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, Samuel Ignacio Pascual; Roberts, Mark; Rösler, Kai M.; Stulnig, Thomas; Doorn, Pieter A. van; Bergh, Peter Van den; Vissing, John; Schoser, Benedikt G. H.

doi:10.1111/ene.13285

Cited by 132 publications

(128 citation statements)

References 75 publications

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“…While enzyme replacement therapy clearly has some effect in adults over placebo, the question remains unanswered as to whether this translates into reduced morbidity (eg, requirement for ventilatory support or a wheelchair) and mortality 36. Enzyme replacement therapy is currently offered to all patients in the UK and there is a developing consensus regarding relevant start and stop criteria 37. A 5-year observational study of 22 adult-onset people with Pompe’s disease on enzyme replacement therapy showed that most sustained stable pulmonary function and mobility after 5 years of treatment 38…”

Section: An Overview Of Some Diseases To Consider In Adultsmentioning

confidence: 99%

Metabolic myopathies: a practical approach

et al. 2017

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Metabolic myopathies are a diverse group of rare genetic disorders and their associated muscle symptoms may be subtle. Patients may present with indolent myopathic features, exercise intolerance or recurrent rhabdomyolysis. Diagnostic delays are common and clinicians need a high index of suspicion to recognise and differentiate metabolic myopathies from other conditions that present in a similar fashion. Standard laboratory tests may be normal or non-specific, particularly between symptomatic episodes. Targeted enzyme activity measurement and next-generation genetic sequencing are increasingly used. There are now specific enzyme replacement therapies available, and other metabolic strategies and gene therapies are undergoing clinical trials. Here, we discuss our approach to the adult patient with suspected metabolic myopathy. We outline key features in the history and examination and discuss some mimics of metabolic myopathies. We highlight some disorders of glycogen and fatty acid utilisation that present in adulthood and outline current recommendations on management.

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Section: An Overview Of Some Diseases To Consider In Adultsmentioning

confidence: 99%

Metabolic myopathies: a practical approach

et al. 2017

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“…The measurement of GAA activity, usually on a dried blood spot (DBS), serves as diagnostic screening test (9), although the results must be confirmed by a second biochemical assay on different tissues as skeletal muscle, fibroblasts or leucocytes and corroborated by the presence of two GAA pathogenic mutations (10,11).…”

Section: Introductionmentioning

confidence: 99%

Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease

Savarese

Torella

Musumeci

et al. 2018

Neuromuscular Disorders

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Mutations in the GAA gene may cause a late onset Pompe disease presenting with proximal weakness without the characteristic muscle pathology, and therefore a test for GAA activity is the first tier analysis in all undiagnosed patients with hyperCKemia and/or limb-girdle muscular weakness. By using MotorPlex, a targeted gene panel for next generation sequencing, we analyzed GAA and other muscle disease-genes in a large cohort of undiagnosed patients with suspected inherited skeletal muscle disorders (n = 504). In this cohort, 275 patients presented with limb-girdle phenotype and/or an isolated hyperCKemia. Mutational analysis identified GAA mutations in ten patients. Further seven affected relatives were identified by segregation studies. All the patients carried the common GAA mutation c.-32-13T >G and a second, previously reported mutation. In the subcohort of 275 patients with proximal muscle weakness and/or hyperCKemia, we identified late-onset Pompe disease in 10 patients. The clinical overlap between Pompe disease and LGMDs or other skeletal muscle disorders suggests that GAA and the genes causing a metabolic myopathy should be analyzed in all the gene panels used for testing neuromuscular patients. However, enzymatic tests are essential for the interpretation and validation of genetic results.

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“…A positive DBS test must be followed by a mutation analysis of the GAA gene or by an acid α-glucosidase activity assay in different tissues such as, for example, the skeletal muscle, fibroblasts or leucocytes. Before initiating enzyme replacement therapy, confirmation through both enzymatic and genetic testing should be performed 54. A negative DBS assay does not require further genetic analysis 43.…”

Section: Discussionmentioning

confidence: 99%

Selective screening of late-onset Pompe disease (LOPD) in patients with non-diagnostic muscle biopsies

2019

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AimsAs of 2016, there were five patients with Pompe in Slovenia (two infantile, one childhood and two adult onset) with a prevalence of 1:400 000; however, the prevalence of late-onset Pompe disease (LOPD) in some other countries means this ratio could be an underestimate. Since an LOPD muscle biopsy could be unspecific or even normal, the purpose of this study is to assess the prevalence of LOPD in patients with non-diagnostic muscle biopsies.MethodsSix hundred biopsies were recorded at the Neuromuscular Tissue Bank of the University of Ljubljana for the period 2004–2014. All adult patients with non-diagnostic muscle biopsies were invited to the National Slovenian Neuromuscular Centre for dried blood spot testing for LOPD.ResultsA total of 90 patients (56% of those invited) responded. No patient with LOPD was found. A total of 49 patients (54%) had fixed muscle weakness, 31 (34%) had mild symptoms and no weakness and 10 (11%) had asymptomatic hyperCKemia. Ventilatory insufficiency associated with proximal muscle weakness was found in two patients (2%). No patients exhibited vacuolar myopathy, globular accumulations of glycogen or regions of increased acid phosphatase activity within the sarcoplasm.ConclusionsThe study results do not support the hypothesis that LOPD is underestimated in Slovenian patients with non-diagnostic muscle biopsies; this could be consistent with the fact that LOPD is of low prevalence in Slovenia, as is the case in the populations of Finland, French-speaking Belgium, west Sweden and west Denmark.

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

Abstract: This is the first European consensus recommendation for starting and stopping ERT in adult patients with Pompe disease, based on the extensive experience of experts from different countries.

Cited by 132 publications

References 75 publications

Metabolic myopathies: a practical approach

Metabolic myopathies: a practical approach

Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease

Selective screening of late-onset Pompe disease (LOPD) in patients with non-diagnostic muscle biopsies

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