European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10-year experience

Ploeg, Ans T. van der; Kruijshaar, Michelle E.; Toscano, Antonio; Laforêt, Pascal; Angelini, Corrado; Lachmann, Robin; Pascual, Pascual; Roberts, Mark; Rösler, Kai M.; Stulnig, Thomas; Doorn, Pieter A. van; Bergh, Peter Van den; Vissing, John; Schöser, Benedikt

doi:10.17650/2222-8721-2018-8-4-19-34

Cited by 14 publications

(24 citation statements)

References 73 publications

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“…43,44 In 2017, European consensus guidelines were published on the use of ERT in adult patients with Pompe disease. 45 Within this consensus statement, recommendations on when to stop ERT treatment are posed. One of these recommendations is to reconsider whether ERT should be continued if skeletal muscle function or respiratory function has not stabilized or improved in the first 2 years after the start of treatment.…”

Section: Discussionmentioning

confidence: 99%

Large variation in effects during 10 years of enzyme therapy in adults with Pompe disease

Harlaar¹,

Hogrel

Perniconi

et al. 2019

Neurology

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ObjectiveTo determine the effects of 10 years of enzyme replacement therapy (ERT) in adult patients with Pompe disease, focusing on individual variability in treatment response. MethodsIn 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 mixedeffects models for repeated measurements. ResultsMedian 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. ConclusionsThe 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.Glossary ERT = enzyme replacement therapy; FVC = forced vital capacity; IQR = interquartile range; LOTS = Late-Onset Treatment Study; MEP = maximal expiratory pressure; MIP = maximal inspiratory pressure; MRC = Medical Research Council; M6P = mannose-6-phosphate; pp = percentage points; QMT = quantitative muscle testing; 6MWT = 6-minute walk test.

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Section: Discussionmentioning

confidence: 99%

Large variation in effects during 10 years of enzyme therapy in adults with Pompe disease

Harlaar¹,

Hogrel

Perniconi

et al. 2019

Neurology

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“…A total of 21 patients with LOPD, followed in the Neuromuscular Unit, University of Messina, Italy, were included according to common diagnostic criteria [20].…”

Section: Patients and Clinical Assessmentsmentioning

confidence: 99%

Central nervous system involvement in late‐onset Pompe disease: clues from neuroimaging and neuropsychological analysis

Musumeci¹,

Marıno

Granata³

et al. 2018

Euro J of Neurology

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Background and purpose Late‐onset Pompe disease (LOPD) is a rare, multisystem disorder that is well established to mainly impair skeletal muscle function. Systematic studies exploring brain functions in LOPD are lacking. The aim of this study was to detect morphological and functional brain alterations as well as neuropsychological impairment in LOPD. Methods We studied 21 patients (10 male, mean age 49 ± 18.4 years) with defined diagnosis of LOPD, divided into two groups: one with pre‐symptomatic hyperCKemia with no muscle weakness and the second with limb‐girdle muscle weakness. All patients underwent 3T magnetic resonance imaging (MRI) to obtain morphological/angiographic evaluation as well as normalized cortical brain volume and resting‐state functional MRI. Fazekas score was applied to quantify white matter lesions, whereas Smoker's criteria were used to examine dolichoectasia. A complete neuropsychological assessment was performed. Results The MRI data showed that 12/21 patients (57%) demonstrated signs of cerebral vasculopathy, with a Fazekas score >2 in 67%. According to Smoker's criteria, 11/21 patients (52%) had a dolichoectasia of the vertebrobasilar system; an intracranial aneurysm was detected in 3/21 patients (14%). Resting‐state functional MRI demonstrated significantly decreased brain connectivity in the salience network with a more relevant reduction in the bilateral middle and superior frontal gyrus. Gray matter atrophy correlated with age and disease duration. A mild impairment in executive functions was also identified. Conclusions In this LOPD cohort the results showed morphological and functional brain alterations with mild neuropsychological dysfunction, mainly in the limb‐girdle muscle weakness group. Cerebrovascular alterations seemed to be not related to common risk factors, suggesting a major role of enzymatic deficiency in the pathogenesis of brain abnormalities.

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“…We have read with interest the recently published article by van der Ploeg et al [1] presenting the European consensus for starting enzyme replacement therapy (ERT) in adult patients with Pompe disease. The recommendation is no treatment in the absence of skeletal muscle weakness and respiratory involvement, but the consensus does not stratify patients into juvenile onset or adult onset.…”

Section: Dear Sirmentioning

confidence: 99%

“…Under the current guidelines [1], the patient would not have received treatment. However, the patient's genotype is compatible with juvenile-onset Pompe disease [2] and he would have been ventilated if no ERT.…”

Section: Dear Sirmentioning

confidence: 99%

Disease progression in a pre‐symptomatically treated patient with juvenile‐onset Pompe disease – need for an earlier treatment?

Chien

Lee

Hwu

et al. 2018

Euro J of Neurology

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European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10-year experience

Abstract: .

Cited by 14 publications

References 73 publications

Large variation in effects during 10 years of enzyme therapy in adults with Pompe disease

Large variation in effects during 10 years of enzyme therapy in adults with Pompe disease

Central nervous system involvement in late‐onset Pompe disease: clues from neuroimaging and neuropsychological analysis

Disease progression in a pre‐symptomatically treated patient with juvenile‐onset Pompe disease – need for an earlier treatment?

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