Outcome in six children with mucopolysaccharidosis type IH, hurler syndrome, after haematopoietic stem cell transplantation (HSCT)

Malm, Gunilla; Gustafsson, Britt; Berglund, Gunilla; Lindström, Maria; Naess, K; Borgström, Birgit; Döbeln, Ulrika von; Ringdén, Olle

doi:10.1111/j.1651-2227.2008.00811.x

Cited by 44 publications

(32 citation statements)

References 20 publications

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“…These studies suggest that, when performed early enough in the disease process, HCT improved or stabilized neurocognitive development and adaptive skills in most children, particularly in combination with enzyme replacement therapy, preventing progressive deterioration (Malm et al 2008;Bjoraker et al 2006;Eisengart et al 2013). Nonetheless, the neurocognitive and adaptive outcomes after HCT for Hurler syndrome are highly variable (Aldenhoven et al 2008).…”

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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“…For example, a patient with Hurlers syndrome, with normal neurological development and disease markers, but hearing impairment, dysostosis multiplex and in need of correctional orthopedic surgery would be defined as being in remission. 9,10 Patients were defined as being in PR if some positive effects of AHSCT was seen-for example, a patient with Thalassemia major with some improvements, but still transfusion dependant-or as having disease progression in which no positive effect of AHSCT has been noted.…”

Section: Outcome Definitionsmentioning

confidence: 99%

“…Five of these patients had graft rejection (Table 3). DLI was administered at a median time of 3 months (range [1][2][3][4][5][6][7][8][9][10][11][12][13], and the median number of infusions was one (range 1-5). Median cell dose was 1 Â 10 6 (range 1 Â 10 5 -1 Â 10 8 ) T cells/kg recipient.…”

Section: Management Of Patients With High MCmentioning

confidence: 99%

Allogeneic hematopoietic SCT in patients with non-malignant diseases, and importance of chimerism

Svenberg

Mattsson

Ringdén

et al. 2009

Bone Marrow Transplant

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In this retrospective study, we evaluated the chimerism status and outcome in 58 patients (64 transplants) with non-malignant diseases. Reduced intensity conditioning (RIC) was given in half of the transplants. Mixed chimerism (MC) was defined as 41% recipient cells. Two consecutive samples showing 430% recipient cells were defined as high chimerism (high MC). Patients with high MC and the management of these patients were analyzed in greater detail. The overall survival rate was 87%. In total, 23 transplants were donor chimerism (DC) and 41 transplants showed some degree of MC. The incidence of MC was 78 and 50% after RIC and myeloablative conditioning, respectively (P ¼ 0.04). Acute GVHD of grades II-III was more common in patients with DC (39%) than in patients with MC (8%) (P ¼ 0.002). Owing to high MC, donor lymphocyte infusions were given in 17 cases. The level of MC was reduced in seven cases, unchanged in four cases, increased in one case and there was graft rejection in five cases. A second transplant was carried out in six cases with rejections, five are alive and in remission. We conclude that patients with non-malignant diseases, who develop MC after transplant have less acute GVHD. Despite the high incidence of MC, overall survival is promising.

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“…Valvular thickening, on the other hand, appears irreversible and may even progress (Braunlin et al 2003;Malm et al 2008), reflecting the relative avascularity of these structures. While some authors suggest that the status of coronary ostia may be improved following successful transplantation (Braunlin et al 2001), others have not supported this observation (Yano et al 2009).…”

Section: Discussionmentioning

confidence: 99%

Fatal and Unanticipated Cardiorespiratory Disease in a Two-Year-Old Child with Hurler Syndrome Following Successful Stem Cell Transplant

et al. 2013

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A 2-year-old female with Hurler syndrome (mucopolysaccharidosis type 1) died suddenly within 3 months of successful unrelated fully matched cord blood transplant, having received weekly enzyme replacement therapy (ERT) prior to transplant. Though an infectious aetiology was clinically suspected to be the cause of her unanticipated acute deterioration and untimely demise, autopsy findings suggested that a combination of pre-existing but sub-clinical Hurler related cardiopulmonary pathology and superimposed transplant related pulmonary venopathy as the basis of her death. This case highlights the limitations of ERT in ameliorating cardiorespiratory disease and the failure of standard pretransplant investigations to detect significant abnormality related to her underlying condition. It also reinforces the importance of autopsy in explaining unanticipated events.

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Outcome in six children with mucopolysaccharidosis type IH, hurler syndrome, after haematopoietic stem cell transplantation (HSCT)

Cited by 44 publications

References 20 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

Allogeneic hematopoietic SCT in patients with non-malignant diseases, and importance of chimerism

Fatal and Unanticipated Cardiorespiratory Disease in a Two-Year-Old Child with Hurler Syndrome Following Successful Stem Cell Transplant

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