Transplantation of Umbilical-Cord Blood in Babies with Infantile Krabbe's Disease

Escolar, Maria L.; Poe, Michele D.; Provenzale, James M.; Richards, Karen C.; Allison, June; Wood, Susan; Wenger, David A.; Pietryga, Daniel; Wall, Donna A.; Champagne, Martin A.; Morse, Richard P.; Krivit, William; Kurtzberg, Joanne

doi:10.1056/nejmoa042604

Cited by 634 publications

(566 citation statements)

References 18 publications

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“…This is of clinical importance because the disorders of Gaucher, Fabry, MPS I and Pompe currently have available, for clinical use or trials, enzyme replacement therapy that either has been demonstrated to improve (Gaucher, Fabry;Scott et al 2003;Shah and Elliott 2005) or is expected to improve (MPS I, Pompe;Desnick 2004;Miebach 2005) the clinical status of affected individuals. In the case of Krabbe and Niemann-Pick disease, there is evidence that presymptomatic detection and intervention by the use of umbilical stem cell transplantation markedly improves the clinical course of the disease (Escolar et al 2005;Krivit 2004). …”

Section: Assays For Enzyme Deficiencies: Lysosomal Storage Disordersmentioning

confidence: 99%

“…In response to the success of early bone marrow transplantation for the treatment of Krabbe disease (Escolar et al 2005), the Hunter's Hope Foundation met with State Representatives in Albany, New York (http://www.huntershope.org/news/pressreleases/hhalbanypr.asp). As a result, the New York State screening laboratory at the Wadsworth Center is establishing our Krabbe disease assay (Li et al 2004a) and intend to use it as part of their newborn screening assay panel (under the direction of Dr. Kenneth Pass; (http://www.wadsworth.org/educate/passkrabbe.htm).…”

Section: Developments Towards Tandem Ms Newborn Screening For Lysosommentioning

confidence: 99%

See 1 more Smart Citation

Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for the newborn screening of lysosomal storage disorders

Gelb

Tureček

Scott

et al. 2006

J of Inher Metab Disea

183

140

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SummaryTandem mass spectrometry is currently used in newborn screening programmes to quantify the level of amino acids and acylcarnitines in dried blood spots for detection of metabolites associated with treatable diseases. We have developed assays for lysosomal enzymes in re-hydrated dried blood spots in which a set of substrates is added and the set of corresponding enzymatic products are quantified using tandem mass spectrometry with the aid of mass-differentiated internal standards. We have developed a multiplex assay of the set of enzymes that, when deficient, cause the lysosomal storage disorders Fabry, Gaucher, Hurler, Krabbe, Niemann-Pick A/B and Pompe diseases. These diseases were selected because treatments are now available or expected to emerge shortly. The discovery that acarbose is a selective inhibitor of maltase glucoamylase allows the Pompe disease enzyme, acid α-glucosidase, to be selectively assayed in white blood cells and dried blood spots. When tested with dried blood spots from 40 unaffected individuals and 10-12 individuals with the lysosomal storage disorder, the tandem mass spectrometry assay led to the correct identification of the affected individuals with 100% sensitivity. Many of the reagents needed for the new assays are commercially available, and those that are not are being prepared under Good Manufacturing Procedures for approval by the FDA. Our newborn screening assay for Krabbe disease is currently being put in place at the Wadsworth Center in New York State for the analysis of ~1000 dried blood spots per day.Summary We have developed tandem mass spectrometry for the direct assay of lysosomal enzymes in rehydrated dried blood spots that can be implemented for newborn screening of lysosomal storage disorders. Several enzymes can be analysed by a single method (multiplex analysis) and in a highthroughput manner appropriate for newborn screening laboratories.

