极的治疗效 果([24-27]),类似的方法也被用于血红蛋白病的治疗, 其中包括一例针对镰状细胞病的患者([28])。此前一 项…”
InfluentialAdrenal Insufficiency by Adrenoleukodystrophy
Botelho, E. C. M., Botelho, E. R. S., Rodrigues, L. C. D. S., Wanderley, T. P., Queiroz, F. N., Borges, P. C. G., CRUZ, S. A. R. A. X., da Silva, J. P., de Sá, L. B. P. C., & Arbex, A. K. (2020) · Health · doi:10.4236/health.2020.121001 · Cited by 3
“The rest consists of infectious, neoplastic, hemorrhagic, drug, and hereditary causes such as adrenoleukodystrophy (ALD) or adrenomyeloneuropathy (AMN) [2].”
BackgroundInfluentialNew insights on stem cells modeling and treatment of human diseases
Rai, G. (2020) · Frontiers in bioscience · doi:10.2741/4868 · Cited by 3
“Nowadays more than 200 patients worldwide have been treated by LV based HSC gene therapy for several diseases, including ALD (52), MLD (53), WAS (54), chronic granulomatous disorder (CGD), some primary immunodeficiencies (42, 55), mucopolysacc-haridoses, thalassemia sickle cell disease (56-59), Fanconi anemia (60) and…”
BackgroundTeber, T. A., Conti, B. J., Haynes, C. A., Hietala, A. D., & Baker, M. W. (2022) · International Journal of Neonatal Screening · doi:10.3390/ijns8020027 · Cited by 3
“The positive intercept indicated a low level of background that can be attributed to either noise or, ore likely, endogenous C26:0‐LPC in the background matrix of blood cells and plasma observed in previous eports [2,9,11,12,20,25].”
BackgroundResultChen, J., Xiong, G., Luo, D.-Y., et al. (2022) · European Journal of Inflammation · doi:10.1177/1721727x221091532 · Cited by 3
“In the AAA + Daxx + AKT group, the rats were infused with Daxx virus fluid and AKT virus fluid.(14) After 14 days of infusion, all rats were sacrificed, and their aortic tissues were removed for analysis.”
MethodFaust, P. L. (2018) · Wiley eBooks · doi:10.1002/9781119013112.ch31 · Cited by 3
Chaudhary, R., Rehman, M., Agarwal, V., Kumar, A., Kaushik, A. S., Srivastava, S., Srivastava, S., Verma, R., Rajinikanth, P. S., & Mishra, V. (2024) · Life Sciences · doi:10.1016/j.lfs.2024.122953 · Cited by 3
Newborn screening of neurometabolic diseases for early treatment
Chien, Y., & Hwu, W. (2025) · Brain and Development · doi:10.1016/j.braindev.2025.104323 · Cited by 2
Marten, L. M., Lüttgens, M. S., Berečić, B., Tiburcy, M., Brüser, C., Gupta, S., Jakobs, S., Ammer, E., Ohlenbusch, A., Krätzner, R., et al. (2025) · Free Radical Biology and Medicine · doi:10.1016/j.freeradbiomed.2025.10.289 · Cited by 2
Gene Therapy–Related Malignancy and the Risk of Cancer Exceptionalism
Benedetti, D. J., Marron, J. M., & Kodish, E. D. (2026) · Journal of Clinical Oncology · doi:10.1200/jco-25-01844 · Cited by 2
Cellules humaines à usage thérapeutique : état de la question
Guilhot, F. (2020) · Bulletin de l Académie Nationale de Médecine · doi:10.1016/j.banm.2020.07.051 · Cited by 3
Wadhwa, A., Chen, Y., Hageman, L., Schlichting, E., Funk, E., Hicks, J., Balas, N. A., Siler, A., Wu, J., Francisco, L., et al. (2021) · Transplantation and Cellular Therapy · doi:10.1016/j.jtct.2021.11.023 · Cited by 2
Self-citationKoto, Y., Ueki, S., Yamakawa, M., & Sakai, N. (2022) · JBI Evidence Synthesis · doi:10.11124/jbies-22-00154 · Cited by 2
