Close monitoring of initial enzyme replacement therapy in a patient with childhood-onset Pompe disease

Ishigaki, Keiko; Murakami, T.; Nakanishi, Toshio; Oda, Eri; Sato, Takatoshi; Ōsawa, Makiko

doi:10.1016/j.braindev.2011.05.004

Cited by 10 publications

(19 citation statements)

References 12 publications

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“…However, two other case reports (Furusawa et al 2012;Ishigaki et al 2012) did not find significant improvement in MMT after ERT. The two patients reported by Furusawa et al had severe disease requiring ventilation, while a 10-year-old boy reported by Ishigaki et al (2012) (first signs of JOPD at age 2) showed only minimal change on the MMT after 6 months of ERT compared to baseline.…”

Section: Gross Motor Functionmentioning

confidence: 79%

“…FVC was measured in five patients from one study who were tested after 4 to 5 years of ERT (Deroma et al 2014). case report 1 (Winkel et al 2004) was reported as improved after 3 years of ERT from 14% (value not reported, reported here as 15%); measurements illustrated here for case reports 3 and 4 (Orlikowski et al 2011) and 11 (Papadimas et al 2011) were taken in the sitting position; case report 7 (Ishigaki et al 2012) improved after 4 months ERT from 57 to 65% but was reported to return to baseline after 18 months (no value given, reported here as 57%); Korpel et al (2009) case showed no improvement after 6 months ERT from 26% at baseline (value not reported). Case notes B: data for case reports 6 and 7 (Furusawa et al 2012) were rounded to the nearest whole number for the purpose of reporting here FVC scores over 80% are considered to be within the normal range (Lachmann and Schoser 2013), so at baseline, three of the five patients were considered to have normal respiratory functioning.…”

Section: Cardiorespiratory Functionmentioning

confidence: 95%

“…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%

“…Two single case reports (Ishigaki et al 2012;Korpel et al 2009) found patients could walk further or longer after 4 and 6 months of ERT compared to baseline, but following that time, one case deteriorated and one case continued improving. There is little information on the natural history of JOPD, so it is difficult to know the extent to which improvements over time in a juvenile population are due to growth or to treatment benefit.…”

Section: Gross Motor Functionmentioning

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: 79%

Section: Cardiorespiratory Functionmentioning

confidence: 95%

Section: Gross Motor Functionmentioning

confidence: 99%

Section: Gross Motor Functionmentioning

confidence: 99%

See 2 more Smart Citations

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

Milverton

Newton

Merlin

2018

J Inherit Metab Dis

View full text Add to dashboard Cite

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“…On the other hand, this study did not include patients under 17 years of age, a factor to take into consideration when comparing with our case. Recently, Ishigaki et al 3 reported a 12-year-old boy with childhood-onset Pompe disease who showed improvement in cardiac wall thickness after 8 months of ERT. This case and ours would suggest that cardiac function of childhood-onset Pompe disease (a subtype of late-onset Pompe disease) may improve with ERT.…”

mentioning

confidence: 99%

Correction of a short cardiac PR interval in a 12-year-old girl with late-onset Pompe disease following enzyme replacement therapy

