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

Milverton, Joanne; Newton, Skye; Merlin, Tracy

doi:10.1007/s10545-018-0198-8

Cited by 7 publications

(6 citation statements)

References 35 publications

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“…Another noteworthy finding of our study was that there is no significant association between CHE and the QOL in patients with LOPD, which is inconsistent with studies conducted in the United States and Europe [ 54 , 55 ]. Although patients can have adverse infusion reactions, a systematic review of 21 international articles concluded that most adverse events were mild or moderate, and ERT is well tolerated in general [ 56 ].…”

Section: Discussioncontrasting

confidence: 99%

Quality of life and its contributors among adults with late-onset Pompe disease in China

Chen

Wang

Zhu

et al. 2021

Orphanet J Rare Dis

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Background Pompe disease (PD) is a rare inherited disorder caused by the deficiency of acid-α glucosidase, which leads to the impairment of organ and tissue functions and causes disabilities. As the first national survey on patients with late-onset PD (LOPD) in China, this study investigated the quality of life (QOL) of adult patients with LOPD in China and explored its contributors. Methods Data were derived from a nation-based, cross-sectional, self-response survey on rare diseases (RDs) in early 2018. Answers from 68 adult Chinese patients with LOPD were used for data analysis. QOL was measured using the World Health Organization Quality of Life: Brief Version. Covariates included age, gender, education, employment, reliance on assistive devices, medication history, social support, and disease economic burden. Data were analyzed using linear regression in R. Results For adult patients with LOPD, the average scores and standard deviations (SD) of the four dimensions of QOL were physical health = 33.77 (SD = 18.28), psychological health = 43.81 (SD = 21.70), environmental health = 39.43 (SD = 16.93), and social relationship = 46.20 (SD = 19.76); the scoring for each dimension was evaluated on a scale of 0 to 100. At the significance level of p < 0.05, with increasing age, the patients experienced a significant decrease in physical health QOL (β = − 0.75) and environmental health QOL (β = − 0.79). Those who relied heavily on assistive devices had lower perceived physical health (β = − 17.8), psychological health (β = − 22.76), environmental health (β = − 17.8), and social relationships (β = − 22.12) than those who did not. A one-unit increase in the amount of social support, as a form of social interaction, led to a significant increase in physical health (β = 0.28), psychological health (β = 0.71), environmental health (β = 0.72), and social relationships (β = 0.70). Conclusion Adult Chinese patients with LOPD had a lower physical health and QOL compared to their counterparts with other RDs. Being employed was found to affect the QOL of adult Chinese patients with LOPD in almost all dimensions. Encouraging adult Chinese patients with LOPD to be socially active and help them become more involved in social life might improve their QOL.

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Section: Discussioncontrasting

confidence: 99%

Quality of life and its contributors among adults with late-onset Pompe disease in China

Chen

Wang

Zhu

et al. 2021

Orphanet J Rare Dis

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“…Another noteworthy nding of our study was that CHE had no signi cant in uence on the QOL in patients with LOPD compared with other non-PD rare disease patients, which is inconsistent with studies conducted in the United States and Europe [45,46]. Although patients can have adverse infusion reactions, the expensive ERT has been highlighted in Western societies as a signi cant promoter of QOL, especially at the early stages of treatment [47].…”

Section: Discussioncontrasting

confidence: 81%

Quality of Life and Its Contributors Among Adults With Late-onset Pompe Disease in China

