Stem Cell Transplantation for Adult-Onset Krabbe Disease: Report of a Case

Sharp, Madeleine; Laule, Cornelia; Nantel, Stephen H.; Mädler, Burkhard; Aul, Ritu; Yip, Samuel; Sirrs, Sandra

doi:10.1007/8904_2012_203

Cited by 23 publications

(20 citation statements)

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“…p.M101V and p.M101L have been reported in later-onset patients. 6,31 Each of the four infants who carried at least one copy of p.V320M were found to be not at risk. This variant is no longer considered to be pathogenic and probably represents a neutral variant or an activity-modifying polymorphism or is only associated with reduced activity because it is allelic with p.I546T (three infants) or p.I546T+p.R380W (one infant).…”

Section: Genotypes and Phenotypesmentioning

confidence: 99%

Newborn screening for Krabbe disease in New York State: the first eight years’ experience

Orsini

Kay

Saavedra-Matiz

et al. 2016

Genetics in Medicine

125

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Section: Genotypes and Phenotypesmentioning

confidence: 99%

Newborn screening for Krabbe disease in New York State: the first eight years’ experience

Orsini

Kay

Saavedra-Matiz

et al. 2016

Genetics in Medicine

125

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“…As AMN is the most frequent phenotype of XALD in adults and spinal cord involvement can precede cerebral demyelination by 10 years or more (de Beer et al 2014), this characteristic presentation of the disease in adults might reduce the number who are candidates for transplantation if advanced spinal cord disease is present at the time HSCThematopoietic stem cell transplantation; XALD -X-linked adrenoleukodystrophy; HLAhuman leukocyte antigen; ALLacute lymphoblastic leukemia; AMLacute myeloid leukemia GVHD graft versus host disease cerebral demyelination begins. Systematic data on outcomes in transplanted adults on IMDs other than XALD are lacking other than isolated case reports suggesting HSCT has beneficial effects on disease progression in conditions such as metachromatic leukodystrophy (OMIM 250100; Krivit et al 1995) and Krabbe disease (OMIM 245200; Sharp et al 2012). Some transplant-related complications, such as diffuse alveolar hemorrhage (Kharbanda et al 2006) and autoimmune hemolytic anemia (O'Brien et al 2004), occur at increased frequency in children with IMDs undergoing HSCT but no data exist on the relative frequency of these complications in adults with IMDs.…”

Section: Outcomes and Complications Of Hsct In Adults Versus Childrenmentioning

confidence: 99%

Transplantation as disease modifying therapy in adults with inherited metabolic disorders

Sirrs

Hannah‐Shmouni

Nantel

et al. 2018

J of Inher Metab Disea

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Transplantation is an established disease modifying therapy in selected children with certain inherited metabolic diseases (IMDs). Transplantation of hematopoietic stem cells or solid organs can be used to partially correct the underlying metabolic defect, address life threatening disease manifestations (such as neutropenia) or correct organ failure caused by the disease process. Much less information is available on the use of transplantation in adults with IMDs. Transplantation is indicated for the same IMDs in adults as in children. Despite similar disease specific indications, the actual spectrum of diseases for which transplantation is used differs between these age groups and this is partly related to the natural history of disease. There are diseases (such as urea cycle defects and X-linked adrenoleukodystrophy) for which transplantation is recommended for selected symptomatic patients as a treatment strategy in both adults and children. In those diseases, the frequency with which transplantation is used in adults is lower than in children and this may be related in part to a reduced awareness of transplantation as a treatment strategy amongst adult clinicians as well as limited donor availability and allocation policies which may disadvantage adult patients with IMDs. Risks of transplantation and disease-specific prognostic factors influencing outcomes also differ with age. We review the use of transplantation as a disease modifying strategy in adults focusing on how this differs from use in children to highlight areas for future research.

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“…Numerous studies in humans and animal models have shown varying degrees of benefit with HSCT. Benefits are reported in patients with infantile-and juvenile- [27][28][29] and adult-onset [30] disease, when treated prior to the development of neurological symptoms.…”

Section: Gene Technology In Therapymentioning

confidence: 99%

Genetic Test and Gene Therapy for Krabbe Disease: An Update

Graziano

Cardile²

2014

Gene Technology

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Globoid cell leukodystrophy, also known as Krabbe disease, is an inherited metabolic neurodegenerative disease, due to genetic mutation of β-galactocerebrosidase gene. Here we reviewed how the technological advances in gene analysis have enhanced the enrichment of mutation database. Moreover, we focus on the possibility to develop genetic treatments, hoping that the updating of genetic, clinical and biochemical data will improve for an early and efficient diagnosis, until a definitive treatment option will be identified.

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Stem Cell Transplantation for Adult-Onset Krabbe Disease: Report of a Case

Abstract: Krabbe disease is an autosomal recessive demyelinating lysosomal storage disorder caused by a deficiency of galactocerebrosidase.

Cited by 23 publications

References 10 publications

Newborn screening for Krabbe disease in New York State: the first eight years’ experience

Newborn screening for Krabbe disease in New York State: the first eight years’ experience

Transplantation as disease modifying therapy in adults with inherited metabolic disorders

Genetic Test and Gene Therapy for Krabbe Disease: An Update

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