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Section: Assays For Enzyme Deficiencies: Lysosomal Storage Disordersmentioning

confidence: 99%

Section: Developments Towards Tandem Ms Newborn Screening For Lysosommentioning

confidence: 99%

Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for the newborn screening of lysosomal storage disorders

Gelb

Tureček

Scott

et al. 2006

J of Inher Metab Disea

183

140

View full text Add to dashboard Cite

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“…Indeed, bone marrow transplantation (BMT) was able to reduce psychosine levels, partially alleviate symptoms, and increase myelination and survival in mice [81]. Transplantation of healthy umbilical-cord blood into affected human babies has since been shown to be a successful treatment [82].…”

Section: Models Of Human Diseasementioning

confidence: 99%

Mouse Forward Genetics in the Study of the Peripheral Nervous System and Human Peripheral Neuropathy

Douglas

Popko

2008

Neurochem Res

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Forward genetics, the phenotype-driven approach to investigating gene identity and function, has a long history in mouse genetics. Random mutations in the mouse transcend bias about gene function and provide avenues towards unique discoveries. The study of the peripheral nervous system is no exception; from historical strains such as the trembler mouse, which led to the identification of PMP22 as a human disease gene causing multiple forms of peripheral neuropathy, to the more recent identification of the claw paw and sprawling mutations, forward genetics has long been a tool for probing the physiology, pathogenesis, and genetics of the PNS. Even as spontaneous and mutagenized mice continue to enable the identification of novel genes, provide allelic series for detailed functional studies, and generate models useful for clinical research, new methods, such as the piggyBac transposon, are being developed to further harness the power of forward genetics.

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“…There is evidence of improved neurocognitive outcomes after umbilical cord blood transplantation (UCBT) in children with Hurler syndrome, adrenoleukodystrophy, and Krabbe disease, particularly when performed early in the disease course (Staba et al 2004;Escolar et al 2005;Beam et al 2007;Prasad et al 2008). Various studies of UCBT in Hurler syndrome patients report high rates of sustained engraftment with full donor chimerism and normal IDUA activity (Staba et al 2004;Martin et al 2006;Prasad et al 2008).…”

Section: Introductionmentioning

confidence: 99%

“…Various studies of UCBT in Hurler syndrome patients report high rates of sustained engraftment with full donor chimerism and normal IDUA activity (Staba et al 2004;Martin et al 2006;Prasad et al 2008). Furthermore, umbilical cord blood is readily available, reducing the time between diagnosis and transplantation, which is important for optimal prognosis (Staba et al 2004;Escolar et al 2005).…”

Section: Introductionmentioning

confidence: 99%

Long-Term Functional Outcomes of Children with Hurler Syndrome Treated with Unrelated Umbilical Cord Blood Transplantation

et al. 2014

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Objectives: Hurler syndrome is characterized by progressive multisystem deterioration leading to early death in childhood. This prospective study evaluated the longterm outcomes of patients with Hurler syndrome who underwent umbilical cord blood transplantation from unrelated donors.Study design: Only patients with Hurler syndrome who underwent umbilical cord blood transplantation between December 1995 and March 2006 (n ¼ 25) and who were followed for at least 5 years (n ¼ 19) were included in the analysis. The patients were longitudinally evaluated by a multidisciplinary team of specialists following a standardized protocol.Results: Median age at transplantation was 15.9 months (range 2.1-35), and patients were followed up until a median age of 10

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Transplantation of Umbilical-Cord Blood in Babies with Infantile Krabbe's Disease

Abstract: Transplantation of umbilical-cord blood from unrelated donors in newborns with infantile Krabbe's disease favorably altered the natural history of the disease. Transplantation in babies after symptoms had developed did not result in substantive neurologic improvement.

Cited by 634 publications

References 18 publications

Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for the newborn screening of lysosomal storage disorders

Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for the newborn screening of lysosomal storage disorders

Mouse Forward Genetics in the Study of the Peripheral Nervous System and Human Peripheral Neuropathy

Long-Term Functional Outcomes of Children with Hurler Syndrome Treated with Unrelated Umbilical Cord Blood Transplantation

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