Ten years of enzyme replacement therapy in paediatric onset mucopolysaccharidosis II in England

Autor: A. Broomfield, Clare E. Beesley, Karen Tylee, C. Stewart, Jane Roberts, S. Santra, Maureen Cleary, Anupam Chakrapani, Uma Ramaswami, Elisabeth Jameson, Simon Jones, S. Vijay, Julian Raiman, B. Schwahn, James Davison, Stephan Rust, S. Sreekantam, Pauline Hensman
Rok vydání: 2020
Předmět:
0301 basic medicine
Aortic valve
congenital
hereditary
and neonatal diseases and abnormalities
Pediatrics
medicine.medical_specialty
Time Factors
Adolescent
Idursulfase
Endocrinology
Diabetes and Metabolism
Disease
030105 genetics & heredity
Biochemistry
03 medical and health sciences
FEV1/FVC ratio
0302 clinical medicine
Endocrinology
Genetics
medicine
Humans
Enzyme Replacement Therapy
Lost to follow-up
Child
Carpal tunnel syndrome
Molecular Biology
Mucopolysaccharidosis II
Retrospective Studies
business.industry
Data Collection
Infant
nutritional and metabolic diseases
Hunter syndrome
Enzyme replacement therapy
medicine.disease
Phenotype
Treatment Outcome
medicine.anatomical_structure
England
Child
Preschool
Disease Progression
business
030217 neurology & neurosurgery
Follow-Up Studies
medicine.drug
Zdroj: Molecular Genetics and Metabolism. 129:98-105
ISSN: 1096-7192
Popis: 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 initiated8 years = 69% (range = 34-86%) and 48% (25-108) (p = .045) in those started8 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.
Databáze: OpenAIRE
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