Mohan, S., Mayers, M., Weaver, M. A., Baudet, H., Biase, I. D., Goldstein, J., Mao, R., McGlaughon, J., Moser, A. B., Pujol, A., et al. (2023) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2023.107604 · Cited by 2
Mallack, E. J., Wang, C., Kim, J., & Ross, M. E. (2024) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.63790 · Cited by 2
“…approaches for the treatment of multiple leukodystrophies are now available to patients, including childhood cerebral adrenoleukodystrophy (Eichler et al., 2017) and for childhood forms of metachromatic leukodystro-phy (Sessa et al., 2016), with multiple others in preclinical development…”
Zhang, L., Yu, Y. F., Liu, T., Li, C., Tan, L., & Wen, S. (2025) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-024-03499-x · Cited by 2
Seizures in childhood cerebral adrenoleukodystrophy
Page, N., Nagy, A. M., Eichler, F., & Ream, M. A. (2025) · Developmental Medicine & Child Neurology · doi:10.1111/dmcn.16321 · Cited by 2
Self-citationApplication Advances of Lentiviral Vectors: From Gene Therapy to Vaccine Development
Fang, E., He, G., Chang, Y., He, Q., Chen, P., & Hu, K. (2025) · Molecular Biotechnology · doi:10.1007/s12033-025-01472-y · Cited by 2
Ahrens‐Nicklas, R. C. (2022) · Molecular Therapy · doi:10.1016/j.ymthe.2022.03.006 · Cited by 2
Rybarikova, M., Almacellas‐Barbanoj, A., Schorge, S., & Déglon, N. (2022) · Human Gene Therapy · doi:10.1089/hum.2022.177 · Cited by 2
Optimizing Treatment for Cerebral Adrenoleukodystrophy in the Era of Gene Therapy
Engelen, M. (2017) · New England Journal of Medicine · doi:10.1056/nejme1709253 · Cited by 2
Gene therapy for children with AADC deficiency
Wiznitzer, M. (2017) · The Lancet Child & Adolescent Health · doi:10.1016/s2352-4642(17)30124-4 · Cited by 2
Imanaka, T. (2018) · YAKUGAKU ZASSHI · doi:10.1248/yakushi.18-00023 · Cited by 2
Progresses in Gene Therapy of Neurodegenerative Disorders
Chatterjee, T. (2018) · Online Journal of Neurology and Brain Disorders · doi:10.32474/ojnbd.2018.01.000103 · Cited by 2
“Results of this study suggested the promise of gene therapy in early-stage cerebral adrenoleukodystrophy [20].”
ResultTherapeutic Strategies for X-Linked Adrenoleukodystrophy, a Representative Peroxisomal Disorder
Morita, M. (2019) · Springer eBooks · doi:10.1007/978-981-15-1169-1_8 · Cited by 2
Arora, V., Bijarnia‐Mahay, S., Dubey, S., & Saxena, R. (2020) · Molecular Syndromology · doi:10.1159/000510480 · Cited by 2
“It is important to recognize such rare disorders in light of emerging gene therapies – an example being that of X-linked adrenoleukodystrophy [Eichler et al., 2017].”
BackgroundFalse-positive very long-chain fatty acids in a case of autoimmune adrenal insufficiency
Zhu, J., & Breault, D. T. (2020) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem-2020-0652 · Cited by 2
Current status of producing autologous hematopoietic stem cells
Li, Z., & Yang, L. (2023) · Current Research in Translational Medicine · doi:10.1016/j.retram.2023.103377 · Cited by 2
Exploratory study of autophagy inducer sirolimus for childhood cerebral adrenoleukodystrophy
Luo, X., Liu, L., Wang, Q., Wang, Y., Wang, J., Yang, X.-Y., Li, S., & Zou, L. (2023) · Frontiers in Pediatrics · doi:10.3389/fped.2023.1187078 · Cited by 2
“Moreover, there are risks of transplant failure and complication of the conditioning regimen (21, 22).”
