Quality of life and participation in daily life of adults with Pompe disease receiving enzyme replacement therapy: 10 years of international follow‐up

Güngör, Deniz; Kruijshaar, Michelle E.; Plug, Iris; Rizopoulos, Dimitris; Kanters, Tim A.; Wens, S.C.A.; Reuser, Arnold; Doorn, Pieter A. van; Ploeg, Ans T. van der

doi:10.1007/s10545-015-9889-6

Cited by 48 publications

(61 citation statements)

References 32 publications

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“…Enzyme replacement therapy with alfa-glucosidase (ERT) has changed the natural history of AOPD[ 4 ]. Published studies show that ERT improves muscle function during the first months of treatment and stabilizes clinical situation over time[ 5 – 7 ].…”

Section: Introductionmentioning

confidence: 99%

Muscle MRI Findings in Childhood/Adult Onset Pompe Disease Correlate with Muscle Function

et al. 2016

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ObjectivesEnzyme replacement therapy has shown to be effective for childhood/adult onset Pompe disease (AOPD). The discovery of biomarkers useful for monitoring disease progression is one of the priority research topics in Pompe disease. Muscle MRI could be one possible test but the correlation between muscle MRI and muscle strength and function has been only partially addressed so far.MethodsWe studied 34 AOPD patients using functional scales (Manual Research Council scale, hand held myometry, 6 minutes walking test, timed to up and go test, time to climb up and down 4 steps, time to walk 10 meters and Motor Function Measure 20 Scale), respiratory tests (Forced Vital Capacity seated and lying, Maximun Inspiratory Pressure and Maximum Expiratory Pressure), daily live activities scales (Activlim) and quality of life scales (Short Form-36 and Individualized Neuromuscular Quality of Life questionnaire). We performed a whole body muscle MRI using T1w and 3-point Dixon imaging centered on thighs and lower trunk region.ResultsT1w whole body muscle MRI showed a homogeneous pattern of muscle involvement that could also be found in pre-symptomatic individuals. We found a strong correlation between muscle strength, muscle functional scales and the degree of muscle fatty replacement in muscle MRI analyzed using T1w and 3-point Dixon imaging studies. Moreover, muscle MRI detected mild degree of fatty replacement in paraspinal muscles in pre-symptomatic patients.ConclusionBased on our findings, we consider that muscle MRI correlates with muscle function in patients with AOPD and could be useful for diagnosis and follow-up in pre-symptomatic and symptomatic patients under treatment.Take home messageMuscle MRI correlates with muscle function in patients with AOPD and could be useful to follow-up patients in daily clinic.

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Section: Introductionmentioning

confidence: 99%

Muscle MRI Findings in Childhood/Adult Onset Pompe Disease Correlate with Muscle Function

et al. 2016

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“…Five of the 17 publications are based on separate analyses of the International Pompe Survey, a long-term prospective natural history study initiated 4 years prior to the approval of ERT and continuing today [ 29 , 30 , 32 , 33 , 36 ]. This survey was established to collect information on the course of the disease and its burden on patients, and includes patients from Australia, Germany, the Netherlands, the United Kingdom (UK), and the United States of America (US).…”

Section: Resultsmentioning

confidence: 99%

“…Two publications published before ERT approval describe participants treated in the absence of ERT [ 32 , 33 ]. Finally, two publications [ 29 , 30 ] are based on studies that were initiated before ERT approval and continued into the ERT era; therefore, these studies include patients who were not receiving ERT at study onset but transitioned to ERT during the study.…”

Section: Resultsmentioning

confidence: 99%

“…Seven articles describe the impact of ERT on HRQoL in LOPD (Table 2 ) [ 25 , 27 – 29 , 31 , 35 , 39 ]: van der Ploeg et al (2010) reported results from LOTS [ 31 ] (discussed above); Güngör et al [ 29 ] evaluated 174 untreated patients who transitioned to ERT during the study; Angelini et al [ 25 ] describe clinical response and changes in functional ability in a prospective cohort study of 11 adult patients; Strothotte et al [ 28 ] and Regnery et al [ 27 ] report data from an open-label observational trial in 44 and 38 adult patients, respectively, in Germany over periods of 12 and 36 months Freedman et al [ 35 ] present a cross-sectional analysis of seven families of young patients (age not specified) with LOPD in Australia, using semi-structured interviews; and van Capelle [ 41 ] reports a case series of two children and one adult with LOPD treated with ERT in the Netherlands.…”

