Mucopolysaccharidosis type I, II and VI and response to enzyme replacement therapy: Results from a single-center case series study

Title

Mucopolysaccharidosis type I, II and VI and response to enzyme replacement therapy: Results from a single-center case series study

Creator

Franco Jfds; El Dib R; Agarwal A; Soares D; Milhan NVM; Albano LMJ; Kim CA

Identifier

10.5582/irdr.2017.01036

Publisher

Intractable Rare Dis Res

Date

2017

Subject

Glycosaminoglycans; Lysosomal Storage Disorders; Prognosis; Treatment

Description

Mucopolysaccharidoses (MPS) types I, II and VI are associated with deficiencies in alpha-L-iduronidase, iduronate-2-sulfatase and N-acetylgalactosamine-4-sulfatase, respectively, and generally involve progressive and multi-systemic clinical manifestations. Enzyme replacement therapy (ERT) appears to be reasonably well tolerated. The aim of this study was to examine clinical and diagnostic findings of a series of pediatric and adult MPS patients, and assess the safety and efficacy of ERT in children and adults with MPS type I, II and VI. Pediatric and adult patients were treated weekly with 1 mg/kg recombinant human N-acetylgalactosamine-4-sulphatase (rhASB), 0.45 mg/kg alpha-L-iduronidase, or 0.5 mg/kg iduronate-2-sulfatase. Clinical and biochemical parameters with ERT were evaluated for a mean duration of 5 years. Mantel-Haenszel risk ratios and associated 95% confidence intervals (CIs) were calculated for rates of death among different types of enzyme replacement therapies (ERTs). Twenty-seven patients (mean ages pediatric: 6.8 years; adult: 29 years) were included. ERT was found to be consistently well tolerated and effective in attenuating symptoms, but did not prevent the progression of the disease or reduce mortality rates. Our findings demonstrated that early diagnosis and initiation of ERT are critical for improvements in patient-important outcomes and quality of life, although disease progression and mortality rates remain high.

Rights

Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).

Citation List Month

November 2017 List

Notes

Franco, Jose Francisco da Silva
El Dib, Regina
Agarwal, Arnav
Soares, Diogo
Milhan, Noala Vicensoto Moreira
Albano, Lilian Maria Jose
Kim, Chong Ae
Journal Article
Japan
Intractable Rare Dis Res. 2017 Aug;6(3):183-190. doi: 10.5582/irdr.2017.01036.

Citation

Franco Jfds; El Dib R; Agarwal A; Soares D; Milhan NVM; Albano LMJ; Kim CA, “Mucopolysaccharidosis type I, II and VI and response to enzyme replacement therapy: Results from a single-center case series study,” Pediatric Palliative Care Library, accessed September 25, 2021, https://pedpalascnetlibrary.omeka.net/items/show/11003.

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