Long-term effect of bone-marrow transplantation for childhood-onset cerebral X-linked adrenoleukodystrophy

Shapiro, Elsa; Krivit, William; Lockman, Lawrence A.; Jambaqué, Isabelle; Peters, Charles; Mj, Cowan; Harris, Ruth C.; Blanche, Stéphane; Bordigoni, Pierre; Loes, D. J.; Ziegler, Richard; Crittenden, Mary R.; Ris, Douglas; Berg, B. N.; Cox, Christiane; Moser, Hugo W.; Fischer, Alain; Aubourg, Patrick

doi:10.1016/s0140-6736(00)02629-5

Cited by 304 publications

(219 citation statements)

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“…The Wechsler Performance IQ (PIQ) of o80 predicts poor functional outcome after HSCT. 9,10 Based on Powers' work on oxidative stress and damage in ALD, 11 we have explored the use of an agent with antioxidant and radical scavenger capabilities, N-acetyl-L-cysteine (NAC), in an attempt to arrest progression of demyelination in advanced ALD. NAC stimulates glutathione synthesis and scavenges free radicals, which has been hypothesized to provide neuroprotective capacity.…”

Section: Introductionmentioning

confidence: 99%

N-acetyl-L-cysteine improves outcome of advanced cerebral adrenoleukodystrophy

Tolar

Orchard

Bjoraker

et al. 2007

Bone Marrow Transplant

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Section: Introductionmentioning

confidence: 99%

N-acetyl-L-cysteine improves outcome of advanced cerebral adrenoleukodystrophy

Tolar

Orchard

Bjoraker

et al. 2007

Bone Marrow Transplant

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“…The dramatic improvement effected in the disease phenotype has resulted in two decades of HCT for many other inherited metabolic diseases (IMD). [5][6][7] There have been many surprises along the way. From the impressive results in Hurler syndrome, 8,9 it was expected that all mucopolysaccharide (MPS) disorders could be alleviated by HCT.…”

mentioning

confidence: 99%

“…However, promising results have been obtained in various other disorders. In some, these could be anticipated (eg, metachromatic 7 and globoid-cell leukodystrophies 5 because of their lysosomal enzyme basis) but in others (eg, X-linked adrenoleukodystrophy 6 ), the mechanism underlying the success of timely HCT remains enigmatic even as our understanding of the disease pathogenesis evolves.…”

mentioning

confidence: 99%

“…13 The latter may explain the typical 'incubation period' of 6-12 months post-HCT before CNS deterioration is stabilized. 6 Unfortunately, there is little impact of HCT on bone disease, 14 presumably because of poor enzyme penetration into chondrocytes and the failure to correct or replace osteocytes. (c) Numerous aspects of the transplant affect outcome, for example, donor enzyme level, degree and persistence of donor chimerism, posttransplant complications, especially GVHD, 8,9 and occasionally antibody formation against the novel protein to which the patient does not have tolerance.…”

mentioning

confidence: 99%

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Hematopoietic cell transplantation for inherited metabolic diseases: an overview of outcomes and practice guidelines

Peters

Steward

2003

Bone Marrow Transplant

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Summary:For the past two decades, hematopoietic cell transplantation (HCT) has been used as effective therapy for selected inherited metabolic diseases (IMD) including Hurler (MPS IH) and Maroteaux-Lamy (MPS VI) syndromes, childhood-onset cerebral X-linked adrenoleukodystrophy (X-ALD), globoid-cell leukodystrophy (GLD), metachromatic leukodystrophy (MLD), a-mannosidosis, osteopetrosis, and others. Careful pre-HCT evaluation is critical and coordinated, multidisciplinary follow-up is essential in this field of transplantation. The primary goals of HCT for these disorders have been to promote long-term survival with donor-derived engraftment and to optimize the quality of life. Guidelines for HCT and monitoring are provided; a brief overview of long-term results is also presented.

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“…In the early 1990s, allogeneic hematopoietic stem cell transplantation (HSCT) emerged as an effective therapy for cALD 4, 5. Although HSCT does not restore brain myelination or lost cognitive function, arrest in further demyelination after transplant is usually observed.…”

Section: Introductionmentioning

confidence: 99%

Post‐transplant adaptive function in childhood cerebral adrenoleukodystrophy

Pierpont

McCoy

King

et al. 2018

Ann Clin Transl Neurol

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ObjectiveHematopoietic stem cell transplantation (HSCT) is the only treatment known to slow or halt inflammatory demyelination among boys with the cerebral form of X‐linked adrenoleukodystrophy (cALD), a devastating childhood condition affecting the central nervous system. HSCT can lead to a range of adverse outcomes including fatality. Previous studies have examined the potential predictors of post‐HSCT survival and neurologic functioning. However, little is known about patients' daily‐life adaptive functional outcomes (i.e., ability to communicate, maintain social relationships, and independently execute tasks of daily living). The purpose of this retrospective cohort study was to identify which patient characteristics and treatment‐related variables predict long‐term adaptive function among the survivors of HSCT for cALD.MethodsWe obtained caregiver ratings of adaptive functioning of 65 transplant survivors at an average of 4.6 years (range: 1.0–24.1 years) post‐HSCT. Using linear regression with penalized maximum likelihood estimation, we modeled the relative contribution of pre‐transplant neurocognitive test performance, MRI severity, transplant regimen, and length of time since transplant on patient adaptive functioning outcomes.ResultsHigher radiographic disease severity and poorer performance on baseline neurocognitive tests requiring fine motor skills and visual perception were associated with inferior adaptive functioning after HSCT. Use of radiation during the transplant preparative regimen also predicted poorer adaptive outcomes.InterpretationIn addition to radiological disease severity, baseline neurocognitive test performance is associated with post‐transplant adaptive functional outcomes. Neurocognitive measures may play an important role in prognostic counseling and post‐transplant treatment planning for patients considering HSCT for cALD.

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Long-term effect of bone-marrow transplantation for childhood-onset cerebral X-linked adrenoleukodystrophy

Cited by 304 publications

References 24 publications

N-acetyl-L-cysteine improves outcome of advanced cerebral adrenoleukodystrophy

N-acetyl-L-cysteine improves outcome of advanced cerebral adrenoleukodystrophy

Hematopoietic cell transplantation for inherited metabolic diseases: an overview of outcomes and practice guidelines

Post‐transplant adaptive function in childhood cerebral adrenoleukodystrophy

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