Fernández

Legido

Jethva

et al. 2012

Genetics in Medicine

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Forsha et al. 1 . Ninety patients were randomized 2:1 to enzyme replacement therapy (ERT) or placebo in a double-blind protocol. Electrocardiograms and echocardiograms were obtained at baseline and scheduled intervals over a 78-week study period. Eighty-seven adult patients (median age 44 years; 51% male) were included in the final analysis of the results. At baseline 10% of the patients had a short PR interval (<120 milliseconds). Other cardiac dysfunction included ventricular hypertrophy (12%), decreased ejection fraction (7%), and enlarged left-ventricular mass (5%). These findings are in contrast to those described in infantile Pompe disease in which electrocardiograms abnormalities are universal and cardiac hypertrophy is much more prevalent and severe. The study suggested that cardiovascular parameters, including short PR interval, may not be impacted by ERT. However, the authors recognized that the relatively small sample size could be a limiting factor in detecting small differences between baseline and follow-up data. The authors concluded that long-term evaluation of the cardiac effect of ERT in a larger cohort of late-onset Pompe patients is necessary.Because of the authors' conclusion, we would like to contribute our experience with a patient with late-onset Pompe disease, in whom ERT had a quick and prominent effect in the recovery of a short PR interval. We evaluated a 12-yearold girl for failure to thrive, proximal weakness, and fatigue of 2 years duration. Neurological examination revealed diffuse decrease of muscle mass in both the upper and lower extremities. Proximal muscle strength was 4+/5 in the upper extremities and 4/5 in the lower extremities. Deep tendon reflexes were normal in upper extremities, absent in the patellas, and decreased in the Achilles tendons. Laboratory evaluation revealed creatine phosphokinase 563U/L, aldolase 19U/L, aspartate aminotranferase 249U/L, and alanine aminotraferase 216U/L. Electromyogram and nerve conduction velocity studies were normal. Cardiac exam revealed a short PR interval of 70 milliseconds in leads II, III, V2, V4, V5, and V6. An echocardiogram was also performed, which demonstrated an intact atrial septum with no evidence of septal or free wall hypertrophy. There was adequate myocardial performance with a fractional shortening of the left ventricle of 0.42 seconds. The diagnosis of late-onset Pompe disease was confirmed by an abnormal low acid alpha glucosidase activity of 1.3 pmol/punch/hour in dried blood spot (normal range 10-49 pmol/punch/hour) and genetic studies. The patient had a c3213 T>G mutation within the first intron of the GAA gene (carried by her mother) and a mutation in exon 11 (c1636g>c), carried by her father, compatible with Pompe disease. Our patient remained clinically stable for 2 years with nutritional restrictions and physical therapy. ERT was initiated after an elevation of creatine phosphokinase and glucose tetrasaccharides in urine. She was treated with biweekly intravenous infusions of Lumizyme at a dose of 20 mg/kg body...

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Assessing disease severity in Pompe disease: The roles of a urinary glucose tetrasaccharide biomarker and imaging techniques

Young

Piraud

Goldstein

et al. 2012

American J of Med Genetics Pt C

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Defining disease severity in patients with Pompe disease is important for prognosis and monitoring the response to therapies. Current approaches include qualitative and quantitative assessments of the disease burden, and clinical measures of the impact of the disease on affected systems. The aims of this manuscript were to review a noninvasive urinary glucose tetrasaccharide biomarker of glycogen storage, and to discuss advances in imaging techniques for determining the disease burden in Pompe disease. The glucose tetrasaccharide, Glcα1-6Glcα1-4Glcα1-4Glc (Glc(4) ), is a glycogen-derived limit dextrin that correlates with the extent of glycogen accumulation in skeletal muscle. As such, it is more useful than traditional biomarkers of tissue damage, such as CK and AST, for monitoring the response to enzyme replacement therapy in patients with Pompe disease. Glc(4) is also useful as an adjunctive diagnostic test for Pompe disease when performed in conjunction with acid alpha-glucosidase activity measurements. Review of clinical records of 208 patients evaluated for Pompe disease by this approach showed Glc(4) had 94% sensitivity and 84% specificity for Pompe disease. We propose Glc(4) is useful as an overall measure of disease burden, but does not provide information on the location and distribution of excess glycogen accumulation. In this manuscript we also review magnetic resonance spectroscopy and imaging techniques as alternative, noninvasive tools for quantifying glycogen and detailing changes, such as fibrofatty muscle degeneration, in specific muscle groups in Pompe disease. These techniques show promise as a means of monitoring disease progression and the response to treatment in Pompe disease. © 2012 Wiley Periodicals, Inc.

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Close monitoring of initial enzyme replacement therapy in a patient with childhood-onset Pompe disease

Cited by 10 publications

References 12 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

Correction of a short cardiac PR interval in a 12-year-old girl with late-onset Pompe disease following enzyme replacement therapy

Assessing disease severity in Pompe disease: The roles of a urinary glucose tetrasaccharide biomarker and imaging techniques

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