Clinical characteristics and effects of enzyme replacement therapy with elosulfase alfa in Korean patients with mucopolysaccharidosis type IVA

Mucopolysaccharidosis type IVA (MPS IVA) is a rare autosomal recessive disorder caused by a deficiency in N-acetylgalactosamine-6-sulfatase, which results in skeletal and connective tissue abnormalities, as well as various non-skeletal manifestations. Although enzyme replacement therapy (ERT) is rec...

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Bibliographic Details
Main Authors: Cho, T.-J (Author), Kim, H. (Author), Kim, H.Y (Author), Ko, J.M (Author), Lee, S.H (Author)
Format: Article
Language:English
Published: Elsevier Inc. 2022
Subjects:
Online Access:View Fulltext in Publisher
LEADER 02646nam a2200253Ia 4500
001 10-1016-j-ymgmr-2022-100869
008 220425s2022 CNT 000 0 und d
020 |a 22144269 (ISSN) 
245 1 0 |a Clinical characteristics and effects of enzyme replacement therapy with elosulfase alfa in Korean patients with mucopolysaccharidosis type IVA 
260 0 |b Elsevier Inc.  |c 2022 
856 |z View Fulltext in Publisher  |u https://doi.org/10.1016/j.ymgmr.2022.100869 
520 3 |a Mucopolysaccharidosis type IVA (MPS IVA) is a rare autosomal recessive disorder caused by a deficiency in N-acetylgalactosamine-6-sulfatase, which results in skeletal and connective tissue abnormalities, as well as various non-skeletal manifestations. Although enzyme replacement therapy (ERT) is recommended as the first-line treatment, the outcomes of ERT on bone pathology remain controversial. We report clinical characteristics and outcomes of ERT in 9 patients with MPS IVA (6 males and 3 females) from 7 unrelated families. During ERT, results from pulmonary function tests, echocardiography, the 6-min walk test, and the Functional Independence Measure were monitored biannually. Anthropometric data were compared with previously reported growth charts of subjects with MPS IVA. Among the 9 patients (5 severe, and 4 slowly progressive form), 7 patients (5 severe, 2 slowly progressive) commenced ERT at a median age of 3.8 years (range: 0.8–13.7 years) and were treated for a median duration of 1.9 years (range: 1.2–5.7 years). Mean height standard deviation scores using MPS IVA growth charts were + 0.4 (+0.0 in severe phenotypes) at initiation and + 0.7 (+0.2 in severe phenotypes) at the last follow-up. Four patients with severe phenotypes underwent surgery for cervical myelopathy and 1 patient with a slowly progressive phenotype underwent a bilateral pelvic osteotomy for hip pain during ERT. The parameters of pulmonary and heart function, endurance, and Functional Independence Measure scores were maintained or increased after ERT. Overall, ERT was well tolerated without deterioration of cardiorespiratory and functional outcomes during treatment, although skeletal outcomes, including growth, were limited. © 2022 The Author(s) 
650 0 4 |a Elosulfase alfa 
650 0 4 |a Enzyme replacement therapy 
650 0 4 |a Korean 
650 0 4 |a Morquio A syndrome 
650 0 4 |a Mucopolysaccharidosis type IVA 
650 0 4 |a Treatment outcome 
700 1 |a Cho, T.-J.  |e author 
700 1 |a Kim, H.  |e author 
700 1 |a Kim, H.Y.  |e author 
700 1 |a Ko, J.M.  |e author 
700 1 |a Lee, S.H.  |e author 
773 |t Molecular Genetics and Metabolism Reports