High dose immunoglobulin IV treatment in adrenoleukodystrophy.
Open accessAbstract
X-linked adrenoleukodystrophy (ALD) is an inborn error of peroxisomal metabolism characterised by progressive demyelination of the central nervous system and by hypoadrenalism. The biochemical defect of ALD results in an impairment in degradation of very long chain fatty acids (VLCFA) with their accumulation in plasma and tissues. Many therapeutic approaches have been tried. Recently, a restricted diet and glycerol trioleate/erucic (GTOE) supplementation have shown normalisation of VLCFA plasma levels, although they are not effective in altering the clinical course of X-linked ALD. The preliminary results are presented of a twelve month trial of immunomodulation by intravenous high-dose immunoglobulins in six patients, mean (SD) age 10.48 (2.8) affected by X-linked ALD, on VLCFA restricted diet plus GTOE supplementation therapy. Six patients aged 9.30 (1.5) with similar clinical characteristics and on the same restricted VLCFA regime of GTO/GTE therapy were studied as the control group. After two months VLCFA levels fell to normal values and remained so for all patients throughout the study. These data show that immunoglobulins are not able to arrest the progression of the disease. The MRI and clinical symptoms deteriorated to the same extent in both groups.
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Various forms of immunosuppressive therapy have been tested for X-ALD, so far without success.
“Various forms of immunosuppressive therapy have been tested, so far without success [Stumpf et al., 1981;Naidu et al., 1988;Cappa et al., 1994;Korenke et al., 1997;Moser et al., 2001].”
From ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: Role in diagnosis and clinical correlations (2001) · cites this paper as Cappa et al., 1994
The Abstract and Discussion report that intravenous immunoglobulin immunomodulation did not arrest X-ALD progression or produce clinical improvement. This supports the unsuccessful-treatment point, but the paper describes its treatment as immunomodulation, not immunosuppression, and tests only one such treatment. (LLM, conf=0.83)
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Cites
A Two-Year Trial of Oleic and Erucic Acids (“Lorenzo's Oil”) as Treatment for Adrenomyeloneuropathy
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Kemp, S., Pujol, A., Waterham, H. R., van Geel, B. M., Boehm, C. D., Raymond, G. V., Cutting, G. R., Wanders, R. J. A., & Moser, H. W. (2001) · Human Mutation · doi:10.1002/humu.1227 · Cited by 332 · see citing works
Köhler, W., Engelen, M., Eichler, F., Lachmann, R., Fatemi, A., Sampson, J., Salsano, E., Gamez, J., Molnar, M. J., Pascual, S., et al. (2023) · The Lancet Neurology · doi:10.1016/s1474-4422(22)00495-1 · Cited by 48 · see citing works
- Authors
- Cappa, M., Bertini, E., del Balzo, P., Cambiaso, P., Di Biase, A., & Salvati, S.
- Affiliations
- Bambino Gesù Children's Hospital (IT)
- ORCID
- Venue
- Journal of Neurology, Neurosurgery & Psychiatry
- Publisher
- BMJ
- Published
- 1994-11-01
- Volume
- 57
- Issue
- Suppl
- Pages
- 69-71
- ISSN
- 0022-3050 (ISSN-L)
- PMC
- PMC1016731
- OpenAlex
- W2143402754
- Cited by
- 44
- References
- 1
- Citations by year
- 2025: 3 · 2023: 1 · 2022: 1 · 2021: 2 · 2019: 1 · 2018: 2 · 2016: 2 · 2013: 1 · 2012: 1
- FWCI
- 1.25
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Journal of Neurology Neurosurgery & Psychiatry (publishedVersion)
- PubMed Central (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
- Life Sciences › Neuroscience › Neurology › Neurological diseases and metabolism
- Keywords
- X-linked adrenoleukodystrophy, high-dose intravenous immunoglobulin, very long chain fatty acids, peroxisomal disorders, demyelination, immunomodulation, disease progression, MRI outcomes
- MeSH terms
- Adolescent, Adrenoleukodystrophy, Child, Humans, Male, Immunoglobulins, Intravenous
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