Enzyme Replacement Therapy in Patients Who Have Mucopolysaccharidosis I and Are Younger Than 5 Years: Results of a Multinational Study of Recombinant Human α-<scp>l</scp>-Iduronidase (Laronidase)

Wraith, J. Edmond; Beck, Michael; Lane, R; Ploeg, Ans van der; Shapiro, Elsa; Xue, Yong; Kakkis, Emil; Guffon, Nathalie

doi:10.1542/peds.2006-2156

Cited by 226 publications

(212 citation statements)

References 17 publications

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“…For patients who do not undergo transplantation because of delayed diagnosis, lack of a compatible donor, or major concerns of parents, ERT has been used in an attempt to improve quality of life (Thomas et al 2006;Tokic et al 2007;Wraith et al 2007). Although some clinical benefits have been reported for ERT, continued musculoskeletal and central nervous system deterioration have been observed.…”

Section: Discussionmentioning

confidence: 99%

“…Although some clinical benefits have been reported for ERT, continued musculoskeletal and central nervous system deterioration have been observed. In a study of patients with severe MPS I younger than 5 years of age, follow-up was too short to draw any conclusions on neurocognitive outcome (Wraith et al 2007). Another potential limitation of ERT is the induction of an immune response to the therapeutic enzyme.…”

Section: Discussionmentioning

confidence: 99%

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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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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

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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“…Com efeito, pesquisas têm mostrado o benefício das medicações para algumas das DDL, especialmente se tratadas precocemente ou voltadas para grupos específicos destes pacientes 27,28 . Além disto, critérios clínicos de inclusão e exclusão de pacientes ao tratamento também devem ser definidos e continuamente revistos, visto que as medicações disponíveis não têm apresentado redução favorável dos danos neurológicos já instalados nos casos das formas neuronopáticas de algumas das DDL 29 .…”

Section: Conclusõesunclassified

Bioética da proteção e tratamento de doenças genéticas raras no Brasil: o caso das doenças de depósito lisossomal

Boy

Schramm

2009

Cad. Saúde Pública

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“…Mucopolysaccharidoses (MPSs) are lysosomal storage disorders that are characterized by the dysfunction of the lysosomal enzymes involved in the catabolism of glycosaminoglycans (GAGs) due to a genetic mutation and GAG accumulation in the tissues (1). This accumulation differs depending on the deficiency of the specific enzyme (1).…”

Section: Introductionmentioning

confidence: 99%

“…This accumulation differs depending on the deficiency of the specific enzyme (1). Seven types of MPS have been defined.…”

Section: Introductionmentioning

confidence: 99%

Evaluation of Demographic and Clinical Characteristics of Patients with Mucopolysaccharidosis

Kisa¹,

Köse²,

Ateşoğlu³

et al. 2017

jpr

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The Journal of Pediatric Research, published by Galenos Yayınevi. Aim: Mucopolysaccharidoses (MPSs) are a group of lysosomal storage disorders caused by the deficiency of spesific lysosomal enzymes required to break down glycosaminoglycans. MPSs should be suspected in a child with coarse facial features, organomegaly, and bone disease (dysostosis multiplex), with central nervous system abnormalities. Early diagnosis and treatment can improve outcomes in MPS. The aim of this study was to evaluate the demographic characteristics and clinical findings of our MPS patients. Materials and Methods: This is a retrospective study which included 27 MPS patients who were diagnosed and treated in our center. ABS TRACT ÖZ Results:The mean age of the group was 112.3±52.5 months (36-196 months); the mean onset age of symptoms was 40.8±30.6 months (4-112 months), and the mean time from symptom onset to diagnosis was 16.3±21.4 months (0-80 months). MPS subgroups were Type III in 13 (48%) patients, Type II in seven (26%), Type VI in four (15%), Type I in two (7%) patients and Type IV in one patient. Nine (33.3%) patients received enzyme replacement therapy (ERT). The mean duration of ERT was 31.3±21.5 months (9-67 months). Conclusion: MPS Type III was found to be the most common subgroup in our center. We can speculate that the mean time from symptom onset to diagnosis was found too long for MPS in which early diagnosis improves the prognosis. Increasing awareness of the disease in physicians encountering these patients in different clinics will be an important factor in the early diagnosis of the disease.

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Enzyme Replacement Therapy in Patients Who Have Mucopolysaccharidosis I and Are Younger Than 5 Years: Results of a Multinational Study of Recombinant Human α-l-Iduronidase (Laronidase)

Cited by 226 publications

References 17 publications

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

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

Bioética da proteção e tratamento de doenças genéticas raras no Brasil: o caso das doenças de depósito lisossomal

Evaluation of Demographic and Clinical Characteristics of Patients with Mucopolysaccharidosis

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