BackgroundInborn Errors of Metabolism and Osteopetrosis
Wynn, R. F., & Schulz, A. (2024) · Springer eBooks · doi:10.1007/978-3-031-44080-9_91 · Cited by 2
Bethin, K. E., Majumdar, I., & Muglia, L. J. (2024) · Springer eBooks · doi:10.1007/978-3-031-66296-6_10 · Cited by 2
Gene therapy success for cerebral adrenoleukodystrophy
Ridler, C. E. (2017) · Nature Reviews Neurology · doi:10.1038/nrneurol.2017.152 · Cited by 2
Clayton, B. L. L., Allan, K. C., Nevin, Z. S., Elitt, M. S., & Tesar, P. J. (2020) · Elsevier eBooks · doi:10.1016/b978-0-12-814409-1.00013-6 · Cited by 2
Shimozawa, N. (2019) · Springer eBooks · doi:10.1007/978-981-15-1169-1_5 · Cited by 2
Successful Correction of ALD Patient-derived iPSCs Using CRISPR/Cas9Preprint
Jung, E. S., Quan, Z., Chang, M., Hong, W., Kim, J. H., Kim, S. H., You, S., Kim, D., Jang, J., Lee, S., et al. (2020) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2020.02.23.962118 · Cited by 2
Editorial: Ex-vivo and in-vivo genome engineering for metabolic and neurometabolic diseases
Colella, P., Meneghini, V., Baldo, G., & Gomez‐Ospina, N. (2023) · Frontiers in Genome Editing · doi:10.3389/fgeed.2023.1248904 · Cited by 2
“, 2022) and X-linked adrenoleukodystrophy (X-ALD) (Cartier et al., 2012; Eichler et al., 2017; Tucci et al., 2021) paved the way for the current pre-clinical development of autologous transplantation of genomeedited HSPCs for the treatment of LSDs.”
BackgroundGlial Origins of Inherited White Matter DisordersPreprint
Sevagamoorthy, A., Vanderver, A. L., Fraser, J. L., & Orthmann‐Murphy, J. L. (2024) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a041457 · Cited by 2
Identification of a Novel Non-Canonical Splice-Site Variant in ABCD1
Zheng, F., Lin, Z., Hu, Y., Shi, X., Zhao, Q., & Lin, Z. (2023) · Journal of Clinical Medicine · doi:10.3390/jcm12020473 · Cited by 1
“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).”
MethodMoscatelli, M. E. M., Benzoni, C., Doniselli, F. M., Verri, M., Pascuzzo, R., Aquino, D., Mazzi, F., Erbetta, A., & Salsano, E. (2023) · European Radiology Experimental · doi:10.1186/s41747-023-00373-6 · Cited by 1
“Contrast enhancement strongly predicts disease progression, reflecting inflammation associated with bloodbrain barrier breakdown, and its mere presence has been deemed necessary for a patient with cerebral demyelinating lesions to be candidate for hematopoietic stem-cell gene therapy or hematopoietic stem-cell transpl…”
BackgroundChen, Y., Li, D., Peng, X., Zhang, A., Chen, X., & Chen, Y. (2024) · Medicine · doi:10.1097/md.0000000000036946 · Cited by 1
“…infusion of autologous CD34 + cells transduced with Lenti-D lentiviral vectors suggested that Lenti-D gene therapy may be a safe and effective alternative to allogeneic stem cell transplantation [5] ; however, further, follow-up is needed to fully assess the response duration and long-term safety.”
BackgroundA case of primary adrenal insufficiency unfolding itself as a genetic syndrome
Garg, N., Mudraje, S., Jindal, S., Khare, J., & Bansal, S. (2024) · IJEM Case Reports · doi:10.4103/ijemcr.ijemcr_48_23 · Cited by 1
Clinical and biochemical footprints of inherited metabolic diseases: Ia. Movement disorders, updated
Peacock, D. J. S. J., Ferreira, C. R., Horvath, G. A., Hoffmann, G. F., Blau, N., & Ebrahimi‐Fakhari, D. (2025) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2025.109084 · Cited by 4
Neurofilament light chain as a prognostic marker in cerebral adrenoleukodystrophy
Pierpont, E. I., Gupta, A. O., Eisengart, J. B., Shanley, R., Evans, R. O., Loes, D. J., Nascene, D. R., Narayanan, S., Orchard, P. J., & Lund, T. C. (2025) · Brain · doi:10.1093/brain/awaf359 · Cited by 1
“8,9 However, neurocognitive impairments that develop prior to treatment tend to be irreversible, and even when lesion growth is arrested, losses of function can continue in more advanced cases.”
