Inspiratory Muscle Training in Late-Onset Pompe Disease: The Effects on Pulmonary Function Tests, Quality of Life, and Sleep Quality

Aslan, Gökşen Kuran; Hüseyinsinoğlu, Burcu Ersöz; Oflazer, Piraye; Gürses, Hülya Nilgün; Kıyan, Esen

doi:10.1007/s00408-016-9881-4

Cited by 28 publications

(42 citation statements)

References 43 publications

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“…Generally, this tool was capable of detecting alterations in HrQoL scores across several IMDs [ 60 , 64 , 98 – 114 ], with the exception of MPS IV and Wilson disease [ 115 , 116 ]. Interestingly, whilst no changes were observed using SF-36 in late-onset Pompe disease, NHP was responsive in this patient niche [ 117 – 119 ]. Regarding EQ-5D, detectable variations were observed in Fabry disease patients [ 120 – 122 ].…”

Section: Resultsmentioning

confidence: 99%

Patient and observer reported outcome measures to evaluate health-related quality of life in inherited metabolic diseases: a scoping review

Pascoal

Brasil

Francisco

et al. 2018

Orphanet J Rare Dis

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BackgroundHealth-related Quality of Life (HrQoL) is a multidimensional measure, which has gained clinical and social relevance. Implementation of a patient-centred approach to both clinical research and care settings, has increased the recognition of patient and/or observer reported outcome measures (PROMs or ObsROMs) as informative and reliable tools for HrQoL assessment. Inherited Metabolic Diseases (IMDs) are a group of heterogeneous conditions with phenotypes ranging from mild to severe and mostly lacking effective therapies. Consequently, HrQoL evaluation is particularly relevant.ObjectivesWe aimed to: (1) identify patient and/or caregiver-reported HrQoL instruments used among IMDs; (2) identify the main results of the application of each HrQoL tool and (3) evaluate the main limitations of HrQoL instruments and study design/methodology in IMDs.MethodsA scoping review was conducted using methods outlined by Arksey and O’Malley. Additionally, we critically analysed each article to identify the HrQoL study drawbacks.ResultsOf the 1954 studies identified, 131 addressed HrQoL of IMDs patients using PROMs and/or ObsROMs, both in observational or interventional studies. In total, we identified 32 HrQoL instruments destined to self- or proxy-completion; only 2% were disease-specific. Multiple tools (both generic and disease-specific) proved to be responsive to changes in HrQoL; the SF-36 and PedsQL questionnaires were the most frequently used in the adult and pediatric populations, respectively. Furthermore, proxy data often demonstrated to be a reliable approach complementing self-reported HrQoL scores. Nevertheless, numerous limitations were identified especially due to the rarity of these conditions.ConclusionsHrQoL is still not frequently assessed in IMDs. However, our results show successful examples of the use of patient-reported HrQoL instruments in this field. The importance of HrQoL measurement for clinical research and therapy development, incites to further research in HrQoL PROMs’ and ObsROMs’ creation and validation in IMDs.Electronic supplementary materialThe online version of this article (10.1186/s13023-018-0953-9) contains supplementary material, which is available to authorized users.

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Section: Resultsmentioning

confidence: 99%

Patient and observer reported outcome measures to evaluate health-related quality of life in inherited metabolic diseases: a scoping review

Pascoal

Brasil

Francisco

et al. 2018

Orphanet J Rare Dis

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“…Overall HRQoL burden was described in four studies; one in the absence of ERT [ 32 ], two among patients treated with ERT [ 26 , 34 ], and one RCT in which patients were randomized to either placebo or ERT [ 31 ]. HRQoL was typically measured using the 36-item Short-Form Survey (SF-36) (Table 1 ).…”

Section: Resultsmentioning

confidence: 99%

“…Boentert et al [ 34 ] presented a cross-sectional analysis in which 60 of 65 German patients received ERT (mean ERT duration, 5 years), while Aslan et al [ 26 ] described a prospective cohort study of nine Turkish LOPD patients receiving ERT, who participated in an inspiratory muscle training (IMT) program to improve QoL. Boentert et al stated (without providing quantitative data) that despite ERT, LOPD patients had significantly lower HRQoL than the general population, based on the SF-36 subscales for physical functioning, physical role limitation, general health perception, vitality and social functioning.…”

Section: Resultsmentioning

confidence: 99%

“…Patient-reported symptoms were discussed in two publications in the absence of ERT [ 30 , 32 ], and five publications in the presence of ERT [ 26 , 34 , 36 , 38 , 39 ]. In Hagemans et al [ 32 ], where no ERT was available, excessive daytime sleepiness (EDS) was reported in approximately 25% of patients and sleep disturbances were reported in more than 40% of patients.…”

Section: Resultsmentioning

confidence: 99%

“…Patients receiving ERT also had poor sleep quality, as assessed by Aslan et al [ 26 ] using the Pittsburgh Sleep Quality Index (PSQI) to measure the quality and patterns of sleep during the previous four weeks. Among these patients, there was a median (interquartile range) total score of 5.0 (2.0–10.5; a cut off score of 5 or more distinguishes ‘bad sleepers’).…”

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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Safety and efficacy of short- and long-term inspiratory muscle training in late-onset Pompe disease (LOPD): a pilot study

Wenninger¹,

Greckl²,

Babačić³

et al. 2018

J Neurol

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Inspiratory Muscle Training in Late-Onset Pompe Disease: The Effects on Pulmonary Function Tests, Quality of Life, and Sleep Quality

Abstract: These results suggest that IMT has a positive effect on maximum inspiratory pressure in subjects with LOPD who are under ERT.

Cited by 28 publications

References 43 publications

Patient and observer reported outcome measures to evaluate health-related quality of life in inherited metabolic diseases: a scoping review

Patient and observer reported outcome measures to evaluate health-related quality of life in inherited metabolic diseases: a scoping review

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

Safety and efficacy of short- and long-term inspiratory muscle training in late-onset Pompe disease (LOPD): a pilot study

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