Survival analysis of haematopoietic cell transplantation for childhood cerebral X-linked adrenoleukodystrophy: a comparison study
Abstract
Background Favourable outcomes have been reported for patients with childhood cerebral adrenoleukodystrophy (CCALD) who had received haematopoietic cell transplantation (HCT) at the early stage of cerebral involvement. However, comparative data for non-transplanted CCALD patients are limited. We analysed survival of CCALD patients who had not received HCT and, in a subgroup with early cerebral disease, compared survival in those who underwent HCT with those who did not. Methods Retrospective survival analyses were done on 283 CCALD patients identified at the Kennedy Krieger Institute who had not received HCT, focusing on a 30-member early stage cerebral subgroup whose neurological disability and MRI severity scores matched those in a 19-member transplanted subgroup previously reported. A Kaplan-Meier survival curve and log-rank test were used for survival analysis and to estimate the difference between the survival probabilities of the groups with statistical significance set at alpha=0.05. Findings Mean age at onset of symptoms in the entire 283 non-transplanted group was 7 years (SD 2 years). 131 (46%) patients died during the mean follow-up period of 5.9 years (5.3) at a mean age of 12.3 years (4.9). 5-year survival was 66%. The 5-year survival probability of 54% in the early stage group was significantly poorer (chi(2)=7.47, p=0.006) than the 5-year survival of 95% in the transplanted group with early stage cerebral disease. Interpretation HCT done in the early and progre…
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The risk of developing cerebral disease is highest in childhood but remains present throughout life.
“The risk of developing cerebral disease is highest in childhood but remains present throughout life.1,29,33-39”
From International Recommendations for the Diagnosis and Management of Patients With Adrenoleukodystrophy (2022) · cites this paper as [36]
Cites
Moser, H. W., Mahmood, A., & Raymond, G. V. (2007) · Nature Clinical Practice Neurology · doi:10.1038/ncpneuro0421 · Cited by 663 · see citing works
Self-citationAubourg, P., Blanche, S., Jambaqué, I., Rocchiccioli, F., Kalifa, G., Naud-Saudreau, C., Rolland, M.-O., Debré, M., Chaussain, J.-L., Griscelli, C., et al. (1990) · New England Journal of Medicine · doi:10.1056/nejm199006283222607 · Cited by 366 · see citing works
Shapiro, E., Krivit, W., Lockman, L., Jambaqué, I., Peters, C., Cowan, M., Harris, R., Blanche, S., Bordigoni, P., Loes, D., et al. (2000) · The Lancet · doi:10.1016/s0140-6736(00)02629-5 · Cited by 329 · see citing works
Self-citationAdrenoleukodystrophy: Incidence, new mutation rate, and results of extended family screening
Bezman, L., Moser, A. B., Raymond, G. V., Rinaldo, P., Watkins, P. A., Smith, K. D., Kass, N. E., & Moser, H. W. (2001) · Annals of Neurology · doi:10.1002/ana.101 · Cited by 324 · see citing works
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Hematopoietic stem-cell gene therapy for cerebral adrenoleukodystrophy
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., et al. (2017) · New England Journal of Medicine · doi:10.1056/nejmoa1700554 · Cited by 604 · see citing works
Self-citationCartier, N., & Aubourg, P. (2010) · Brain Pathology · doi:10.1111/j.1750-3639.2010.00394.x · Cited by 151 · see citing works
International Recommendations for the Diagnosis and Management of Patients With Adrenoleukodystrophy
Engelen, M., van Ballegoij, W. J. C., Mallack, E. J., Van Haren, K. P., Köhler, W., Salsano, E., van Trotsenburg, A. S. P., Mochel, F., Sevin, C., Regelmann, M. O., et al. (2022) · Neurology · doi:10.1212/wnl.0000000000201374 · Cited by 156 · see citing works
Self-citationKemper, A. R., Brosco, J., Comeau, A. M., Green, N. S., Grosse, S. D., Jones, E., Kwon, J. M., Lam, W. K. K., Ojodu, J., Prosser, L. A., et al. (2017) · Genetics in Medicine · doi:10.1038/gim.2016.68 · Cited by 109 · see citing works
Bergner, C. G., van der Meer, F., Winkler, A., Wrzos, C., Türkmen, M., Valizada, E., Fitzner, D., Hametner, S., Hartmann, C., Pfeifenbring, S., et al. (2019) · Glia · doi:10.1002/glia.23598 · Cited by 94 · see citing works
Kühl, J.-S., Suarez, F., Gillett, G. T., Hemmati, P. G., Snowden, J. A., Stadler, M., Vuong, G. L., Aubourg, P., Köhler, W., & Arnold, R. (2017) · Brain · doi:10.1093/brain/awx016 · Cited by 78 · see citing works
Mallack, E. J., Gao, K., Engelen, M., & Kemp, S. (2022) · Cells · doi:10.3390/cells11020283 · Cited by 60 · see citing works
“Asymptomatic boys are monitored for adrenal insufficiency [57] and by MRI [58] to detect early cerebral lesions, with the aim of intervention in the narrow window prior to symptom onset [41,57,58].”
BackgroundABCD1 dysfunction alters white matter microvascular perfusion
Lauer, A., Da, X., Hansen, M. B., Boulouis, G., Ou, Y., Cai, X., Liberato Celso Pedrotti, A., Kalpathy-Cramer, J., Caruso, P., Hayden, D. L., et al. (2017) · Brain · doi:10.1093/brain/awx262 · Cited by 48 · see citing works
- Authors
- Mahmood, A., Raymond, G. V., Dubey, P., Peters, C., & Moser, H. W.
- Affiliations
- Kennedy Krieger Institute (US)
- MetroWest Medical Center (US)
- Children's Mercy Hospital (US)
- Corresponding author
- Raymond, Gerald V
- Venue
- The Lancet Neurology
- Publisher
- Elsevier BV
- Published
- 2007-08
- Volume
- 6
- Issue
- 8
- Pages
- 687-692
- ISSN
- 1474-4422 (ISSN-L)
- OpenAlex
- W2154923434
- Cited by
- 193
- References
- 4
- Citations by year
- 2026: 5 · 2025: 9 · 2024: 18 · 2023: 12 · 2022: 18 · 2021: 17 · 2020: 15 · 2019: 21 · 2018: 11 · 2017: 13 · 2016: 6 · 2015: 2 · 2014: 9 · 2013: 7 · 2012: 2
- FWCI
- 4.47
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- The Lancet Neurology (publishedVersion)
- PubMed (publishedVersion)
- Funders
- U.S. Public Health Service (M0-1-R00052)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (R01HD039276, HD39276)
- Topics
- Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Virus-based gene therapy research
- Keywords
- cerebral adrenoleukodystrophy, X-linked adrenoleukodystrophy, haematopoietic cell transplantation, childhood cerebral adrenoleukodystrophy, survival, treatment timing, neurological deficit
- MeSH terms
- Adrenoleukodystrophy, Child, Female, Humans, Immunosuppressive Agents, Longitudinal Studies, Magnetic Resonance Imaging, Male, Retrospective Studies, Time Factors, Survival Analysis, Treatment Outcome, Disease Progression, Stem Cell Transplantation
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