A higher dose of enzyme therapy in patients with classic infantile Pompe disease seems to improve ventilator-free survival and motor function

Gelder, C van; Plug, Iris; Kroos, Marian A.; Reuser, Arnold; Ploeg, Ans van der

doi:10.1186/1471-2474-14-s2-p19

Cited by 4 publications

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“…78 Thus, treatment with rhGAA at a higher dose of 40 mg/kg weekly was generally well tolerated and led to improved ventilator-free survival in children with classic CRIM+ IOPD. 6,76 Similarly, LOPD patients treated with ERT over five years exhibited a stable FVC in the upright position. 5 Withdrawal of ERT in patients with PD led to a reduced level of respiratory function, and resuming the treatment partially recovers it.…”

Section: Dovepressmentioning

confidence: 95%

“… 5 Similarly, increased ventilator-free survival is seen in IOPD patients. 6 Despite improved clinical outcomes in patients treated with ERT, the clinical response to ERT varies considerably between patients due to many factors including age, stage of treatment, dose of ERT, the Cross-Reactive Immunological Material (CRIM) status, and muscle fiber type. 7 , 8 CRIM-positive (CRIM+) patients produce some residual but nonfunctional GAA enzyme and better tolerate ERT.…”

Section: Introductionmentioning

confidence: 99%

“… 78 Thus, treatment with rhGAA at a higher dose of 40 mg/kg weekly was generally well tolerated and led to improved ventilator‐free survival in children with classic CRIM+ IOPD. 6 , 76 …”

Section: Introductionmentioning

confidence: 99%

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Monitoring and Management of Respiratory Function in Pompe Disease: Current Perspectives

El Haddad,

Khan,

Soufny

et al. 2023

TCRM

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Pompe disease (PD) is a neuromuscular disorder caused by a deficiency of acid alpha-glucosidase (GAA) – a lysosomal enzyme responsible for hydrolyzing glycogen. GAA deficiency leads to accumulation of glycogen in lysosomes, causing cellular disruption. The severity of PD is directly related to the extent of GAA deficiency – if no or minimal GAA is produced, symptoms are severe and manifest in infancy, known as infantile onset PD (IOPD). If left untreated, infants with IOPD experience muscle hypotonia and cardio-respiratory failure leading to significant morbidity and mortality in the first year of life. In contrast, late-onset PD (LOPD) patients have more GAA activity and present later in life, but also have significant respiratory function decline. Despite FDA-approved enzyme replacement therapy, respiratory insufficiency remains a major cause of morbidity and mortality, emphasizing the importance of early detection and management of respiratory complications. These complications include impaired cough and airway clearance, respiratory muscle weakness, sleep-related breathing issues, and pulmonary infections. This review aims to provide an overview of the respiratory pathology, monitoring, and management of PD patients. In addition, we discuss the impact of novel approaches and therapies on respiratory function in PD.

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Section: Dovepressmentioning

confidence: 95%

Section: Introductionmentioning

confidence: 99%

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Monitoring and Management of Respiratory Function in Pompe Disease: Current Perspectives

El Haddad,

Khan,

Soufny

et al. 2023

TCRM

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Enzyme replacement therapy for infantile-onset Pompe disease

Chen

Zhang

Liang

2015

Cochrane Database of Systematic Reviews

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Enzyme replacement therapy for infantile-onset Pompe disease

Chen

Zhang

Quan

2017

Cochrane Database of Systematic Reviews

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The search found no trials comparing the effectiveness and safety of enzyme replacement therapy to another intervention, no intervention or placebo. One small randomized controlled trial provided no robust evidence for which dosing schedule of alglucosidase alfa was more effective to treat infantile-onset Pompe disease. It is not deemed ethical to proceed with new placebo-controlled trials, therefore a randomized controlled trial with a large sample size comparing different dosing schedules of enzyme replacement therapy is needed. The main clinical outcomes (i.e. cardiac function, invasive ventilation, survival, motor development, adverse events (e.g. the development of antibodies)) should be standardized when evaluated and reported.

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A higher dose of enzyme therapy in patients with classic infantile Pompe disease seems to improve ventilator-free survival and motor function

Cited by 4 publications

References 0 publications

Monitoring and Management of Respiratory Function in Pompe Disease: Current Perspectives

Monitoring and Management of Respiratory Function in Pompe Disease: Current Perspectives

Enzyme replacement therapy for infantile-onset Pompe disease

Enzyme replacement therapy for infantile-onset Pompe disease

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