Self-citationWang, M., Zhou, T., Liu, S., Xiang, W., Xie, K., Zhang, X.-Q., Hu, W.-X., Fang, M., Zhang, Z., Chen, M.-M., et al. (2026) · Frontiers in Pharmacology · doi:10.3389/fphar.2026.1715984 · Cited by 3
CSF and plasma neuro-biomarker dynamics after gene therapy for cerebral adrenoleukodystrophy
Lund, T. C., Gupta, A. O., Kemp, S., Loes, D. J., Nascene, D. R., & Orchard, P. J. (2026) · Molecular Therapy Advances · doi:10.1016/j.omta.2026.201702 · Cited by 1
“The overall clinical responses to GT have shown disease stabilization in most boys, 9,33 which was similar to boys with low disease burden who underwent allogeneic HCT. 10,34 Our study is limited by a small sample size and a lack of healthy controls, although the cohort did demonstrate a range of…”
Self-citationClinical pharmacology insights from recent cell and gene therapy approvals relevant to pediatrics
Kunanayagam, S., Wang, M. C., Loucks, C. M., García‐Bournissen, F., Verstegen, R. H. J., & Lewis, T. R. (2026) · Pediatric Research · doi:10.1038/s41390-026-05138-6 · Cited by 1
Zhou, Y., Abraham, D. M., Hosuru, R. V., Hayal, T. B., Gin, A. L., Fan, X., Lee, B.-C., Shin, T., Potter, E. L., Hong, S. G., et al. (2026) · Cell Reports · doi:10.1016/j.celrep.2026.117561 · Cited by 1
Elsabbagh, E. M., Shawky, A. A., & Dvorak, C. C. (2026) · Pediatric Annals · doi:10.3928/19382359-20260628-01 · Cited by 1
Turning the corner from observation to intervention in human genetics
Nelson, D. L. (2018) · Journal of genetics and genomics/Journal of Genetics and Genomics · doi:10.1016/j.jgg.2018.01.004 · Cited by 1
Recent progress in gene therapies for mucopolysaccharidoses
Ginocchio, V. M., & Brunetti‐Pierri, N. (2018) · Expert Opinion on Orphan Drugs · doi:10.1080/21678707.2018.1529564 · Cited by 1
Gene Therapy for Pediatric Neurologic Disease
Jimenez‐Kurlander, L., & Duncan, C. (2022) · Hematology/Oncology Clinics of North America · doi:10.1016/j.hoc.2022.05.003 · Cited by 1
Self-citationWanders, R. J. A., Klouwer, F. C. C., Engelen, M., & Waterham, H. R. (2022) · Springer eBooks · doi:10.1007/978-3-030-67727-5_66 · Cited by 1
Can We Generalize Key Principles in the Care of Rare Diseases?
Carlson, M. D., & Kang, P. B. (2022) · Neurology · doi:10.1212/wnl.0000000000201400 · Cited by 1
“Newer treatments such as autologous ex vivo gene-corrected transplantation for cerebral ALD are also being studied.(6)”
BackgroundHematopoietic Transplantation: Past, Present, and Future
Champlin, R. E., & Bashir, Q. (2023) · Elsevier eBooks · doi:10.1016/b978-0-323-79833-4.00001-2 · Cited by 1
Gragnaniello, V., Gueraldi, D., Puma, A., Commone, A., Cazzorla, C., Loro, C., Porcù, E., Stornaiuolo, M., Miglioranza, P., Salviati, L., et al. (2023) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-023-02940-x · Cited by 1
Malani, S. N., Acharya, S., & Shukla, S. (2023) · Cureus · doi:10.7759/cureus.51030 · Cited by 1
“The results of MLD therapy in NHPs are encouraging, but they also indicate how important it is to be careful with large doses [33].”
BackgroundGene Editing in Hematopoietic Stem Cells
Liao, J., & Wu, Y. (2023) · Advances in experimental medicine and biology · doi:10.1007/978-981-99-7471-9_11 · Cited by 2
Vapljanin, M., Milosavljević, M. N., & Јаnkovic, S. (2024) · Biotechnology & Biotechnological Equipment · doi:10.1080/13102818.2024.2342888 · Cited by 1
Ward, D. I., Saifeddine, M., & Gogoi, M. (2024) · Elsevier eBooks · doi:10.1016/b978-0-323-95735-9.00046-2 · Cited by 1
Approaches to diagnosis for individuals with a suspected inherited white matter disorder
Helman, G., Orthmann‐Murphy, J. L., & Vanderver, A. L. (2024) · Handbook of clinical neurology · doi:10.1016/b978-0-323-99209-1.00009-0 · Cited by 1
Choi, E.-Y., Wolfe, J. H. N., & Kaler, S. G. (2025) · Human Molecular Genetics · doi:10.1093/hmg/ddae201 · Cited by 1
Hematopoietic stem cell gene therapy: progress and challenges
