Ten years of enzyme replacement therapy in paediatric onset mucopolysaccharidosis II in England
Copyright © 2019 Elsevier Inc. All rights reserved..
The outcome of 110 patients with paediatric onset mucopolysaccharidosis II (MPS II) since the commercial introduction of enzyme replacement therapy (ERT) in England in 2007 is reported. Median length of follow up was 10 years 3 months (range = 1 y 2 m to 18 years 6 month). 78 patients were treated with ERT, 18 had no ERT or disease modifying treatment 7 had haematopoietic stem cell transplant, 4 experimental intrathecal therapy and 3 were lost to follow up. There is clear evidence of improved survival (median age of death of ERT treated (n = 16) = 15.13 years (range = 9.53 to 20.58 y), and untreated (n = 17) = 11.43 y (0.5 to 19.13 y) p = .0005). Early introduction of ERT improved respiratory outcome at 16 years, the median FVC (% predicted) of those in whom ERT initiated <8 years = 69% (range = 34-86%) and 48% (25-108) (p = .045) in those started >8 years. However, ERT appears to have minimal impact on hearing, carpal tunnel syndrome or progression of cardiac valvular disease. Cardiac valvular disease occurred in 18/46 (40%), with progression occurring most frequently in the aortic valve 13/46 (28%). The lack of requirement for neurosurgical intervention in the first 8 years of life suggests that targeted imaging based on clinical symptomology would be safe in this age group after baseline assessments. There is also emerging evidence that the neurological phenotype is more nuanced than the previously recognized dichotomy of severe and attenuated phenotypes in patients presenting in early childhood.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2020 |
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| Erschienen: |
2020 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:129 |
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| Enthalten in: |
Molecular genetics and metabolism - 129(2020), 2 vom: 15. Feb., Seite 98-105 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Broomfield, A [VerfasserIn] |
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| Links: |
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| Themen: |
Enzyme replacement therapy (ERT) |
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| Anmerkungen: |
Date Completed 12.11.2020 Date Revised 12.11.2020 published: Print-Electronic Citation Status MEDLINE |
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| doi: |
10.1016/j.ymgme.2019.07.016 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM299944735 |
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| 520 | |a Copyright © 2019 Elsevier Inc. All rights reserved. | ||
| 520 | |a The outcome of 110 patients with paediatric onset mucopolysaccharidosis II (MPS II) since the commercial introduction of enzyme replacement therapy (ERT) in England in 2007 is reported. Median length of follow up was 10 years 3 months (range = 1 y 2 m to 18 years 6 month). 78 patients were treated with ERT, 18 had no ERT or disease modifying treatment 7 had haematopoietic stem cell transplant, 4 experimental intrathecal therapy and 3 were lost to follow up. There is clear evidence of improved survival (median age of death of ERT treated (n = 16) = 15.13 years (range = 9.53 to 20.58 y), and untreated (n = 17) = 11.43 y (0.5 to 19.13 y) p = .0005). Early introduction of ERT improved respiratory outcome at 16 years, the median FVC (% predicted) of those in whom ERT initiated <8 years = 69% (range = 34-86%) and 48% (25-108) (p = .045) in those started >8 years. However, ERT appears to have minimal impact on hearing, carpal tunnel syndrome or progression of cardiac valvular disease. Cardiac valvular disease occurred in 18/46 (40%), with progression occurring most frequently in the aortic valve 13/46 (28%). The lack of requirement for neurosurgical intervention in the first 8 years of life suggests that targeted imaging based on clinical symptomology would be safe in this age group after baseline assessments. There is also emerging evidence that the neurological phenotype is more nuanced than the previously recognized dichotomy of severe and attenuated phenotypes in patients presenting in early childhood | ||
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Enzyme replacement therapy (ERT) | |
| 650 | 4 | |a Hunter syndrome | |
| 650 | 4 | |a Idursulfase | |
| 650 | 4 | |a Mucopolysaccharidosis II | |
| 650 | 4 | |a Paediatric | |
| 700 | 1 | |a Davison, J |e verfasserin |4 aut | |
| 700 | 1 | |a Roberts, J |e verfasserin |4 aut | |
| 700 | 1 | |a Stewart, C |e verfasserin |4 aut | |
| 700 | 1 | |a Hensman, P |e verfasserin |4 aut | |
| 700 | 1 | |a Beesley, C |e verfasserin |4 aut | |
| 700 | 1 | |a Tylee, K |e verfasserin |4 aut | |
| 700 | 1 | |a Rust, S |e verfasserin |4 aut | |
| 700 | 1 | |a Schwahn, B |e verfasserin |4 aut | |
| 700 | 1 | |a Jameson, E |e verfasserin |4 aut | |
| 700 | 1 | |a Vijay, S |e verfasserin |4 aut | |
| 700 | 1 | |a Santra, S |e verfasserin |4 aut | |
| 700 | 1 | |a Sreekantam, S |e verfasserin |4 aut | |
| 700 | 1 | |a Ramaswami, U |e verfasserin |4 aut | |
| 700 | 1 | |a Chakrapani, A |e verfasserin |4 aut | |
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| 700 | 1 | |a Cleary, M A |e verfasserin |4 aut | |
| 700 | 1 | |a Jones, S A |e verfasserin |4 aut | |
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