Use of the muscle volume analyzer to evaluate enzyme replacement therapy in late-onset Pompe disease

Sugai, Fuminobu; Kokunai, Yosuke; Yamamoto, Yoichi; Hashida, Goichi; Shimazu, Kengo; Mihara, Masahito; Inoue, Sumito; Sakoda, Saburo

doi:10.1007/s00415-009-5367-0

Cited by 6 publications

(9 citation statements)

References 4 publications

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“…Similar variable improvements in strength were seen in six patients when the HHD tool was used to measure muscle strength (Sugai et al 2010;van Capelle et al 2008van Capelle et al , 2010 (Fig. 4b).…”

Section: Gross Motor Functionmentioning

confidence: 61%

“…Muscle functioning appears to improve with use of alglucosidase alfa, again with the largest improvements seen in the first 6 to 12 months of treatment. Improvements in gastrointestinal function and fatigue may also occur with the use of ERT (Bernstein et al 2010;Sugai et al 2010). The heterogeneity in the severity of symptoms between patients at baseline and the differences in the extent of treatment effect makes it difficult to determine which patients will do better than others.…”

Section: Discussionmentioning

confidence: 99%

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The effectiveness of enzyme replacement therapy for juvenile-onset Pompe disease: a systematic review

Milverton

Newton

Merlin

2018

J Inherit Metab Dis

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Aim The objective of this research was to determine the effectiveness of enzyme replacement therapy for juvenile-onset Pompe disease (patients aged 2 to 18 years at symptom onset) by systematic review. Methods A systematic search was conducted according to a protocol designed a priori of bibliographic databases and search engines. Studies selected according to pre-specified criteria were assessed for quality and risk of bias using standardised appraisal tools. Data were reported according to PRISMA conventions (Liberati et al. in PLoS Med 6:e1000100, 2009) and synthesised using GRADE (Guyatt et al. in J Clin Epidemiol 64:380-382, 2011). Results Of 2537 titles screened, 1 case series and 16 case reports met the inclusion criteria. No studies reported on the impact of enzyme replacement therapy on the survival of juvenile-onset patients. Low level evidence found that respiratory function may improve or be maintained in the early months of therapy. Improved muscle function in the first 6 to 12 months was also suggested, but results may be confounded by natural development. Patients with less severe baseline status and treated at a younger age showed more response than patients with more severe baseline status, treated as adults. Conclusions Interpretation of the findings was hindered by the lack of good quality evidence. The available data suggests that some JOPD patients may benefit in the short term from ERT through improved muscle strength and a reduced need for assisted ventilation. A focus by clinicians on improved and more consistent evidence collection, and use of study designs tailored to rare conditions, would provide more definitive results.

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Section: Gross Motor Functionmentioning

confidence: 61%

Section: Discussionmentioning

confidence: 99%

The effectiveness of enzyme replacement therapy for juvenile-onset Pompe disease: a systematic review

Milverton

Newton

Merlin

2018

J Inherit Metab Dis

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“…However, the recombinant GAA enzyme does not effectively cross the blood–brain-barrier where the protein may influence CNS GAA deficiency (Kikuchi et al, 1998; Raben et al, 2003). Accordingly, while intravenous GAA delivery can target cardiac and skeletal muscle (Levine et al, 2008; Sugai et al, 2010), it will not effectively mitigate CNS glycogen accumulation (Byrne et al, 2011b). This point is highlighted by our recent case study report in which a Pompe infant which had received enzyme replacement therapy showed considerable glycogen accumulation in the spinal cord on post-mortem examination (DeRuisseau et al, 2009).…”

Section: Discussionmentioning

confidence: 99%

Hypoglossal Neuropathology and Respiratory Activity in Pompe Mice

Lee¹,

Qiu²,

Sandhu³

et al. 2011

Front. Physio.

103

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Pompe disease is a lysosomal storage disorder associated with systemic deficiency of acid α-glucosidase (GAA). Respiratory-related problems in Pompe disease include hypoventilation and upper airway dysfunction. Although these problems have generally been attributed to muscular pathology, recent work has highlighted the potential role of central nervous system (CNS) neuropathology in Pompe motor deficiencies. We used a murine model of Pompe disease to test the hypothesis that systemic GAA deficiency is associated with hypoglossal (XII) motoneuron pathology and altered XII motor output during breathing. Brainstem tissue was harvested from adult Gaa−/− mice and the periodic acid Schiff method was used to examine neuronal glycogen accumulation. Semi-thin (2 μm) plastic sections showed widespread medullary neuropathology with extensive cytoplasmic glycogen accumulation in XII motoneuron soma. We next recorded efferent XII bursting in anesthetized and ventilated Gaa−/− and B6/129 mice both before and after bilateral vagotomy. The coefficient of variation of respiratory cycle duration was greater in Gaa−/− compared to B6/129 mice (p < 0.01). Vagotomy caused a robust increase in XII inspiratory burst amplitude in B6/129 mice (239 ± 44% baseline; p < 0.01) but had little impact on burst amplitude in Gaa−/− mice (130 ± 23% baseline; p > 0.05). We conclude that CNS GAA deficiency results in substantial glycogen accumulation in XII motoneuron cell bodies and altered XII motor output. Therapeutic strategies targeting the CNS may be required to fully correct respiratory-related deficits in Pompe disease.

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“…Although some studies suggest that ERT is more beneficial if started early in the course of disease [8,10,13,15], there were also a number of studies assessing the effects of ERT specifically in more severely affected patients. Eleven studies (36 patients) focused on patients who were invasively ventilated, required ventilation during part of the day or had an FVC in a supine position below 30%, and/or were fully wheelchair dependent or able to walk <40 m [28,30,[38][39][40][41][42][43][44][45][46]. These studies indicate that respiratory function and muscle strength can also improve/stabilize in these patients.…”

Section: Severely Affected Patientsmentioning

confidence: 99%

European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10‐year experience

Ploeg

Kruijshaar

Toscano

et al. 2017

Euro J of Neurology

132

100

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Use of the muscle volume analyzer to evaluate enzyme replacement therapy in late-onset Pompe disease

Cited by 6 publications

References 4 publications

The effectiveness of enzyme replacement therapy for juvenile-onset Pompe disease: a systematic review

The effectiveness of enzyme replacement therapy for juvenile-onset Pompe disease: a systematic review

Hypoglossal Neuropathology and Respiratory Activity in Pompe Mice

European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10‐year experience

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