Chen

Wang

Jian-feng

et al. 2021

Preprint

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Background: Pompe disease (PD) is a rare inherited disorder caused by the deficiency of acid-ɑ glucosidase, which leads to the impairment of organ and tissue functions and causes disabilities. As the first national survey on patients with late-onset PD (LOPD) in China, this study investigated the quality of life (QOL) of adult patients with LOPD in China and explored its contributors. Methods: Data were derived from a nation-based, cross-sectional, self-response survey on rare diseases in early 2018. Answers from 68 adult Chinese patients with LOPD were used for data analysis. QOL was measured using the World Health Organization Quality of Life: Brief Version (WHOQOL-BREF). Covariates included age, gender, education, employment, reliance on assistive devices, medication history, social support, and disease economic burden. Data were analyzed using linear regression in R.Results: For adult patients with LOPD, the average scores and standard deviations (SD) of the four dimensions of QOL were physical health=33.77 (SD=18.28), psychological health=43.81 (SD=21.70), environmental health=39.43 (SD=16.93), and social relationship=46.20 (SD=19.76); the scoring for each dimension was evaluated on a scale of 0 to 100. At the significance level of p<0.05, with increasing age, the patients experienced a significant decrease in physical health QOL (β=-0.75) and environmental health QOL (β=-0.79). Those who relied heavily on assistive devices had lower perceived physical health (β=-17.8), psychological health (β=-22.76), environmental health (β=-17.8), and social relationships (β=-22.12) than those who did not. A one-unit increase in the amount of social support, as a form of social interaction, led to a significant increase in physical health (β=0.28), psychological health (β=0.71), environmental health (β=0.72), and social relationships (β =0.70).Conclusion: Adult Chinese patients with LOPD had a lower physical health and QOL compared to their counterparts with other rare diseases. Being employed was found to affect the QOL of adult Chinese patients with LOPD in almost all dimensions. Encouraging adult Chinese patients with LOPD to be socially active and help them become more involved in social life might improve their QOL.

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“…We decided to include also this endpoint because all together, 6-MWT, FVC, and muscle strength represent the first recommended functional assessment by the Swiss Guidelines of Pompe disease [31], in monitoring the patients, and are the same outcomes recommended by the European Pompe Consortium [12]. In the analysis, we included studies that evaluated the muscle strength using the MRC grading scale, the QMT and the QMFT, which are the most used tools to evaluate muscle strength in Europe [32] and they also were already used in previous reviews on patients with JOPD [13]. Additionally, we performed a meta-analysis to investigate the efficacy of ERT on muscle strength in patients with LOPD.…”

Section: Results In Contextmentioning

confidence: 99%

“…By the consensus meetings of the European Pompe Consortium, a systematic review with a narrative synthesis due to the expected heterogeneity was undertaken showing a beneficial effect of ERT at the group level but with varied treatment effects at the individual level [12]. For JOPD patients only, a systematic literature review without statistical synthesis due to a low quality of original articles suggested a short-term benefit from ERT through improved muscle strength and reduced need for assisted ventilation [13].…”

Section: Introductionmentioning

confidence: 99%

Clinical efficacy of the enzyme replacement therapy in patients with late-onset Pompe disease: a systematic review and a meta-analysis

et al. 2021

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In patients with late-onset Pompe disease (LOPD), the efficacy of the enzyme replacement therapy (ERT) with recombinant human alpha-glucosidase (rhGAA) is difficult to evaluate, due to the clinical heterogeneity and the small sample sizes in published studies. Therefore, we conduct a systematic literature review and meta-analysis of the literature to evaluate the efficacy of ERT in LOPD patients considering the walking distance, respiratory function and muscle strength. Particularly, six-minute walk test (6MWT), forced vital capacity (FVC), medical research council (MRC) grading, quantitative muscle testing (QMT), and quick motor function test (QMFT) were outcomes of interest. Overall, 619 studies were identified in PubMed, EMBASE and by manual search on July 18th, 2020. After an initial assessment, 16 studies were included in the meta-analysis, containing clinical data from 589 patients with LOPD. For the 6MWT, 419 patients were analyzed. Walking distance improved on average, 32.2 m greater during the observed period (p = 0.0003), compared to the distance at the baseline. The meta-analysis did not show any improvement in FVC and only a tendency towards better muscle strength after treatment with ERT, but the difference was not statistically significant. In conclusion, the available data showed that ERT has a significant beneficial efficacy in the improvement of walking distance in LOPD patients and a non-significant improvement of muscle strength. No improvement in respiratory capacity was found. More prospective and controlled trials are needed to demonstrate a clear clinical benefit of ERT.

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

Cited by 7 publications

References 35 publications

Quality of life and its contributors among adults with late-onset Pompe disease in China

Quality of life and its contributors among adults with late-onset Pompe disease in China

Quality of Life and Its Contributors Among Adults With Late-onset Pompe Disease in China

Clinical efficacy of the enzyme replacement therapy in patients with late-onset Pompe disease: a systematic review and a meta-analysis

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