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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.

ABSTRACT: BACKGROUND:Pompe disease is an inheritable metabolic disorder for which enzyme replacement therapy (ERT) has been available since 2006. Effects of ERT have been shown on distance walked, pulmonary function and survival. We investigated whether it also improves quality of life and participation in daily life in adult patients with the disease. METHODS:In an international survey, we assessed quality of life (Short Form 36, SF-36) and participation (Rotterdam Handicap Scale, RHS) annually between 2002 and 2012. Repeated measurements mixed effects models were used to describe the data over time. RESULTS:Responses were available for 174 adult patients. In the periods before and after start of ERT, the median follow-up times were 4 years each (range 0.5-8). The SF-36 Physical Component Summary measure (PCS) deteriorated before ERT (-0.73 score points per year (sp/y); CI 95 % -1.07 to -0.39), while it improved in the first 2 years of ERT (1.49 sp/y; CI 0.76 to 2.21), and remained stable thereafter. The Mental Component Summary measure (MCS) remained stable before and during ERT. After declining beforehand (-0.49 sp/year; CI -0.64 to-0.34), the RHS stabilized under ERT. CONCLUSION:In adult patients with Pompe disease, ERT positively affects quality of life and participation in daily life. Our results reinforce previous findings regarding the effect of ERT on muscle strength, pulmonary function and survival.

SUBMITTER: Gungor D

PROVIDER: S-EPMC4754323 | biostudies-literature | 2016 Mar

REPOSITORIES: biostudies-literature

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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.

Güngör Deniz D Kruijshaar Michelle E ME Plug Iris I Rizopoulos Dimitris D Kanters Tim A TA Wens Stephan C A SC Reuser Arnold J J AJ van Doorn Pieter A PA van der Ploeg Ans T AT

Journal of inherited metabolic disease 20151103 2

<h4>Background</h4>Pompe disease is an inheritable metabolic disorder for which enzyme replacement therapy (ERT) has been available since 2006. Effects of ERT have been shown on distance walked, pulmonary function and survival. We investigated whether it also improves quality of life and participation in daily life in adult patients with the disease.<h4>Methods</h4>In an international survey, we assessed quality of life (Short Form 36, SF-36) and participation (Rotterdam Handicap Scale, RHS) ann ...[more]

PMID: 26531313

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Project description:BackgroundThe natural history of patients commencing dialysis in East Yorkshire is not well characterised and there is little convincing evidence which has studied the impact of potential factors prior to commencement of renal replacement therapy (RRT) at predicting mortality during dialysis. The aim of this study was to examine the previously published 5-year data on end stage renal disease and co-morbid risk factors for mortality at 10 years.MethodsAn observational cohort study of subjects commencing dialysis in 2001/02 in East Yorkshire with a mean follow up from dialysis initiation of 8.8 years. Predictors of mortality were determined by univariate, multivariate analysis and survival via Kaplan-Meier analysis. Assessment of the utility of the Tangri risk calculator was carried out in addition to slope change in eGFR prior to dialysis commencement.ResultsBaseline characteristics and the preferred mode of dialysis remained concordant with the original trial. The mortality rate at the end of the study period was 60% (56/94) with 30% (29) of patients having been transplanted. Highlighted in the 5 year data a significant proportion of mortality was made up of vascular disease and sepsis (71%) but this proportion had decreased (57%) by 10 years. Cardiac disease was the commonest cause of death but notably in 18% of patients, death was related to dialysis or withdrawal of treatment. Vascular disease and diabetes remained independent risk factors and predicative of mortality. Calcium-phosphate product which was associated in the early years with mortality was not in later years. Use of the risk calculator was predictive of commencement of RRT but not mortality but slope change in eGFR was predictive of mortality.ConclusionsAlthough diabetes and vascular disease remained predictive of mortality, interestingly calcium-phosphate levels are no longer significant and may be a more specific predictor of early cardiac mortality. Slope eGFR changes prior to RRT are a predictor of mortality. We speculate that aggressive management of cardiac risk factors in addition to early transplantation may be key to influencing the impact of survival in this cohort in addition to possible measures to delay renal progression.