Zhang, X., Cheng, T., & Zhang, J. (2017) · Scientia Sinica Vitae · doi:10.1360/n052017-00268 · Cited by 1
Kloesel, B., Dua, N., Eskuri, R., Hall, J., Cohen, M., Richtsfeld, M., & Belani, K. G. (2019) · Pediatric Anesthesia · doi:10.1111/pan.13786 · Cited by 1
Newest therapeutic options for adrenoleukodystrophy
Gołębiowska, M., Gołębiowska, B., & Beń‐Skowronek, I. (2018) · World Scientific News · Cited by 1
Natural history of brain lesions in X-linked adrenoleukodystrophy
Stone, R. T., & van Haren, K. P. (2020) · Neurology · doi:10.1212/wnl.0000000000009628 · Cited by 1
“Hints of this phenomenon may also be inferred from recent descriptions of “stuttering” lesion activity following lentivirus-mediated gene therapy, which confers healthy ABCD1 expression in some but not all of a patient’s immune cells.(10)”
BackgroundGenotype–phenotype considerations in neurogenetic disease
Fogel, B. L. (2020) · Elsevier eBooks · doi:10.1016/b978-0-12-813955-4.00004-0 · Cited by 1
Overview and Principles of Pediatric Endocrinology
Sperling, M. A. (2021) · Elsevier eBooks · doi:10.1016/b978-0-323-62520-3.00001-4 · Cited by 2
Molecular Endocrinology, Endocrine Genetics, and Precision Medicine
Menon, R. K., Trucco, M., Majzoub, J. A., & Stratakis, C. A. (2021) · Elsevier eBooks · doi:10.1016/b978-0-323-62520-3.00002-6 · Cited by 1
Retroviral Vectors for Gene Therapy of Monogenic Diseases
Yoder, K. E., Rabe, A. J., & Larue, R. C. (2022) · Springer eBooks · doi:10.1007/978-3-030-93333-3_7 · Cited by 1
Les thérapies géniques en neurologie
de Courssou, J.-B. B., & Deiva, K. (2023) · Pratique Neurologique - FMC · doi:10.1016/j.praneu.2023.08.002 · Cited by 1
Vesiculovirus G protein-based stable cell lines for continuous lentiviral vector production
Tijani, M. (2018) · UCL Discovery (University College London) · Cited by 1
Identification of two novel mutations of ABCD1 gene in pedigrees with X‐linked adrenoleukodystrophyPreprint
Dong, B., Lv, W., Xu, L., Zhao, Y., Sun, X., Cheng, B., & Wang, Y. (2020) · Research Square · doi:10.21203/rs.3.rs-86131/v1 · Cited by 1
Genetically engineered microglia-like cells have therapeutic potential for neurodegenerative diseasePreprint
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. (2021) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2021.09.16.460703 · Cited by 1
Han, N., Li, Y., Ouyang, W., Dong, G., Guo, H., Chen, Y., Huang, Y., Zeng, X., Zou, H., He, J., et al. (2023) · medRxiv · doi:10.1101/2023.03.21.23287513 · Cited by 1
Large-scale discovery of potent, compact and lineage specific enhancers for gene therapy vectorsPreprint
Psatha, N., Sova, P., Georgolopoulos, G., Paschoudi, K., Iwata, M., Bloom, J. E., Ulyanova, T., Wang, H., Kirtsou, A., Vasiloudis, N.-I., et al. (2023) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2023.10.04.559165 · Cited by 1
In the Pipeline-Cerebral Adrenoleukodystrophy
Talan, J. (2017) · Neurology Today · doi:10.1097/01.nt.0000527318.57197.2d
Most Recent Clinical Advances in CAR T Cell and Gene Therapy 2017/2018
Abutalib, S. A., & Gill, S. I. (2018) · Advances and controversies in hematopoietic transplantation and cell therapy · doi:10.1007/978-3-319-54368-0_2
Development, Implementation, and Use of a Neurology Therapeutics Committee
Clark, E. B., Butterfield, R. J., Filloux, F. M., & Bonkowsky, J. L. (2019) · Child Neurology Open · doi:10.1177/2329048x19830473
“Other therapies including gene therapy for spinal muscular atrophy and hematopoietic stem cell gene therapy for X-linked adrenoleukodystrophy (ALD) are in clinical trials and will likely be approved soon.(5,6) In addition, rapid advances in stem cell therapies and gene therapies may herald a new age for many previousl…”
BackgroundAerts‐Kaya, F., Güney-Esken, G., & Erol, Ö. D. (2019) · Trakya University Journal of Natural Sciences · doi:10.23902/trkjnat.483402
“Although 2 of these 17 patients showed disease progression, the remaining 15 patients had stable expression of the ALD protein (Eichler et al. 2017).”
