Combination of enzyme replacement and hematopoietic stem cell transplantation as therapy for Hurler syndrome

Tolar, Jakub; Grewal, Satkiran S.; Bjoraker, Kendra; Whitley, Chester B.; Shapiro, Elsa; Charnas, Lawrence; Orchard, Paul J.

doi:10.1038/sj.bmt.1705934

Cited by 122 publications

(108 citation statements)

References 32 publications

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“…If left untreated, worsening neurological, cardiovascular, and respiratory problems result in death in early childhood. The standard of care for MPS-IH is treatment with hematopoietic cell transplantation (HCT) (Muenzer et al 2009;Tolar et al 2007). …”

Section: Introductionmentioning

confidence: 99%

Long-Term Cognitive and Functional Outcomes in Children with Mucopolysaccharidosis (MPS)-IH (Hurler Syndrome) Treated with Hematopoietic Cell Transplantation

et al. 2015

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The long-term cognitive and functional outcomes of children with mucopolysaccharidosis type I (MPS-IH) post-hematopoietic cell transplant (HCT) are not well documented, and the role of genetic and treatment factors in these outcomes has yet to be defined. In this multi-site, international study, we (1) characterize the cognitive and functional status of 47 individuals (ages 2-25, mean of 10.6 years) with MPS-IH who are 1-24 years post HCT (mean ¼ 9 years) and (2) examine contributions of genotype, transplant characteristics, and sociodemographic factors to cognitive ability, adaptive behavior, and quality of life. The overall cognitive ability of our sample was mildly impaired, more than two standard deviations below general population norms. Parent reported adaptive behaviors (i.e., communication, daily living, and motor skills) were similarly impaired with a relative strength in socialization. Quality of life, as reported by parents, fell more than two standard deviations below population norms for physical functioning; however, psychosocial quality of life (emotional well-being) approximated population norms. In linear regression analysis, adjusted for demographic and treatment factors, mutation severity was associated with lower cognitive ability (p ¼ 0.005) and adaptive functioning (p ¼ 0.004), but not parent ratings of children's quality of life. Older age at HCT was associated with poorer physical quality of life (p ¼ 0.002); lower socioeconomic status (p ¼ 0.028) and unrelated bone marrow HCT (p ¼ 0.010) were associated with poorer psychosocial quality of life. Implications for screening and early intervention for children at risk for poorer cognitive and functional outcomes are described.

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Section: Introductionmentioning

confidence: 99%

Long-Term Cognitive and Functional Outcomes in Children with Mucopolysaccharidosis (MPS)-IH (Hurler Syndrome) Treated with Hematopoietic Cell Transplantation

et al. 2015

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“…Supplementary ERT before HSCT rapidly reduces upper airway obstruction, and improves cardiorespiratory capacity thereby improving patient fitness for HSCT (Grewal et al 2005;Cox-Brinkman et al 2006;Muenzner et al 2009;Wynn et al 2009;Tolar et al 2008;Bijarnia et al 2009;Clarke et al 2009). We have demonstrated that a treatment regimen of ERT combined with HSCT in our patient with MPS VI provided similar benefit.…”

Section: Discussionmentioning

confidence: 99%

Combined Enzyme Replacement Therapy and Hematopoietic Stem Cell Transplantation in Mucopolysacharidosis Type VI

et al. 2011

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Mucopolysaccharidosis type VI, MaroteauxLamy syndrome is a lysosomal storage disorder with progressive, multisystem involvement caused by deficiency of the lysosomal enzyme N-acetylgalactosamine-4-sulfatase leading to accumulation of the glycosaminoglycan, keratan sulfate. Enzyme replacement therapy (ERT) has been shown to clinically benefit affected individuals. A combined treatment regime of ERT and hemopoietic stem cell transplantation (HSCT) has led to reduced morbidity and mortality in patients with MPS I. We have demonstrated that a treatment regime of ERT combined with HSCT in a 3-year-old girl with MPS VI provided similar benefit. This treatment regimen should be considered in the management of selected patients with MPS VI. Neither HSCT nor ERT can correct or completely prevent progression of the musculoskeletal complications. Long-term follow-up and regular assessments for these complications is necessary.

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“…Не менее важным является выбор адекватного ре-жима кондиционирования [9]. В последние годы, не-смотря на успехи применения режимов со сниженной токсичностью, прочное место занимают режимы пол-ной интенсивности.…”

Section: актуальностьunclassified

“…Сегодня уда-лось добиться увеличения общей выживаемости с 50 [6,9] до 80 % и даже выше. Частота тяжелой острой РТПХ также снижается.…”

Section: рис 2 пациенты (сиблинги) с сг после трансплантации от сндunclassified

Hematopoietic stem cell transplantation in patients with Hurler syndrome – myeloablative conditioning efficiency

Киргизов¹,

Пристанскова²,

Сидорова³

et al. 2015

Ross. ž. det. gematol. onkol.

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Combination of enzyme replacement and hematopoietic stem cell transplantation as therapy for Hurler syndrome

Cited by 122 publications

References 32 publications

Long-Term Cognitive and Functional Outcomes in Children with Mucopolysaccharidosis (MPS)-IH (Hurler Syndrome) Treated with Hematopoietic Cell Transplantation

Long-Term Cognitive and Functional Outcomes in Children with Mucopolysaccharidosis (MPS)-IH (Hurler Syndrome) Treated with Hematopoietic Cell Transplantation

Combined Enzyme Replacement Therapy and Hematopoietic Stem Cell Transplantation in Mucopolysacharidosis Type VI

Hematopoietic stem cell transplantation in patients with Hurler syndrome – myeloablative conditioning efficiency

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