Project description:Knowledge of experiences from prostate cancer is sparse in a longitudinal perspective. From a nursing perspective, results from combined qualitative and quantitative studies are lacking however would present the broadest knowledge base for best practice. Present descriptions of medical-physical symptoms such as urinary, bowel and sexual dysfunction from quantitative inquiries need be complemented with qualitative results. Such knowledge is essential in relation to treatment and communication with patients over the years and not only shortly after surgery.A longitudinal study was formatted to investigate general and specific health quality and sense of coherence quantitative alterations over three years. A general health quality module (EORTC QLC-C30) and a disease-specific module (EORTC PR-25) were applied for the longitudinal study together with the Orientation to life questionnaire (SOC), measuring a persons' sense of coherence. In order to strengthen reliability and compensate for low participation we used the Directed content analysis for interviewing and analysis. The method allows using findings from earlier research when interviewing along with detecting new areas. Twenty-one men were followed over three years and six of them, in the third year, accepted to be interviewed.We found high quality of life ratings and extended the study with follow-up interviews in year three, to investigate whether questionnaire results were in line with interview findings. We found high life quality and functioning ratings that were in line with qualitative descriptions. Interview analysis showed retrieval of life as lived before, yet in a different way, the men never forgot the diagnosis event, had a unique illness history worth hearing, and had come to terms with most treatment-related shortcomings. Sense of coherence ratings were medium to high and confirmed stability over time in comprehensibility, manageability and meaningfulness after prostate cancer treatment.Over the years, the men's negative experiences from shifted into 'a good life' though in a different way than before. The interpretation is supported in the study by quantitative results showing a high degree of functioning. The men's sense of coherence seamed to support their handling of life three years after prostate cancer treatment.

Project description:OBJECTIVE:To determine the effects of 10 years of enzyme replacement therapy (ERT) in adult patients with Pompe disease, focusing on individual variability in treatment response. METHODS:In this prospective, multicenter cohort study, we studied 30 patients from the Netherlands and France who had started ERT during the only randomized placebo-controlled clinical trial with ERT in late-onset Pompe disease (NCT00158600) or its extension (NCT00455195) in 2005 to 2008. Main outcomes were walking ability (6-minute walk test [6MWT]), muscle strength (manual muscle testing using Medical Research Council [MRC] grading), and pulmonary function (forced vital capacity [FVC] in the upright and supine positions), assessed at 3- to 6-month intervals before and after the start of ERT. Data were analyzed with linear mixed-effects models for repeated measurements. RESULTS:Median follow-up duration on ERT was 9.8 years (interquartile range [IQR] 8.3-10.2 years). At the group level, baseline 6MWT was 49% of predicted (IQR 41%-60%) and had deteriorated by 22.2 percentage points (pp) at the 10-year treatment point (p < 0.001). Baseline FVC upright was 54% of predicted (IQR 47%-68%) and decreased by 11 pp over 10 years (p < 0.001). Effects of ERT on MRC sum score and FVC supine were similar. At the individual level, 93% of patients had initial benefit of ERT. Depending on the outcome measured, 35% to 63% of patients had a secondary decline after ≈3 to 5 years. Still, at 10 years of ERT, 52% had equal or better 6MWT and/or FVC upright compared to baseline. CONCLUSIONS:The majority of patients with Pompe disease benefit from long-term ERT, but many patients experience some secondary decline after ≈3 to 5 years. Individual variation, however, is considerable. CLASSIFICATION OF EVIDENCE:This study provides Class IV evidence that for the majority of adults with Pompe disease, long-term ERT positively affects, or slows deterioration in, muscle strength, walking ability, and/or pulmonary function.

Dataset Information

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

Publications

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

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