Diagnosis and management of Pompe disease

Bhengu, L; Davidson, Alan; Toit, Paul du; Els, Carla; Gerntholtz, Trevor; Govendrageloo, K.; Henderson, B; Mubaiwa, L; Varughese, Sheeba

doi:10.7196/samj.7386

Cited by 7 publications

(14 citation statements)

References 7 publications

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“…Pompe disease is a rare and devastating condition for both patients and their families. The clinical burden of Pompe disease, including impact on survival and physical function, has been reviewed elsewhere [ 4 – 6 , 8 ]; however, no systematic review on the humanistic burden of Pompe disease has been published. Here, we present the findings from 17 published papers and systematically describe the humanistic burden of Pompe disease.…”

Section: Discussionmentioning

confidence: 99%

“…Pompe disease presents as a wide spectrum of phenotypes, ranging from the severe, rapidly progressive infantile-onset Pompe disease (IOPD) to the more slowly progressing late-onset Pompe disease (LOPD) that can manifest any time from early childhood to late adulthood [ 4 – 6 ].…”

Section: Introductionmentioning

confidence: 99%

“…Several limitations of ERT remain, including (1) dependency on high infusion volume, time-consuming infusions at least every other week [ 4 , 15 ], (2) associated adverse infusion reactions in some patients [ 4 , 15 ], (3) the inability to clear neuronal glycogen, with subsequent pathology progression and functional decline [ 16 – 18 ]; (4) the reappearance of glycogen in satellite cells [ 16 – 18 ]; (5) continued autophagic build-up in tissue [ 19 ]; and (6) antibody responses to ERT that mitigate the efficacy of ERT [ 20 ]. These limitations, along with the non-recoverable muscle function loss from Pompe disease, lead to a substantial burden of illness, both for treated and untreated patients.…”

Section: Introductionmentioning

confidence: 99%

“…However, the humanistic burden of a disease, rather than its clinical and economic burden, is typically of greatest concern to patients and their caregivers. Although several reviews have previously been published on the clinical burden of Pompe disease [ 4 – 6 , 8 ], the overall humanistic burden has been neglected. This article aims to characterize all aspects of the humanistic burden of Pompe disease and of ERT through a systematic review of the relevant literature for both IOPD and LOPD.…”

Section: Introductionmentioning

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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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

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

et al. 2017

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“…Also, guidance on monitoring and treating these patients is relatively scarce. There are currently no internationally accepted guidelines for the treatment (ERT) of older children and adults with Pompe disease, although national guidelines have been published for several European and non-European countries [8][9][10][11][12][13][14][15][16]. Finally, the development of centres of expertise and European Reference Networks in the field of rare diseases shows that there is an increasing need for organizations with focussed knowledge on specific rare diseases, including Pompe disease, to provide advice and leadership.…”

Section: Introductionmentioning

confidence: 99%

208th ENMC International Workshop: Formation of a European Network to develop a European data sharing model and treatment guidelines for Pompe disease Naarden, The Netherlands, 26–28 September 2014

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Kruijshaar

et al. 2015

Neuromuscular Disorders

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Comparison of recent pivotal recommendations for the diagnosis and treatment of late-onset Pompe disease using diagnostic nodes—the Pompe disease burden scale

et al. 2019

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Pompe disease is a rare autosomal-recessive disorder characterised by limb-girdle myopathy and respiratory weakness in the late-onset form (LOPD). Various mutations in the acid alpha-glucosidase gene lead to toxic lysosomal and extra-lysosomal glycogen accumulation in all organs due to ineffective glycogen clearance by the encoded enzyme. Only one randomized trial demonstrated beneficial effects of respiratory function and meters walked in the 6-min walking test with enzyme replacement therapy (ERT). These results were confirmed in several retrospective and prospective observations and in meta-analyses. Due to a potential lifelong therapy, moderate efficacy and high treatment costs time of ERT initiation and cessation is an ongoing matter of debate. So far, several national and international recommendations have been published with different criteria concerning diagnosis, initiation and cessation of ERT in LOPD. We therefore formally analysed recent published recommendations and consensus statements of LOPD using diagnostic nodes (DODES) as a special software tool. With DODES, an objective analysis becomes possible if the content of the recommendations is represented as algorithms using cross-compatible elements. This analysis formally disclosed both, areas of great heterogeneity and concordance for the diagnosis and management of LOPD and paved the way for a Pompe disease burden scale focussing on ERT initiation. According to this investigation further clinical research should concentrate on ERT in pre-symptomatic and severely affected LOPD patients and on cessation criteria for ERT as these issues are areas of international uncertainty and discordance.

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Diagnosis and management of Pompe disease

Cited by 7 publications

References 7 publications

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

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

208th ENMC International Workshop: Formation of a European Network to develop a European data sharing model and treatment guidelines for Pompe disease Naarden, The Netherlands, 26–28 September 2014

Comparison of recent pivotal recommendations for the diagnosis and treatment of late-onset Pompe disease using diagnostic nodes—the Pompe disease burden scale

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