Long-term evaluation of respiratory outcomes in patients with late onset Pompe disease under enzyme replacement therapy: the role of postural drop and its impact on quality of life

2021 ◽  
Author(s):  
Grazia Crescimanno ◽  
Luca Palazzolo ◽  
Manuela Bertini ◽  
Salvatore Arrisicato ◽  
Oreste Marrone
Keyword(s):  
Quality Of Life ◽  
Enzyme Replacement Therapy ◽  
Pompe Disease ◽  
Late Onset ◽  
Enzyme Replacement ◽  
Term Evaluation ◽  
Respiratory Outcomes

scholarly journals Effects of Exercise Training on Functional Capacity and Quality of Life in a Patient with Late-Onset Pompe Disease Receiving Enzyme Replacement Therapy

2015 ◽  
Vol 2 (s1) ◽  
pp. S33-S33
Author(s):  
Rosângela M. Silva ◽  
Carmen S.C. Mendes ◽  
Carolina C. Aranda ◽  
Marco A. Curiati ◽  
Maret H. Rand ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Exercise Training ◽  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Functional Capacity ◽  
Pompe Disease ◽  
Late Onset ◽  
Enzyme Replacement

scholarly journals A Systematic Review and Meta-Analysis of Enzyme Replacement Therapy in Late-Onset Pompe Disease

2021 ◽  
Vol 10 (21) ◽  
pp. 4828
Author(s):  
Alícia Dorneles Dornelles ◽  
Ana Paula Pedroso Junges ◽  
Tiago Veiga Pereira ◽  
Bárbara Corrêa Krug ◽  
Candice Beatriz Treter Gonçalves ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Pompe Disease ◽  
Late Onset ◽  
Meta Analysis ◽  
Glycogen Storage ◽  
Enzyme Replacement ◽  
Sf 36 ◽  
Glycogen Storage Disorder

Pompe disease (PD) is a glycogen storage disorder caused by deficient activity of acid alpha-glucosidase (GAA). We sought to review the latest available evidence on the safety and efficacy of recombinant human GAA enzyme replacement therapy (ERT) for late-onset PD (LOPD). Methods: We systematically searched the MEDLINE (via PubMed), Embase, and Cochrane databases for prospective clinical studies evaluating ERT for LOPD on pre-specified outcomes. A meta-analysis was also performed. Results: Of 1601 articles identified, 22 were included. Studies were heterogeneous and with very low certainty of evidence for most outcomes. The following outcomes showed improvements associated with GAA ERT, over a mean follow-up of 32.5 months: distance walked in the 6-min walking test (6MWT) (mean change 35.7 m (95% confidence interval [CI] 7.78, 63.75)), physical domain of the SF-36 quality of life (QOL) questionnaire (mean change 1.96 (95% CI 0.33, 3.59)), and time on ventilation (TOV) (mean change −2.64 h (95% CI −5.28, 0.00)). There were no differences between the pre- and post-ERT period for functional vital capacity (FVC), Walton and Gardner-Medwin Scale score, upper-limb strength, or total SF-36 QOL score. Adverse events (AEs) after ERT were mild in most cases. Conclusion: Considering the limitations imposed by the rarity of PD, our data suggest that GAA ERT improves 6MWT, physical QOL, and TOV in LOPD patients. ERT was safe in the studied population. PROSPERO register: 135102.

Effect of long term enzyme replacement therapy in late onset Pompe disease: a single-centre experience

2020 ◽  
Author(s):  
George K. Papadimas ◽  
Christoforos Anagnostopoulos ◽  
Sophia Xirou ◽  
Helen Michelakakis ◽  
Gerasimos Terzis ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Pompe Disease ◽  
Late Onset ◽  
Single Centre ◽  
Enzyme Replacement ◽  
Single Centre Experience

scholarly journals Quality of life and participation in daily life of adults with Pompe disease receiving enzyme replacement therapy: 10 years of international follow-up

2015 ◽  
Vol 39 (2) ◽  
pp. 253-260 ◽  
Author(s):  
Deniz Güngör ◽  
Michelle E. Kruijshaar ◽  
Iris Plug ◽  
Dimitris Rizopoulos ◽  
Tim A. Kanters ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Pompe Disease ◽  
Daily Life ◽  
Enzyme Replacement

scholarly journals RUSSIAN PEDIATRIC EXPERIENCE ON ASSESSING THE EFFECTIVENESS OF IMIGLUCERASE FOR LONG-TERM ENZYME REPLACEMENT THERAPY OF GAUCHER DISEASE TYPE 1 IN CHILDREN

2017 ◽  
Vol 72 (5) ◽  
pp. 383-392
Author(s):  
G. B. Movsisyan ◽  
L. S. Namazova-Baranova ◽  
K. V. Savostyanov ◽  
O. S. Gundobina ◽  
E. L. Semikina ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Gaucher's Disease ◽  
Gaucher’S Disease ◽  
Enzyme Replacement ◽  
Group I

Background: Today the gold standard for the treatment of Gaucher’s disease (GD) is an enzyme replacement therapy (ERT) which allows to stop the main clinical manifestations of the disease and to improve the quality of life in patients. In Russian pediatric practice, there are no publications which assess the effects of long-term ERT in children with GD type 1.Aim: To evaluate the effectiveness of imiglucerase for the treatment of Gaucher’s disease of type 1 in child population of the Russian Federation.Materials and methods: An evaluation of the effectiveness of enzyme replacement therapy was carried out by analyzing the monitoring data of 60 patients who were entered in the Russian pediatric registry of Gaucher disease at the National Scientific and Practical Center for Children’s Health for the period 2013−2016. Patients received continuous infusions of imiglucerase at a dose of 30−60 U/kg/2 weeks. Among of 60 children with Gaucher’s disease type 1, in 35 (group I) were recorded the dynamics of clinical and laboratory-instrumental indices during three years of therapy and in 25 (group II) ― an assessment of changes in quality of life parameters according to the PedsQL questionnaire within one year of treatment.Results: In group I, statistically significant changes for all key parameters (p0.001) were detected: median hemoglobin level and platelet count increased from 106 to 128 g/l and from 85 to 165×109/l, respectively; median chitotriosidase level decreased from 8303 to 1680 nmol/h/mL; median linear size of length and width of the spleen decreased by 54.5% and 40.0%, respectively, and the right lobe of the liver by 15%; parameters of physical development (height and weight) improved and median bone mineral density Z-score for the lumbar spine increased from -1.3 to -0.3. In group II: basing on the answers of children and parents, a statistically significant improvement (p0,05) of physical, emotional, and social functioning and the total score of quality of life was observed in 17 children aged 5−18 years; according to the parents’ answers, the increase of physical functioning was detected in 8 children aged 2−4 years.Conclusions: The timely appointment of ERT with imiglucerase in adequate dose and the regular infusion regime allows achievement of the key points of the treatment within 3 years and significant improvement of the quality of life parameters in children with GD type 1 in a year.

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