Activity of daily living in mucopolysaccharidosis IVA patients: Evaluation of therapeutic efficacy

Abstract Background Mucopolysaccharidosis IVA (MPS IVA, also called Morquio A syndrome) is caused by a deficiency of N‐acetylglucosamine‐6‐sulfate sulfatase (GALNS) and results in skeletal dysplasia symptoms such as short stature and abnormal gait. Treatments include enzyme replacement therapy (ERT)...

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Autores principales:	Hui Chen, Shaukat Khan, Betul Celik, Yasuyuki Suzuki, Yasuhiko Ago, Shunji Tomatsu
Formato:	article
Lenguaje:	EN
Publicado:	Wiley 2021
Materias:	activity of daily living enzyme replacement therapy hematopoietic stem cell transplantation Morquio A MPS IVA Genetics QH426-470
Acceso en línea:	https://doaj.org/article/b80043a4953a40238c94a7180891960a
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spelling	oai:doaj.org-article:b80043a4953a40238c94a7180891960a2021-11-21T19:38:53ZActivity of daily living in mucopolysaccharidosis IVA patients: Evaluation of therapeutic efficacy2324-926910.1002/mgg3.1806https://doaj.org/article/b80043a4953a40238c94a7180891960a2021-11-01T00:00:00Zhttps://doi.org/10.1002/mgg3.1806https://doaj.org/toc/2324-9269Abstract Background Mucopolysaccharidosis IVA (MPS IVA, also called Morquio A syndrome) is caused by a deficiency of N‐acetylglucosamine‐6‐sulfate sulfatase (GALNS) and results in skeletal dysplasia symptoms such as short stature and abnormal gait. Treatments include enzyme replacement therapy (ERT) and hematopoietic stem cell transplantation (HSCT), but the effects are limited depending on the age of initiation and clinical phenotype. Thus, this study aims to assess the effects of treatments on MPS IVA patients compared to untreated MPS IVA patients and an age‐matched control group. Methods We used activity of daily living (ADL) survey with 4 sections: “movement,” “movement with cognition,” “cognition,” and “other MPS symptoms.” Lower scores indicate more assistance required. This study included 161 patients, 270 total surveys, and 70 patients with longitudinal data. Results We describe 134 severe patients and 25 attenuated patients. ERT and HSCT treatment improved only the “other MPS symptoms” section in severe patients. There were no differences between ERT and HSCT severe patient scores. A 19‐year‐old male patient, who had robust physical training, provided a significant increase in “movement” without treatment, suggesting the importance of exercise. Conclusion Overall, this ADL questionnaire has demonstrated validation and reliability in assessing the MPS IVA patients and therapeutic efficacy.Hui ChenShaukat KhanBetul CelikYasuyuki SuzukiYasuhiko AgoShunji TomatsuWileyarticleactivity of daily livingenzyme replacement therapyhematopoietic stem cell transplantationMorquio AMPS IVAGeneticsQH426-470ENMolecular Genetics & Genomic Medicine, Vol 9, Iss 11, Pp n/a-n/a (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	activity of daily living enzyme replacement therapy hematopoietic stem cell transplantation Morquio A MPS IVA Genetics QH426-470
spellingShingle	activity of daily living enzyme replacement therapy hematopoietic stem cell transplantation Morquio A MPS IVA Genetics QH426-470 Hui Chen Shaukat Khan Betul Celik Yasuyuki Suzuki Yasuhiko Ago Shunji Tomatsu Activity of daily living in mucopolysaccharidosis IVA patients: Evaluation of therapeutic efficacy
description	Abstract Background Mucopolysaccharidosis IVA (MPS IVA, also called Morquio A syndrome) is caused by a deficiency of N‐acetylglucosamine‐6‐sulfate sulfatase (GALNS) and results in skeletal dysplasia symptoms such as short stature and abnormal gait. Treatments include enzyme replacement therapy (ERT) and hematopoietic stem cell transplantation (HSCT), but the effects are limited depending on the age of initiation and clinical phenotype. Thus, this study aims to assess the effects of treatments on MPS IVA patients compared to untreated MPS IVA patients and an age‐matched control group. Methods We used activity of daily living (ADL) survey with 4 sections: “movement,” “movement with cognition,” “cognition,” and “other MPS symptoms.” Lower scores indicate more assistance required. This study included 161 patients, 270 total surveys, and 70 patients with longitudinal data. Results We describe 134 severe patients and 25 attenuated patients. ERT and HSCT treatment improved only the “other MPS symptoms” section in severe patients. There were no differences between ERT and HSCT severe patient scores. A 19‐year‐old male patient, who had robust physical training, provided a significant increase in “movement” without treatment, suggesting the importance of exercise. Conclusion Overall, this ADL questionnaire has demonstrated validation and reliability in assessing the MPS IVA patients and therapeutic efficacy.
format	article
author	Hui Chen Shaukat Khan Betul Celik Yasuyuki Suzuki Yasuhiko Ago Shunji Tomatsu
author_facet	Hui Chen Shaukat Khan Betul Celik Yasuyuki Suzuki Yasuhiko Ago Shunji Tomatsu
author_sort	Hui Chen
title	Activity of daily living in mucopolysaccharidosis IVA patients: Evaluation of therapeutic efficacy
title_short	Activity of daily living in mucopolysaccharidosis IVA patients: Evaluation of therapeutic efficacy
title_full	Activity of daily living in mucopolysaccharidosis IVA patients: Evaluation of therapeutic efficacy
title_fullStr	Activity of daily living in mucopolysaccharidosis IVA patients: Evaluation of therapeutic efficacy
title_full_unstemmed	Activity of daily living in mucopolysaccharidosis IVA patients: Evaluation of therapeutic efficacy
title_sort	activity of daily living in mucopolysaccharidosis iva patients: evaluation of therapeutic efficacy
publisher	Wiley
publishDate	2021
url	https://doaj.org/article/b80043a4953a40238c94a7180891960a
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Activity of daily living in mucopolysaccharidosis IVA patients: Evaluation of therapeutic efficacy

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