Characterization of a recombinant N-acetylgalactosamine-6-sulfate sulfatase produced in E. coli for enzyme replacement therapy of Morquio A disease

2012 ◽  
Vol 47 (12) ◽  
pp. 2097-2102 ◽  
Author(s):  
Angela Mosquera ◽  
Alexander Rodríguez ◽  
Carlos Soto ◽  
Felice Leonardi ◽  
Angela Espejo ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
E Coli ◽  
Enzyme Replacement ◽  
Morquio A

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.

Enzyme replacement therapy for Morquio A: an active recombinant N-acetylgalactosamine-6-sulfate sulfatase produced in Escherichia coli BL21

2010 ◽  
Vol 37 (11) ◽  
pp. 1193-1201 ◽  
Author(s):  
Alexander Rodríguez ◽  
Ángela J. Espejo ◽  
Alejandra Hernández ◽  
Olga L. Velásquez ◽  
Lina M. Lizaraso ◽  
...  
Keyword(s):  
Escherichia Coli ◽  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Escherichia Coli Bl21 ◽  
Enzyme Replacement ◽  
Morquio A

scholarly journals Long-Term Outcomes of Early Enzyme Replacement Therapy for Mucopolysaccharidosis IV: Clinical Case Studies of Two Siblings

Diagnostics ◽  
2020 ◽  
Vol 10 (2) ◽  
pp. 108 ◽  
Author(s):  
Sharon Barak ◽  
Yair Anikster ◽  
Ifat Sarouk ◽  
Eve Stern ◽  
Etzyona Eisenstein ◽  
...  
Keyword(s):  
Sleep Apnea ◽  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Growth Curves ◽  
Enzyme Replacement ◽  
Morquio A ◽  
Obstructive Sleep ◽  
Clinical Case Studies ◽  
Mps Iva

Enzyme replacement therapy (ERT) is one of the available therapies for mucopolysaccharidosis (MPS). This study presents a follow-up of two siblings with MPS IVA (Morquio A disease) that received ERT. Both siblings received weekly intravenous infusions of elosulfase alfa for 4.5 years. One sibling (patient 1, P1; male) started therapy at 54 months of age, and the other sibling (patient 2, P2; female) started at 11 months of age. ERT was well-tolerated. In comparison to P1, P2’s growth curves deviated less from the norm. The orthopedic deformities of P1 were more severe than those of P2 and required several surgical corrections. P1’s sleep test at 48 months revealed obstructive sleep apnea, while by the age of 102 months, parameters were normal. P2 never had sleep apnea. Only P1 demonstrated ear, nose, and throat clinical illnesses. In comparison to P1, P2’s physical function was better maintained. In conclusion, ERT was safe in both patients during a 4.5-year follow-up. Although the typical characteristics of this disease were similar in both patients, P1 had a complex clinical course in comparison to P2, which influenced function and quality of life. Therefore, in order to make the most of ERT, it may be more beneficial when initiated at a relatively young age.

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

Generation and characterization of recombinant feline β-galactosidase for preclinical enzyme replacement therapy studies in GM1 gangliosidosis

2008 ◽  
Vol 23 (2) ◽  
pp. 161-173 ◽  
Author(s):  
Tatiana I. Samoylova ◽  
Douglas R. Martin ◽  
Nancy E. Morrison ◽  
Misako Hwang ◽  
Anna M. Cochran ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Gm1 Gangliosidosis ◽  
Enzyme Replacement ◽  
Therapy Studies

scholarly journals Characterization of pre- and post-treatment pathology after enzyme replacement therapy for pompe disease

2006 ◽  
Vol 86 (12) ◽  
pp. 1208-1220 ◽  
Author(s):  
Beth L Thurberg ◽  
Colleen Lynch Maloney ◽  
Charles Vaccaro ◽  
Kendra Afonso ◽  
Anne Chun-Hui Tsai ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Pompe Disease ◽  
Post Treatment ◽  
Enzyme Replacement
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