scholarly journals Long-Term Interruption of Enzyme Replacement Therapy with rhGAA in Pompe Disease Leads to Irreversible Clinical Decline

2015 ◽  
Vol 2 (s1) ◽  
pp. S20-S20
Author(s):  
Thomas Hundsberger ◽  
Kai M. Rösler ◽  
Oliver Findling
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Pompe Disease ◽  
Enzyme Replacement

scholarly journals Pulmonary outcome measures in long‐term survivors of infantile Pompe disease on enzyme replacement therapy: A case series

2020 ◽  
Vol 55 (3) ◽  
pp. 674-681
Author(s):  
Mai K. ElMallah ◽  
Ankit K. Desai ◽  
Erica B. Nading ◽  
Stephanie DeArmey ◽  
Richard M. Kravitz ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Outcome Measures ◽  
Pompe Disease ◽  
Case Series ◽  
Enzyme Replacement ◽  
Infantile Pompe Disease ◽  
Long Term Survivors

Effect of long term enzyme replacement therapy in late onset Pompe disease: a single-centre experience

2020 ◽  
Author(s):  
George K. Papadimas ◽  
Christoforos Anagnostopoulos ◽  
Sophia Xirou ◽  
Helen Michelakakis ◽  
Gerasimos Terzis ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Pompe Disease ◽  
Late Onset ◽  
Single Centre ◽  
Enzyme Replacement ◽  
Single Centre Experience

scholarly journals Skeletal muscle pathology of infantile Pompe disease during long-term enzyme replacement therapy

2013 ◽  
Vol 8 (1) ◽  
pp. 90 ◽  
Author(s):  
Sean N Prater ◽  
Trusha T Patel ◽  
Anne F Buckley ◽  
Hanna Mandel ◽  
Eugene Vlodavski ◽  
...  
Keyword(s):  
Skeletal Muscle ◽  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Pompe Disease ◽  
Muscle Pathology ◽  
Enzyme Replacement ◽  
Infantile Pompe Disease

scholarly journals Long-term follow-up of 17 patients with childhood Pompe disease treated with enzyme replacement therapy

2018 ◽  
Vol 41 (6) ◽  
pp. 1205-1214 ◽  
Author(s):  
Jan C. van der Meijden ◽  
Michelle E. Kruijshaar ◽  
Laurike Harlaar ◽  
Dimitris Rizopoulos ◽  
Nadine A. M. E. van der Beek ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Pompe Disease ◽  
Enzyme Replacement ◽  
Long Term Follow Up

Long-term benefit of enzyme replacement therapy in Pompe disease

Neurology ◽  
2017 ◽  
Vol 89 (23) ◽  
pp. 2365-2373 ◽  
Author(s):  
Esther Kuperus ◽  
Michelle E. Kruijshaar ◽  
Stephan C.A. Wens ◽  
Juna M. de Vries ◽  
Marein M. Favejee ◽  
...  
Keyword(s):  
Muscle Strength ◽  
Enzyme Replacement Therapy ◽  
Pulmonary Function ◽  
Replacement Therapy ◽  
Pompe Disease ◽  
Daily Life ◽  
Enzyme Replacement ◽  
Daily Life Activities ◽  
Sum Score

Objective:To determine the effect of enzyme replacement therapy (ERT) after 5 years and to identify predictors for a favorable response because few data are available on the long-term efficacy of ERT in Pompe disease.Methods:We included 102 adult patients with Pompe disease in a nationwide, prospective cohort study. We assessed muscle strength (manual muscle testing with Medical Research Council [MRC] grading, handheld dynamometry [HHD]), muscle function (6-minute walk test, Quick Motor Function Test), daily life activities (Rasch-Built Pompe-Specific Activity [R-PAct] Scale), and pulmonary function (forced vital capacity [FVC] in upright and supine positions, maximum inspiratory and expiratory pressures) at 3- to 6-month intervals before and after the start of ERT. Data were analyzed with linear mixed-effects models for repeated measurements.Results:Median follow-up duration was 6.1 years (range 0.4–7.9 years), of which 5.0 years (range 0.2–7.3 years) were during ERT. Treated patients had better muscle strength (MRC sum score +6.6 percentage points [pp]; HHD sum score +9.6 pp, both p < 0.0001), activity levels (R-PAct +10.8 pp, p < 0.002), and pulmonary function (FVC upright +7.3 pp, FVC supine +7.6 pp, both p < 0.0003) than expected for their untreated disease course. Walking distance improved (416 vs 376 m at baseline, p = 0.03). The largest increase was seen during the first 2 to 3 years of treatment. Response to treatment was similar between groups regardless of sex, age, or disease duration.Conclusions:Long-term ERT positively affects muscle strength, pulmonary function, and daily life activities in adult patients with Pompe disease, with a peak effect at ≈2 to 3 years of treatment.Classification of evidence: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.

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