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

Barak, Shlomo; Anikster, Yair; Sarouk, Ifat; Stern, Eve; Eisenstein, Etzyona; Yissar, Tamar; Sherr-Lurie, Nir; Raas‐Rothschild, Annick; Guttman, Dafna

doi:10.3390/diagnostics10020108

Cited by 7 publications

(6 citation statements)

References 47 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Our growth data in the two infants are remarkable given the progressive deviation from normal growth curves after 2 years of age described for untreated patients with Morquio A syndrome [2,14,22]. These observations are particularly relevant considering the very limited data currently available for Morquio A patients starting ERT at this early age [22,24,25]. Our data confirm recent findings from a study of two siblings with Morquio A starting ERT at the ages of 54 months and 11 months.…”

Section: Discussionsupporting

confidence: 88%

“…Our data confirm recent findings from a study of two siblings with Morquio A starting ERT at the ages of 54 months and 11 months. Over 4.5 years of treatment, growth of the youngest sibling deviated less from the norms than that of the older sibling, although a significant growth retardation was still seen after 2 years of age [24]. Other studies showed mixed results [22,25].…”

Section: Discussionmentioning

confidence: 93%

See 1 more Smart Citation

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

Kılavuz

Başaran

Kör

et al. 2021

Orphanet J Rare Dis

View full text Add to dashboard Cite

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.

show abstract

Section: Discussionsupporting

confidence: 88%

Section: Discussionmentioning

confidence: 93%

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

Kılavuz

Başaran

Kör

et al. 2021

Orphanet J Rare Dis

View full text Add to dashboard Cite

show abstract

“…Earlier introduction of ERT in MPS patients may improve disease course in the long-term or prevent permanent damage (Muenzer, 2011). Although early diagnosis and initiation of ERT do not reverse orthopedic and musculoskeletal problems and developmental retardation, it can slow the rate of disease progression (Barak et al, 2020). In our study, ERT did not result in a difference in motor functions of the patients as assessed by 6MWT, TUG and functional reach tests and only functional independence level was higher in children receiving ERT.…”

Section: Discussionmentioning

confidence: 45%

Effects of Enzyme Replacement Therapy on Quality of Life, Functional Independence and Aerobic Capacity in Children with Mucopolysaccharidosis

SÖKÜCÜ

Yigit

Pektas

et al. 2022

Black Sea Journal of Health Science

View full text Add to dashboard Cite

The mucopolysaccharidosis (MPS) can lead to poor endurance and mobility, often associated with pain, restricted range of motion (ROM), low energy levels and fatigue, negatively affecting quality of life and activities of daily living. This study aimed to examine the impact of enzyme replacement therapy (ERT) on aerobic capacity, functional independence and quality of life in children with MPS and to determine the anxiety and depression levels of their caregivers. Study Design established in Cross sectional study. Twelve children aged 3 to 11 years were included in the study. The subjects were divided into two groups according to the use of ERT. Quality of life and functional independence were assessed using the Pediatric Quality of Life Inventory (PedsQL) and Functional Independence Measure for Children (WeeFIM). The 6-minute walk test (6MWT) and timed up and go test (TUG) were used to evaluate aerobic capacity. Anxiety and depression levels of parents were assessed using the Beck Anxiety Inventory (BAI) and Beck Depression Inventory (BDI), respectively. A total of 12 MPS patients 7 boys (58.3%) and 5 girls (41.7%) with a mean age of 5.58±2.67 years were included in the study.1 patient had MPS type I, 2 patients had MPS type III, 5 patients had MPS type IV, and 4 patients had MPS type VI. Six patients were receiving ERT. The children had a mean 6MWT score of 330.83±114.29, a mean TUG score of 14.24±5.71 sec, a mean PedsQL score of 46.83±14.03 and a mean WeeFIM score of 70.83±26.85. Their caregivers had a mean BAI score of 19.25±10.95 and a mean BDI score of 19.41±6.81. A significant difference was found between the children receiving ERT and those not receiving in the WeeFIM scores (P<0.05); other parameters were comparable between the groups (P>0.05). ERT did not change aerobic capacity and quality of children with MPS but increased their level of functional independence. Multisystem involvement in MPS children may affect anxiety and depression levels of their caregivers but ERT does not seem to have any effect on this psychosocial aspect.

show abstract

“…Elosulfase alfa (Vimizim TM ) was introduced as the first medication approved by the US Food and Drug Administration (FDA) for the treatment of MPS IV in April 2014 (1,2,13,14) and by National Institute for Health and Care Excellence (NICE) in the UK in December 2015 (15). Elosulfase alfa is an enzyme replacement therapy (ERT) providing exogenous N-acetylgalactosamine-6-sulfatase, which improves the catabolism of C6S and KS (15).…”

Section: Introductionmentioning

confidence: 99%

Elosulfase Alfa Treatment in Morquio A Patients in Iran: A Before and After Study

et al. 2021

View full text Add to dashboard Cite

Background: Morquio A, an autosomal recessive lysosomal storage disease, is caused by a defect in the enzyme N-acetyl-galactosamine-6-sulfatase. This leads to the accumulation of the glycosaminoglycans chondroitin-6-sulfate (C6S) and keratan sulfate (KS), resulting in various skeletal manifestations, multisystemic impairments, and significant morbidities. Objectives: This study aimed to evaluate the impact of the addition of elosulfase alfa to the hospital protocol on treating Iranian pediatricians with Morquio A syndrome. Methods: A before and after study was conducted on ten patients with Morquio A syndrome diagnosis from 2019 to 2020. Elosulfase alfa was prescribed with the standard dose of 2 mg/kg/weekly IV infusion for 54 weeks. Then, growth indices, quality of life, and cardiopulmonary data were collected by research assistants using a pre-designed check. Data were entered in SPSS version 23. Quantitative variables were compared between the two periods using the Student's t-test, and qualitative variables were compared using the χ2 test or Fisher's exact test. Results: Ten pediatricians with MPS IV were included, seven of whom were female, with the mean age of 5.8 ± 2.3 years. The meantime for walking 6 m (P = 0.005), standing (P = 0.005), the stair climb test (P = 0.007), and quality of life (P = 0.015) had significant statistical difference before and after treatment by elosulfase alfa. Conclusions: The addition of elosulfase alfa in patients with Morquio A syndrome was associated with a significant improvement outcome in the ‘after’ treatment period.

show abstract

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

Cited by 7 publications

References 47 publications

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

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

Effects of Enzyme Replacement Therapy on Quality of Life, Functional Independence and Aerobic Capacity in Children with Mucopolysaccharidosis

Elosulfase Alfa Treatment in Morquio A Patients in Iran: A Before and After Study

Contact Info

Product

Resources

About