Profile of alglucosidase alfa in the treatment of Pompe disease: safety, efficacy, and patient acceptability

Schneider, Ilka; Zierz, Stephan

doi:10.2147/rred.s72834

Cited by 3 publications

(3 citation statements)

References 113 publications

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“…Gait abnormalities in LOPD patients included reduced gait velocity, reduced stride length and a shift from time in single stance phase towards double limb support, which support the previous findings of McIntosh et al [10]. These abnormalities most likely result from proximal lower limb weakness common with this disease [31,32]. However, in the current study, the only strength characteristic that correlated with gait was for the association between hip strength with time in single leg support stance and step widths.…”

Section: Discussionsupporting

confidence: 88%

Characterization of Gait and Postural Regulation in Late-Onset Pompe Disease

et al. 2020

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Pompe disease is a multisystemic disorder with the hallmark of progressive skeletal muscle weakness that often results in difficulties in walking and balance. However, detailed characterization of gait and postural regulation with this disease is lacking. The objective of this investigation was to determine if differences exist between the gait and postural regulation of LOPD patients and a matched control group. The gaits of 16 patients with LOPD were assessed using a gait analysis mobile system (RehaGait) and a dynamometric treadmill (FDM-T 1.8). The Interactive Balance System (IBS) was used to evaluate postural regulation and stability. All measures were compared to individual reference data. Demographic (age, gender), morphological (body height, body mass) and clinical data (muscle strength according to the Medical Research Council Scale (MRC Scale), as well as the 6-min walking test and a 10-m fast walk) were also recorded. Compared to individual reference data, LOPD patients presented with reduced gait velocity, cadence and time in single stand. A total of 87% of LOPD patients had abnormalities during posturographic analysis presenting with differences in postural subsystems. This study provides objective data demonstrating impaired gait and posture in LOPD patients. For follow-up analysis and as outcome measurements during medical or physiotherapeutic interventions, the findings of this investigation may be useful.

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Section: Discussionsupporting

confidence: 88%

Characterization of Gait and Postural Regulation in Late-Onset Pompe Disease

et al. 2020

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“…Pompe disease (glycogenosis type II, OMIM# 232300) is a multi-systemic disorder caused by reduced activity of the lysosomal acid glycosidase α presenting with predominant muscular weakness, respiratory and cardiac insufficiency [ 1 ]. Autopsy studies showed glycogen accumulation also in smooth muscles of the tunica media of cerebral arteries indicating involvement of the cerebrovascular system [ 2 ].…”

Section: Introductionmentioning

confidence: 99%

Decreased outlet angle of the superior cerebellar artery as indicator for dolichoectasia in late onset Pompe disease

Hensel

Schneider

Wieprecht

et al. 2018

Orphanet J Rare Dis

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BackgroundLysosomal α-glucosidase deficiency (Pompe disease) not only leads to glycogen accumulation in skeletal muscle, but also in the cerebral arteries. Dolichoectasia of the basilar artery (BA) has been frequently reported. Therefore progression of BA dolichoectasia in late onset Pompe patients (LOPD) was studied.MethodsBA length, diameter and volume, and cerebral lesions were analysed by MRI/TOF-MR angiography or CT/CT angiography in 20 LOPD patients and 40 controls matching in age, sex- and cardiovascular risk factors. The height of BA bifurcation was assessed semi-quantitatively using the Smoker’s criteria and quantitatively by measuring the outlet angle of the superior cerebellar artery (SUCA). Nine patients were followed over 5 years.ResultsThe height of the BA bifurcation was abnormal in 12/20 (60%) LOPD patients and in 12/40 (30%) matched controls. The SUCA outlet angle was reduced in LOPD patients compared to controls (127 ± 33° vs. 156 ± 32°, p = 0.0024). The diameter, length and volume of the BA were significantly increased in LOPD patients compared to controls. 12/20 (60%) LOPD patients and 27/40 (68%) controls presented white matter lesions. During 5 years 2/9 LOPD patients developed an abnormal height of BA bifurcation according to the Smoker’s criteria and in all patients the SUCA outlet angle decreased (138 ± 34° vs. 128 ± 32°, p = 0.019). One patient with prominent basilar dolichoectasia experienced a thalamic hemorrhage.ConclusionPompe disease is associated with BA dilation, elongation and elevated bifurcation height of the BA which might result in cerebrovascular complications. The SUCA outlet angle seems to be useful for monitoring the progression of BA dolichoectasia.Electronic supplementary materialThe online version of this article (10.1186/s13023-018-0794-6) contains supplementary material, which is available to authorized users.

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“…There are two forms of Pompe disease, infantileonset Pompe disease (IOPD), and late-onset Pompe disease (LOPD) (10). IOPD is more severe and appears in the first months of life (11).…”

Section: Introductionmentioning

confidence: 99%

Cost-effectiveness analysis of enzyme replacement therapy (ERT) for treatment of infantile-onset Pompe disease (IOPD) in the Iranian pharmaceutical market

Hashempour

Davari

Pourreza

et al. 2020

IRDR

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Myozyme, enzyme replacement therapy, Pompe disease, cost-effectiveness, Iran Infantile-onset Pompe disease (IOPD) or acid maltase deficiency is a rare metabolic disorder. It is caused by a deficiency in functioning of the enzyme acid alpha-glucosidase and leads to the accumulation of glycogen in the liver, heart, muscle, and other tissues. Myozyme is an effective drug, but it imposes a heavy financial burden on societies and healthcare systems. Therefore, this study was conducted to analyze the cost-effectiveness of Myozyme compared to conventional therapy for the treatment of IOPD. PubMed, Scopus, Web of Science, and Cochrane library databases were searched on December 2018 to identify the effectiveness of Myozyme versus conventional therapy. Then, a cost-effectiveness and a cost utility study were conducted in patients suffering from IOPD. In this cost effectiveness and cost utility analysis, Markov and decision tree models were used for modeling. Model parameters were obtained from international data, and the perspective of the payer was considered. Every cycle was one year; the model was run for 22 cycles. TreeAge pro 2011 was used for analysis. Finally, one-way and probabilistic sensitivity analyses were performed. Two papers were included and 39 patients were evaluated as the treatment group in both studies. Results revealed the effectiveness of Myozyme. Results also revealed a wide range of adverse reactions. Enzyme replacement therapy (ERT) resulted in 4.21038 quality-adjusted life years (QALY) per $381,852. The incremental cost per QALY was $96,809 and the incremental cost per life years gained (LYG) was 74,429 over a 22-year time horizon. Sensitivity analysis indicated the robustness of the results. Myozyme is effective for IOPD and could increase the life expectancy of patients significantly. However, since the calculated incremental cost per QALY was 17 times higher than the GDP per capita of Iran, Myozyme is not cost effective in Iran.

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Profile of alglucosidase alfa in the treatment of Pompe disease: safety, efficacy, and patient acceptability

Cited by 3 publications

References 113 publications

Characterization of Gait and Postural Regulation in Late-Onset Pompe Disease

Characterization of Gait and Postural Regulation in Late-Onset Pompe Disease

Decreased outlet angle of the superior cerebellar artery as indicator for dolichoectasia in late onset Pompe disease

Cost-effectiveness analysis of enzyme replacement therapy (ERT) for treatment of infantile-onset Pompe disease (IOPD) in the Iranian pharmaceutical market

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