Section: Resultsmentioning

confidence: 99%

“…As reported earlier, van der Ploeg et al found that untreated patients with LOPD had lower SF-36 scores at baseline, which did not improve significantly over 78 weeks’ treatment with ERT [ 31 ]. Similarly, Güngör et al [ 29 ], evaluated PCS and MCS components of the SF-36 during three time periods: pre-ERT, first 2 years of ERT, and after more than 2 years of ERT. Before ERT, the PCS decreased significantly by 0.73 score points per year (sp/y).…”

Section: Resultsmentioning

confidence: 99%

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The humanistic burden of Pompe disease: are there still unmet needs? A systematic review

et al. 2017

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BackgroundHumanistic burden considers the impact of an illness on a patient’s health-related quality of life (HRQoL), activities of daily living (ADL), caregiver health, and caregiver QoL. Humanistic burden also considers treatment satisfaction and adherence to treatment regimens. Pompe disease is an autosomal recessive, progressive, multisystemic neuromuscular disease. Approval of enzyme-replacement therapy (ERT) markedly improved prognosis for patients, but considerable morbidity and a substantial humanistic burden remain. This article characterizes the humanistic burden of Pompe disease through a systematic literature review.MethodsA systematic search of MEDLINE® and Embase® with back-referencing and supplementary literature searches was performed to retrieve data from interventional and non-interventional studies on the humanistic burden of Pompe disease. Publications were screened according to predefined criteria, extracted, and assessed for quality. Extracted data were narratively synthesized.ResultsNo publications on the humanistic burden of infantile-onset Pompe disease (IOPD) were identified. As such, of 17 publications included here, all are in patients with late-onset Pompe disease (LOPD). Thirteen publications were initiated after approval of ERT, two were initiated before, and two overlapped the approval of ERT. The review shows that LOPD patients have a significantly lower HRQoL than the general population, even if treated with ERT. On transitioning to ERT, treatment was associated with improvement in the physical component score of the SF-36 and fatigue, although the SF-36 mental component score remained stable. Physical HRQoL remained below population norms after 4 years of ERT. Significantly more ERT-treated patients reported pain than controls, and bodily pain worsened in later years following ERT initiation. Treatment-naïve LOPD patients had significantly poorer ADL functioning compared with the general population, although ERT stabilized deteriorating functioning impairment. ERT studies showed caregivers provide 17.7 h/week informal care on average. Fifty percent, 40% and <20% of caregivers reported mental health, physical health, and financial/relational problems, respectively. In ERT-naïve patients, wheelchair use and home ventilatory support was associated with lower physical HRQoL and ADL functioning. In ERT-treated patients, key factors predicting worse HRQoL and ADL functioning were higher respiratory distress, poorer sleep quality, greater pain, and more fatigue.ConclusionsPompe disease has a substantial humanistic burden, with strong inter-relationships among and between humanistic burden parameters and clinical progression.

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Extension of the Pompe mutation database by linking disease‐associated variants to clinical severity

et al. 2019

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Pompe disease is an autosomal recessive lysosomal storage disorder caused by disease‐associated variants in the acid alpha‐glucosidase (GAA) gene. The current Pompe mutation database provides a severity rating of GAA variants based on in silico predictions and expression studies. Here, we extended the database with clinical information of reported phenotypes. We added additional in silico predictions for effects on splicing and protein function and for cross reactive immunologic material (CRIM) status, minor allele frequencies, and molecular analyses. We analyzed 867 patients and 562 GAA variants. Based on their combination with a GAA null allele (i.e., complete deficiency of GAA enzyme activity), 49% of the 422 disease‐associated variants could be linked to classic infantile, childhood, or adult phenotypes. Predictions and immunoblot analyses identified 131 CRIM negative and 216 CRIM positive variants. While disease‐associated missense variants were found throughout the GAA protein, they were enriched up to seven‐fold in the catalytic site. Fifteen percent of disease‐associated missense variants were predicted to affect splicing. This should be confirmed using splicing assays. Inclusion of clinical severity rating in the Pompe mutation database provides an invaluable tool for diagnosis, prognosis of disease progression, treatment regimens, and the future development of personalized medicine for Pompe disease.

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Quality of life and participation in daily life of adults with Pompe disease receiving enzyme replacement therapy: 10 years of international follow‐up

Cited by 48 publications

References 32 publications

Muscle MRI Findings in Childhood/Adult Onset Pompe Disease Correlate with Muscle Function

Muscle MRI Findings in Childhood/Adult Onset Pompe Disease Correlate with Muscle Function

The humanistic burden of Pompe disease: are there still unmet needs? A systematic review

Extension of the Pompe mutation database by linking disease‐associated variants to clinical severity

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