Long-term benefit of enzyme replacement therapy in Pompe disease

Kuperus, Esther; Kruijshaar, Michelle E.; Wens, S.C.A.; Vries, Juna M. de; Favejee, Marein M.; Meijden, Jan C. van der; Rizopoulos, Dimitris; Brusse, Esther; Doorn, Pieter A. van; Ploeg, Ans T. van der; Beek, Nadine A.M.E. van der

doi:10.1212/wnl.0000000000004711

Cited by 96 publications

(125 citation statements)

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“…Longitudinal analyses of 6MWT, MRC sum score, QMT leg score, FVC upright, FVC supine, MIP, and MEP were performed with linear mixed models to account for correlations in the repeated measurements per patient, as reported previously. 8 The current analyses include between 503 and 604 measurements per outcome measure. Measurements performed after cessation of ERT treatment were excluded.…”

Section: Group Levelmentioning

confidence: 99%

“…Several longitudinal studies up to a median of 5 years of ERT treatment showed that treated patients had improved ambulatory function and muscle strength, stabilization of pulmonary function, and increased survival. [5][6][7][8][9][10] However, recent studies show that the effect of ERT seems to peak at 2 to 3 years of treatment and is followed by a plateau or secondary decline. Because no studies with follow-up >5 years are available, it is unknown if this plateau is maintained or whether a further, more rapid, decline follows.…”

mentioning

confidence: 99%

“…Furthermore, several studies have reported substantial individual differences in treatment benefit. 6,8,9 A better understanding of such differences could help to predict individual treatment response and to guide decisions about starting and stopping ERT.…”

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confidence: 99%

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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: Group Levelmentioning

confidence: 99%

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confidence: 99%

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

Harlaar¹,

Hogrel

Perniconi

et al. 2019

Neurology

Self Cite

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“…Numerous studies in children and adults have shown improvement of muscle strength, stabilization of pulmonary function, decreased fatigue, and extended survival. However, there is variation in response and not all patients respond equally well (Broomfield et al, 2016;de Vries et al, 2012;Gungor et al, 2016;Hahn et al, 2018;Kuperus et al, 2017;Papadopoulos et al, 2017;Regnery et al, 2012;Stepien, Whitby, Roberts, & Sharma, 2015;Strothotte et al, 2010;van Capelle et al, 2010;.…”

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confidence: 99%

Extension of the Pompe mutation database by linking disease‐associated variants to clinical severity

et al. 2019

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Pompe disease is an autosomal recessive lysosomal storage disorder caused by disease‐associated variants in the acid alpha‐glucosidase (GAA) gene. The current Pompe mutation database provides a severity rating of GAA variants based on in silico predictions and expression studies. Here, we extended the database with clinical information of reported phenotypes. We added additional in silico predictions for effects on splicing and protein function and for cross reactive immunologic material (CRIM) status, minor allele frequencies, and molecular analyses. We analyzed 867 patients and 562 GAA variants. Based on their combination with a GAA null allele (i.e., complete deficiency of GAA enzyme activity), 49% of the 422 disease‐associated variants could be linked to classic infantile, childhood, or adult phenotypes. Predictions and immunoblot analyses identified 131 CRIM negative and 216 CRIM positive variants. While disease‐associated missense variants were found throughout the GAA protein, they were enriched up to seven‐fold in the catalytic site. Fifteen percent of disease‐associated missense variants were predicted to affect splicing. This should be confirmed using splicing assays. Inclusion of clinical severity rating in the Pompe mutation database provides an invaluable tool for diagnosis, prognosis of disease progression, treatment regimens, and the future development of personalized medicine for Pompe disease.

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“…However, at present, screening for Pompe disease seems overall to be beneficial for early-onset disease when treatment is started extremely early. Benefits are recorded for the more common late-onset disease also, but so far there is no clear evidence supporting very early diagnosis of late-onset cases [15].…”

Section: Newborn Screening For Pompe Disease (Glycogen Storage Diseasmentioning

confidence: 99%

Newborn Screening for Lysosomal Disease: Mission Creep and a Taste of Things to Come?

Wilcken

2018

IJNS

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Newborn screening for several lysosomal disorders can now be accomplished successfully for case finding. However, many cases identified do not require immediate intervention and it is not yet clear, for some disorders, if there is a benefit in early diagnosis for those cases, or what should be called a benefit. Diagnosing adult-onset cases, especially when there are quite imperfect genotype-phenotype correlations, represents a significant expansion of what has heretofore been considered the aim of newborn screening. This mission creep should be carefully discussed, and certain aspects of newborn screening strengthened. We should all proceed with caution in this field.

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Long-term benefit of enzyme replacement therapy in Pompe disease

Abstract: This study provides Class IV evidence that for patients with Pompe disease, long-term ERT positively affects muscle strength, pulmonary function, and daily life activities.

Cited by 96 publications

References 35 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

Extension of the Pompe mutation database by linking disease‐associated variants to clinical severity

Newborn Screening for Lysosomal Disease: Mission Creep and a Taste of Things to Come?

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