Patient's weight can decide about spending millions on enzyme replacement therapy in MPS II
PBN-AR
Instytucja
Instytut Matki i Dziecka
Informacje podstawowe
Główny język publikacji
en
Czasopismo
Molecular Genetics and Metabolism Reports
ISSN
2214-4269
EISSN
Wydawca
Elsevier B.V.
DOI
Rok publikacji
2016
Numer zeszytu
brak
Strony od-do
5-7
Numer tomu
6
Identyfikator DOI
Liczba arkuszy
Autorzy
(liczba autorów: 8)
Pozostali autorzy
+ 7
Słowa kluczowe
en
MPS
mucopolysaccharidosis
Pediatric orphan disease
Enzyme replacement
Public health
Expensive therapies
Walking test
Streszczenia
Język
en
Treść
Enzyme replacement therapy in mucopolysaccharidosis type II (MPS II, Hunter disease) is extremely expensive and treatment effects are hardly predictable due to phenotypic variability [1]. We would like to address an additional problem — the paucity of robust clinical tests allowing for monitoring of effectiveness of enzymatic treatment. Since 2009 enzyme replacement therapy with idursulfase has been offered to all Polish patients with MPS II aged > 5 years, independently on disease severity. A total of 40 patients have started treatment up to date. In 26 persons treatment was eventually discontinued due to disease progression, death of the patient (two cases), or anaphylaxis (two cases). Unfortunately, reaching the consensus on treatment failure required sometimes several years of observation, as the classic clinical monitoring parameters [2] and [3] were not always informative. Specifically: the distance covered in the six-minute walking test could not be applied in 20 non-ambulant patients, pulmonary function tests were performed only in older patients without intellectual disability and monitoring of liver size or of heart involvement was helpful only in those patients with significant hepatomegaly or cardiac dysfunction. Surprisingly, basic anthropometric measurements proved to be very useful for assessment of treatment effectiveness in some doubtful cases. No weight gain or even weight loss was observed in severely affected patients, contrary to those with milder disease in whom an overall anabolic effect was observed (Fig. 1). Our findings are consistent with previously published observations [4] and [5] reporting decline of the linear growth in untreated children with MPS II, which started at the age of four to six years.
Cechy publikacji
discipline:Medycyna
discipline:Medicine
Short communication
Komunikat o wynikach badań
Inne
System-identifier
PBN-R:749730
CrossrefMetadata from Crossref logo
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