Table 2 Review of literature elaborating previous studies with higher ERT dosing in Pompe disease.

From: Higher dosing of alglucosidase alfa improves outcomes in children with Pompe disease: a clinical study and review of the literature

Study

Study type, # of patients, doses

Results

Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease. Kishnani PS, Corzo D, Nicolino M, et al. (2007)5

Clinical trial, 18 patients total

9 patients: 20 mg/kg eow

9 patients: 40 mg/kg eow

40 mg/kg eow group cleared glycogen more effectively in muscle;

however, no clinically apparent difference seen between groups; higher dose group had CRIM negative patients and those who developed HSAT

Improvement of bilateral ptosis on higher dose enzyme replacement therapy in Pompe disease. Yanovitch TL, Casey R, Banugaria SG, Kishnani PS. (2010)35

Case report

Dose was increased from 20 mg/kg eow to 40 mg/kg eow

17 year nonclassic IPD patient showed improvement in muscle function and partial resolution of ptosis when dose was increased

Safety and efficacy of alternative alglucosidase alfa regimens in Pompe disease. Case LE, Bjartmar C, Morgan C, et al. (2015)16

Randomized open-label study

11 CRIM positive patients (4 LOPD, 7 IPD)

2 doses: 20 mg/kg weekly or 40 mg/kg eow

Improvement in GMFM, no difference in Pompe–PEDI score or manual muscle testing

Effects of a higher dose of alglucosidase alfa on ventilator-free survival and motor outcome in classic infantile Pompe disease: an open-label single-center study. van Gelder CM, Poelman E, Plug I, et al. (2016)19

8 CRIM positive IPD patients

4 patients: 20 mg/kg eow

4 patients: 40 mg/kg weekly

1 patient in low dose group was ventilation dependent at end of study (none in high dose group)

3/4 patients on low dose had repeated respiratory infections (no infections in high dose group)

LVMI was normal in 3/4 of low dose group, all in high dose group had normal LVMI

Walking at study end: 2/4 in low dose, all in high dose

Pompe disease treatment with twice a week high dose alglucoside alfa in a patient with severe dilated cardiomyopathy. Landis JL, Hyland H, Kindel SJ, Punnoose A, Geddes GC. (2018)20

Case report

Dose: 40 mg/kg twice a week

Cardiac status of CRIM positive IPD patient showed drastic improvements in left ventricular ejection fraction, LVMI, and left ventricular dilation

Recombinant human α-glucosidase from rabbit milk in Pompe patients

Van den Hout, H Reuser, A Vulto A et al. (2000)34, a

Open-label pilot study, 4 patients total

2 patients (over 6.5 kg): 15 mg/kg weekly

2 patients (under 6.5 kg): 20 mg/kg weekly

Eventually all on 40 mg/kg weekly

36 weeks after therapy: lysosomal glycogen content decreased, skeletal muscle glycogen did not significantly decrease, decline in LVMI in all patients, stabilization of clinical condition

  1. CHO Chinese hamster ovary, CRIM cross-reactive immune material, eow every other week, ERT enzyme replacement therapy, GMFM gross motor function measure, HSAT high and sustained antibody titers, IPD infantile-onset Pompe disease, LOPD late-onset Pompe disease, LVMI left ventricular mass index, PEDI Pediatric Evaluation of Disability Index.
  2. aThis study used transgenic enzyme from rabbit milk (rest are from Chinese hamster ovary cell line).
Back to article page