Clinical Utility of Elosulfase Alfa in the Treatment of Morquio A Syndrome

• Published in: Drug design, development and therapy development and therapy, 2022, Vol.16, p.143-154
• Main Authors: Lee, Chung-Lin, Chuang, Chih-Kuang, Chiu, Huei-Ching, Tu, Ru-Yi, Lo, Yun-Ting, Chang, Ya-Hui, Lin, Shuan-Pei, Lin, Hsiang-Yu
• Format: Article
• Language: English
• Subjects: Abnormalities; Bone dysplasia; Care and treatment; Chondroitinsulfatases - therapeutic use; Clinical trials; Cornea; Drug approval; Dysplasia; elosulfasealfa; Enzyme Replacement Therapy; Enzymes; galns; Glycosaminoglycans; Health services; Hearing loss; Hereditary diseases; Humans; Intervention; Intravenous administration; Lysosomal storage diseases; lysosomal storagedisorder; morquio a; mps iva; Mucopolysaccharidosis; Mucopolysaccharidosis IV - drug therapy; Mutation; Nervous system; Orthopedics; Patient satisfaction; Patients; Phenotype; Phenotypes; Respiratory function; Review; Sleep apnea; Tomography
• ISSN: 1177-8881; 1177-8881
• DOI: 10.2147/DDDT.S219433

Mucopolysaccharidosis type IVA (MPS IVA or Morquio A) is an autosomal recessive disorder and is one of the lysosomal storage diseases. Patients with MPS IVA have a striking skeletal phenotype but normal intellect. The phenotypic continuum of MPS IVA ranges from severe and rapid progress to mild and slow progress. The diagnosis of MPS IVA is usually suspected based on abnormal bone findings and dysplasia on physical examination and radiographic investigation in the preschool years. In the past, only supportive care was available. Due to the early and severe skeletal abnormalities, the orthopedic specialist was usually the main care provider. However, patients need aggressive monitoring and management of their systemic disease. Therefore, they need an interdisciplinary team for their care, comprising medical geneticists, cardiologists, pulmonary specialists, gastroenterologists, otolaryngologists, audiologists, and ophthalmologists. After the US Food and Drug Administration approved elosulfase alfa in 2014, patients older than 5 years could benefit from this treatment. Clinical trials showed clinically meaningful improvements with once-a-week intravenous dosing (2.0 mg/kg per week), significantly improving the 6min walk test, the 3min stair climb test, and respiratory function when compared with placebo. Elosulfase alfa is well-tolerated, and there is a good response indicated by decreasing urine glycosaminoglycans.