BackgroundIn ALD, I feel the need for speed
Kharbanda, S., & Dvorak, C. C. (2019) · Blood · doi:10.1182/blood-2019-02-897629
Bringing balance to the force–regulatable gene therapy for epilepsy
Ruiz, A. J., & Rahim, A. A. (2019) · Gene Therapy · doi:10.1038/s41434-019-0083-6
de Paiva, A. R. B. (2019) · Digital Library of Theses and Dissertations (Universidade de São Paulo) · doi:10.11606/t.5.2019.tde-16102019-142301
Gene therapy for childhood neuromuscular and neurodegenerative disorders: An update
Panda, P. (2019) · Indian Journal of Health Sciences and Biomedical Research (KLEU) · doi:10.4103/kleuhsj.kleuhsj_81_19
“In X‐linked ALD, mutations in ABCD1 lead to loss of function of the ALD protein.[25] It ultimately results in the demyelination of cerebral white matter, spasticity and neurodegeneration, and finally death.”
BackgroundTHE DEVELOPMENT of a SAFE and OPTIMIZED GENE THERAPY for HUMAN DISEASES
Supit, A. S. A., & Tompodung, L. M. (2019) · JURNAL BIOSAINS · doi:10.24114/jbio.v5i3.12472
Klump, H. (2020) · Learning materials in biosciences · doi:10.1007/978-3-030-33923-4_1 · Cited by 1
Progressive hemiparesis reveals X-linked adrenoleukodystrophy in a 3.5-year-old boy
Kosseifi, C. E., Seddiki, K., Dumitriu, D., & Nassogne, M. (2020) · Acta Neurologica Belgica · doi:10.1007/s13760-020-01306-5
Psychiatric Symptoms Associated with Inborn Errors of Metabolism
Turkel, S. B., Wong, D. A., & Randolph, L. M. (2020) · SN Comprehensive Clinical Medicine · doi:10.1007/s42399-020-00403-z
“Gene therapy for ADL using elivaldogene tavalentivec viral vector may provide an alternative to bone marrow transplant [97].”
BackgroundSuccesses in Gene Therapy: 2017
Hoggatt, J. (2018) · The Hematologist · doi:10.1182/hem.v15.1.8173
Chaudhry, C., Panigrahi, I., & Srivastava, P. (2020) · Journal of Case Reports · doi:10.17659/01.2020.0054
“Gene therapy with Lenti D lentiviral vectors are currently under trials [5,6].”
BackgroundAdrenomieloneuropatía como forma de presentación de adrenoleucodistrofia: reporte de caso
Ladera-Córdova, M., Condori-Chacón, C., Torrejón, O. O. R., Alva‐Díaz, C., Quicaño, K. V., Terreros, A., Mori, N., Shchegolikhina, U., Romero-Sanchez, R., & Pacheco‐Barrios, K. (2020) · Neurología Argentina · doi:10.1016/j.neuarg.2020.09.003
Medicina di precisione: miti e realtà
Amoroso, S., Baldo, F., Bettini, L. R., Rossini, B., & Nucera, S. (2021) · Medico e Bambino · doi:10.53126/meb40018
Gracia Quejereta: Una madrileña en Oxford
Rioyo, J. (1996) · Cinemanía
Prenatal Diagnosis of the Peroxisomal and Mitochondrial Fatty Acid Oxidation Deficiencies
Wanders, R. J. A., & Waterham, H. R. (2021) · doi:10.1002/9781119676980.ch24
Mahdieh, N., Soveizi, M., Tavasoli, A. R., Rabbani, A., Ashrafi, M. R., Kohlschütter, A., & Rabbani, B. (2020) · Research Square · doi:10.21203/rs.3.rs-93329/v1
Adrenomyeloneuropathy with cerebral involvement due to a novel frameshift variant in ABCD1 gene
Kim, H. W., Kim, H., Jeong, D.-Y., Chung, K., Lee, E., Lim, Y., & Kim, K. (2021) · Annals of Clinical Neurophysiology · doi:10.14253/acn.2021.23.1.61
X-linked adrenoleukodystrophy in a pediatric patient: A case report
López-Uriarte, G. A., Hinojosa-Amaya, L. G., Baolboa, L. G. P., & Medina-Cruz, E. D. J. (2021) · Medicina Universitaria · doi:10.24875/rmu.20000083
Paunovic, S., Koehler, W., & Knechtle, B. (2021) · Praxis · doi:10.1024/1661-8157/a003674
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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