Newborn Screening and Emerging Therapies for X-Linked Adrenoleukodystrophy
Abstract
This Viewpoint discusses emerging therapies for X-linked adrenoleukodystrophy, an inherited disorder affecting the adrenals and nervous system white matter, and empahsizes the importance of newborn screening.
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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.
“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 [49]
Prompt diagnosis can improve the prognosis of CALD in boys.
“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 [3]
The well-established treatments for CALD are useful only as the first signs of abnormalities are noted on MRI, before the onset of any neurological symptoms.
“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 [3]
Cites
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
Adrenoleukodystrophy—Neuroendocrine pathogenesis and redefinition of natural history
Kemp, S., Huffnagel, I. C., Linthorst, G. E., Wanders, R. J., & Engelen, M. (2016) · Nature Reviews Endocrinology · doi:10.1038/nrendo.2016.90 · Cited by 275 · see citing works
Analysis of MRI patterns aids prediction of progression in X-linked adrenoleukodystrophy
Loes, D. J., Fatemi, A., Melhem, E. R., Gupte, N., Bezman, L., Moser, H. W., & Raymond, G. V. (2003) · Neurology · doi:10.1212/01.wnl.0000079050.91337.83 · Cited by 268 · see citing works
Self-citationMoser, H. W., Loes, D. J., Melhem, E. R., Raymond, G. V., Bezman, L., Cox, C. S., & Lu, S.-E. (2000) · Neuropediatrics · doi:10.1055/s-2000-9236 · Cited by 210 · see citing works
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Treatment of cerebral adrenoleukodystrophy: allogeneic transplantation and lentiviral gene therapy
Gupta, A. O., Raymond, G., Pierpont, E. I., Kemp, S., McIvor, R. S., Rayannavar, A., Miller, B., Lund, T. C., & Orchard, P. J. (2022) · Expert Opinion on Biological Therapy · doi:10.1080/14712598.2022.2124857 · Cited by 67 · see citing works
“It correlates with clinical findings, as patients with symptomatic disease are likely to have a Loes score of 10 or higher [2].”
BackgroundMallack, E. J., Gao, K., Engelen, M., & Kemp, S. (2022) · Cells · doi:10.3390/cells11020283 · Cited by 60 · see citing works
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 · see citing works
- Authors
- Moser, A. B., & Fatemi, A.
- Affiliations
- Kennedy Krieger Institute (US)
- Venue
- JAMA Neurology
- Publisher
- American Medical Association (AMA)
- Published
- 2018-10-01
- Volume
- 75
- Issue
- 10
- Pages
- 1175
- ISSN
- 2168-6149 (ISSN-L)
- OpenAlex
- W2810288797
- Cited by
- 22
- References
- 4
- Citations by year
- 2025: 1 · 2024: 1 · 2023: 2 · 2022: 7 · 2021: 2 · 2020: 4 · 2019: 5
- FWCI
- 2.14
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- JAMA Neurology (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
- Keywords
- X-linked adrenoleukodystrophy, newborn screening, new drugs, genetic disorders, adrenal insufficiency, white matter disease, lysosomal storage disease
- MeSH terms
- Adrenoleukodystrophy, Humans, Infant, Newborn, Male, Neonatal Screening
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