Abstract
Enzyme replacement therapy (ERT) with elosulfase alfa is the only approved therapy in Japan for patients with Morquio A syndrome, a lysosomal storage disorder inherited in an autosomal recessive fashion. The experience with ERT in severely affected, non-ambulatory patients has not been reported in previous studies. This case report describes clinical evidence for the 1-year efficacy and safety of ERT with elosulfase alfa in a severely affected, non-ambulatory, 47-year-old patient with Morquio A syndrome who needs intensive respiratory management. ERT with elosulfase alfa was well tolerated in this patient. Because of the possibility of potential hypersensitivity adverse events, special attention is needed when using ERT in patients with respiratory disorders. However, under the appropriate management of specialists, the patient in this case report showed significant respiratory improvement after starting ERT, and abdominal bloating was improved by gas evacuation. In addition, the patient was able to lift up her arms, reach behind her back, and move her legs slightly, and she recovered her grip strength. Her hearing loss improved and she could hear without a hearing aid. This report shows that ERT with elosulfase alfa can be used with appropriate respiratory care in patients with severe respiratory dysfunction.
Highlights
Morquio A syndrome is an autosomal recessive lysosomal storage disorder caused by a mutation in the gene for the enzyme N-acetylgalactosamine-6sulfatase (GALNS, EC 3.1.6.4) located on chromosome 16q24.3
enzyme replacement therapy (ERT) with elosulfase alfa was tolerated in this severely affected patient and improved her various symptoms, including those related to respiratory function, abdominal bloating, pain in the extremities, corneal clouding, and hearing loss
In previous clinical studies [4,5,6,7], the efficacy of elosulfase alfa ERT was assessed mainly by measures of endurance, such as the 6-minute walk test (6MWT), so that most patients needed to have a minimum level of walking ability
Summary
Morquio A syndrome (mucopolysaccharidosis type IV A; OMIM #253000) is an autosomal recessive lysosomal storage disorder caused by a mutation in the gene for the enzyme N-acetylgalactosamine-6sulfatase (GALNS, EC 3.1.6.4) located on chromosome 16q24.3. The efficacy evaluation in the clinical studies was mainly assessed by measures of endurance, such as the 6-minute walk test (6MWT) or the 3-minute stair climb test (3MSCT). In these studies, target patients were able to walk at least 200 m [4] or average between 30 m and 325 m in the 6MWT at baseline [5,6], except for one study in which criteria for enrollment included the inability to walk at least 30 m in the 6MWT at screening [7]. We present the efficacy and safety of ERT with elosulfase alfa over 1 year in a severely affected, non-ambulatory adult patient with Morquio A syndrome
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
