Glycogen storage disease type II (Pompe disease) – influence of enzyme replacement therapy in adults

Merk, T; Wibmer, Thomas; Schümann, Christian; Krüger, Stefan

doi:10.1111/j.1468-1331.2008.02377.x

Cited by 48 publications

(43 citation statements)

References 11 publications

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“…This suggests that starting ERT early in the disease course may be beneficial [35]. Our study did not confirm these findings however, the low number (n = 7) of younger patients (below the age of 40), mean that this result should be interpreted with caution.…”

Section: Discussioncontrasting

confidence: 53%

“…Studies that documented some positive findings had limitations including absence of a control group, short duration of follow-up and heterogeneity of patients [18,24,25,40]. Additionally, the use of ventilator support, which itself has a positive effect on pulmonary function in those patients might have altered the patients' clinical status and thus affected the therapy assessment results [41].…”

Section: Discussionmentioning

confidence: 99%

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Observational clinical study of 22 adult-onset Pompe disease patients undergoing enzyme replacement therapy over 5years

Stępień

Hendriksz

Roberts

et al. 2016

Molecular Genetics and Metabolism

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Pompe disease is an autosomal recessive disease resulting from deficiency of the acid alpha-glucosidase (GAA). The late-onset Pompe Disease (LOPD) patients develop muscular and respiratory complications later in life. We describe a retrospective observational cohort study including 22 patients with LOPD. The cohort was assessed at baseline before Enzyme Replacement Therapy (ERT) with alglucosidase alpha (20 mg/kg biweekly) was com-menced and subsequently relevant information was collected at 2, 4 and 5 years later. The median age of the patients at study entry was 44 years (16-64 years), with median disease duration of 11.5 years (4-31 years). At baseline, 10 patients (45%) could walk without support, 12 (55%) could walk with unilateral or bilateral sup-port including 3/12 were wheelchair bound. Mean predicted FVC % was 55.7 (95% CI 45-66) of predicted normal at baseline and showed no significant change after 5 years (54.6 (95% CI 43-66)), (all p = 0.9815). Mean FVC %supine was 41.8 (95% CI 33.8-49) of predicted normal at baseline and remained significantly unchanged at 5 years (48.4 (95% CI 37-59.6)), (all p = 0.8680). The overnight non-invasive ventilator dependence increased by 18.2% as compared with baseline and requirement of mobility aids increased during this period by 5.2% as compared with the baseline. Mean walking distance at 6 min walk test was 411.5 (95% CI 338-485) at baseline, 266.5 (95% CI 187-346) m at 2 years, 238.6 (95% CI 162-315) m at 4 years and 286.8 (95% CI 203-370) m at 5 years (p = 0.1981; ANOVA was completed only for 14 patients). A gradual decline in FVC% predicted was noted only in four cases and a decline in FVC% supine in two other. Only one patient showed a decline in both pulmonary function tests. In all remaining cases (17/22) respiratory function remains stable. In conclusion overall pulmonary function tests and mobility remained stable for 5 years in majority of patients on ERT. However, in some patients they continued to decline in spite of ERT resulting in increased number of patients requiring ventilation and increase wheel chair dependence at the end of 5 years.

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Section: Discussioncontrasting

confidence: 53%

Section: Discussionmentioning

confidence: 99%

Observational clinical study of 22 adult-onset Pompe disease patients undergoing enzyme replacement therapy over 5years

Stępień

Hendriksz

Roberts

et al. 2016

Molecular Genetics and Metabolism

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“…SCF also increased , especially during the first 6 months of ERT, and so did BMI and percent fat mass. Other authors (Strothotte et al 2010;Merk et al 2009) and our own previous observations (Ravaglia et al 2008(Ravaglia et al , 2010 pointed to an increase in BMI during ERT. Authors tend to interpret the weight gain as a sign of clinical improvement and provide putative explanations, such as decreased movement-related and respiration-related energy expenditure along with clinical motor and respiratory improvement (Ravaglia et al 2010).…”

Section: Discussionmentioning

confidence: 87%

“…The therapeutic indications, updated in January 2010, still report that "the benefits of Myozyme in patients with late-onset Pompe disease have not been established" (www.ema.europa.eu/ humandocs/Humans/EPAR/myozyme/myozyme.htm). To date, a limited number of trials on late-onset series have been published (Strothotte et al 2010;Merk et al 2009;van der Ploeg et al 2010). Motor outcome is usually assessed by the six-minute walking test (6MWT) (Enright and Sherrill 1998), whose results depend on muscle strength, but also on factors such as resistance to fatigue, and respiratory outcome.…”

Section: Introductionmentioning

confidence: 99%

Changes in skeletal muscle qualities during enzyme replacement therapy in late‐onset type II glycogenosis: temporal and spatial pattern of mass vs. strength response

Ravaglia

Pichiecchio²,

Ponzio

et al. 2010

J of Inher Metab Disea

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Muscle quality is defined as muscle strength generated per unit muscle mass. If enzyme replacement therapy (ERT) has some effects on type II glycogenosis (GSDII) skeletal muscle pathology, we should be able to measure a change in strength and mass. We conducted a prospective study including 11 patients aged 54.2 ± 11.2 years, referring to a single institution and receiving ERT for ≥2 years. Median Walton score was 3 (2.5-6). Lower limb skeletal muscles were assessed by dynamometry and quantitative muscle MRI. Three segments (anterior thigh, posterior thigh, leg) were analysed separately. Clinical-MRI correlations were searched for at T0, T6/T8, and T18/24. Changes in lean and fat body composition were assessed by bioelectrical impedance analysis. We found that the anterior thigh showed the best therapeutic response, with an improvement in muscle quality (muscle mass: +7.5%, p = 0.035; strength: +45%, p = 0.002). BMI and lean body mass increased (p = 0.007). Patients with low BMI showed a better outcome. Intramuscular fat accumulation significantly progressed in spite of ERT (+3.7%, p = 0.001), especially in the poorly responsive posterior thigh muscles. Both clinical assessment and MRI revealed a definite improvement in the anterior thigh muscles. However, progression of intramuscular fat accumulation during ERT, as well as the limited responsiveness of posterior thigh muscles, suggests the necessity for early treatment intervention. The better outcome of patients with low BMI, if confirmed, may indicate that dietary protocols could be adopted as adjuvant measures to ERT in adult GSDII.

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“…Five articles published data on how far patients with JOPD could walk on the 6MWT and one article reported on the time taken for the 10MWT before and after treatment with alglucosidase alfa (Bembi et al 2010;Deroma et al 2014;Ishigaki et al 2012;Korpel et al 2009;Merk et al 2009;van Capelle et al 2010). Results for the 6MWT are summarised in Fig.…”

Section: Gross Motor Functionmentioning

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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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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Glycogen storage disease type II (Pompe disease) – influence of enzyme replacement therapy in adults

Abstract: Enzyme replacement therapy seems to be a long-term effective therapy in adult patients with Pompe disease. Whether all patients will profit from an improvement of symptoms or at least a stabilisation of the otherwise progressive disease is currently not definitively clear.

Cited by 48 publications

References 11 publications

Observational clinical study of 22 adult-onset Pompe disease patients undergoing enzyme replacement therapy over 5years

Observational clinical study of 22 adult-onset Pompe disease patients undergoing enzyme replacement therapy over 5years

Changes in skeletal muscle qualities during enzyme replacement therapy in late‐onset type II glycogenosis: temporal and spatial pattern of mass vs. strength response

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

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