2017
DOI: 10.1111/ene.13285
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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.

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Cited by 130 publications
(128 citation statements)
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References 75 publications
(104 reference statements)
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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%
“…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%
“…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%
“…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%