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) 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.

• Authors: Hui Chen, Shaukat Khan, Betul Celik, Yasuyuki Suzuki, Yasuhiko Ago, Shunji Tomatsu
• Journal: Molecular genetics & genomic medicine (Mol Genet Genomic Med) Vol. 9 Issue 11 Pg. e1806 (11 2021) ISSN: 2324-9269 [Electronic] United States
• PMID: 34623762 (Publication Type: Evaluation Study, Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't)
• Copyright: © 2021 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC.

Topics

• Activities of Daily Living
• Adolescent
• Child
• Child, Preschool
• Cognition
• Enzyme Replacement Therapy
• Humans
• Infant
• Movement
• Mucopolysaccharidosis IV (drug therapy, therapy)
• Stem Cell Transplantation
• Young Adult