scholarly journals Long-term endurance and safety of elosulfase alfa enzyme replacement therapy in patients with Morquio A syndrome

2016 ◽  
Vol 119 (1-2) ◽  
pp. 131-143 ◽  
Author(s):  
Christian J. Hendriksz ◽  
Rossella Parini ◽  
Moeenaldeen D. AlSayed ◽  
Julian Raiman ◽  
Roberto Giugliani ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Enzyme Replacement ◽  
Morquio A ◽  
Morquio A Syndrome ◽  
Elosulfase Alfa

scholarly journals Pharmacokinetic and Pharmacodynamic Evaluation of Elosulfase Alfa, an Enzyme Replacement Therapy in Patients with Morquio A Syndrome

2014 ◽  
Vol 53 (12) ◽  
pp. 1137-1147 ◽  
Author(s):  
Yulan Qi ◽  
Donald G. Musson ◽  
Becky Schweighardt ◽  
Troy Tompkins ◽  
Lynne Jesaitis ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Enzyme Replacement ◽  
Morquio A ◽  
Morquio A Syndrome ◽  
Elosulfase Alfa

scholarly journals A Case Report of a Japanese Boy with Morquio A Syndrome: Effects of Enzyme Replacement Therapy Initiated at the Age of 24 Months

2020 ◽  
Vol 21 (3) ◽  
pp. 989
Author(s):  
Akari Nakamura-Utsunomiya ◽  
Toshio Nakamae ◽  
Reiko Kagawa ◽  
Shuhei Karakawa ◽  
Sonoko Sakata ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Body Height ◽  
Decompression Surgery ◽  
Lysosomal Storage ◽  
Enzyme Replacement ◽  
Morquio A ◽  
Mps Iva ◽  
Morquio A Syndrome ◽  
Elosulfase Alfa

Background: Morquio A syndrome, mucopolysaccharidosis type IVA (MPS IVA), is a lysosomal storage disorder caused by the deficient activity of N-acetylgalactosamine-6-sulfatase (GalNac6S), due to alterations in the GALNS gene. This disorder results in marked abnormalities in bones and connective tissues, and affects multiple organs. Here, we describe the clinical course of a Japanese boy with MPS IVA who began enzyme replacement therapy (ERT) at the age of 24 months. Patient: the patient presented for kyphosis treatment at 22 months of age. An X-ray examination revealed dysostosis multiplex. Uronic acids were elevated in the urine and the keratan sulfate (KS) fraction was predominant. The leukocyte GalNac6S enzyme activity was extremely low. The patient exhibited the c.463G > A (p.Gly155Arg) mutation in GALNS. Based on these findings, his disease was diagnosed as classical (severe) Morquio A syndrome. An elosulfase alfa infusion was initiated at the age of 24 months. The patient’s body height improved from −2.5 standard deviation (SD) to −2 SD and his physical activity increased during the first 9 months on ERT. However, he gradually developed paralysis in the lower legs with declining growth velocity, which required cervical decompression surgery in the second year of the ERT. The mild mitral regurgitation, serous otitis media, and mild hearing loss did not progress during treatment. Conclusion: early initiation of the elosulfase alfa to our patient showed good effects on the visceral system and muscle strength, while its effect on bones appeared limited. Careful observation is necessary to ensure timely surgical intervention for skeletal disorders associated with neurological symptoms. Centralized and multidisciplinary management is essential to improve the prognosis of pediatric patients with MPS IVA.

scholarly journals Morquio A syndrome and effect of enzyme replacement therapy in different age groups of Turkish patients: a case series

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Sebile Kılavuz ◽  
Sibel Basaran ◽  
Deniz Kor ◽  
Fatma Derya Bulut ◽  
Sevcan Erdem ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Clinical Data ◽  
Treatment Initiation ◽  
Case Series ◽  
Enzyme Replacement ◽  
Morquio A ◽  
Over Time ◽  
Morquio A Syndrome

Abstract Background This case series includes longitudinal clinical data of ten patients with Morquio A syndrome from south and southeastern parts of Turkey, which were retrospectively collected from medical records. All patients received enzyme replacement therapy (ERT). Clinical data collected included physical appearance, anthropometric data, neurological and psychological examinations, cardiovascular evaluation, pulmonary function tests, eye and ear-nose-throat examinations, endurance in the 6-min walk test and/or 3-min stair climb test, joint range of motion, and skeletal investigations (X-rays, bone mineral density). Results At the time of ERT initiation, two patients were infants (1.8 and 2.1 years), five were children (3.4–7.1 years), and three were adults (16.5–39.5 years). Patients had up to 4 years follow-up. Most patients had classical Morquio A, based on genotypic and phenotypic data. Endurance was considerably reduced in all patients, but remained relatively stable or increased over time in most cases after treatment initiation. Length/height fell below normal growth curves, except in the two infants who started ERT at ≤ 2.1 years of age. All patients had skeletal and/or joint abnormalities when ERT was started. Follow-up data did not suggest improvements in skeletal abnormalities, except in one of the younger infants. Nine patients had corneal clouding, which resolved after treatment initiation in the two infants, but not in the other patients. Hepatomegaly was reported in seven patients and resolved with treatment in five of them. Other frequent findings at treatment initiation were coarse facial features (N = 9), hearing loss (N = 6), and cardiac abnormalities (N = 6). Cardiac disease deteriorated over time in three patients, but did not progress in the others. Conclusions Overall, this case series with Morquio A patients confirms clinical trial data showing long-term stabilization of endurance after treatment initiation across ages and suggest that very early initiation of ERT optimizes growth outcomes.

scholarly journals Clinical outcomes in elderly patients with Morquio a syndrome receiving enzyme replacement therapy - experience in a Colombian center

2020 ◽  
Vol 25 ◽  
pp. 100679
Author(s):  
Andrés Felipe Erazo-Narváez ◽  
Juan Manuel Muñoz-Vidal ◽  
Guillermo Hernando Rodríguez-Vélez ◽  
María Amparo Acosta-Aragón
Keyword(s):  
Elderly Patients ◽  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Clinical Outcomes ◽  
Enzyme Replacement ◽  
Morquio A ◽  
Morquio A Syndrome
Sign in / Sign up

Export Citation Format

Share Document