OnlineSupplementalTable S3. Characteristics of patients with high-sustained anti-rhGAA IgG antibody titers (definedas ≥25,600 and remaining within a 2-fold dilution titer at the final measurement)
Disease state / IgG titer trajectory / Genotype / CRIM status predicted from genotype / SAEs / IARs / Efficacy outcomes1. Cardiac LOPD / 1600 (Week −2);
3200 (Weeks 4–24);
6400 (Weeks 28–36; 44, 52–56);
12,800 (Weeks 40, 48, 60–68, 90);
25,600 (Weeks 80, 104);
51,200(Week 120) / c.670C>T / c.2331+2T>A(p.Arg224Trp /r.spl) / Positive / N/A / N/A / Stable (LVM-Z BL −1.58, +0.85 at Week 52; GMFM-88 BL 70.9, +8.2 at Week 26, +14.4 at Week 52)
2. Non-cardiac LOPD / 6400 (Weeks 0–8, 15, 21, 49, 94); 12,800 (Weeks 12, 53, 104–130); 3200 (Weeks 24-41);
1600 (Week 45);
25,600 (Weeks 66 and 80) / c.-32-13T>G / c.-32-13T>G
(r.spl / r.spl) / Positive / Chest pain, dyspnea, hyperhidrosis, sinus tachycardia, and
urinary tract infection / Headache / Stable (LVM-Z BL −3.31, +0.98 at Week 26 and -0.28 at Week 52; GMFM-88 BL 100, no change at Weeks 26 or 52; FVC BL 107, -6 at Week 26 and +1 at Week 52)
3. IOPD / 12800 (Weeks −1, 3, 32, 60, 112);
6400 (Weeks 8, 14, 20–28, 44–56, 64, 82, 95, 107);
3200 (Weeks 12, 16, 36–39, 68–78, 86–92, 98-102);
25,600 (Weeks 117–121);
51,200 (Week 126) / c.1195-18_2190-20del / c.1195-18_2190-20del(homozygous for deleted exons 8–13).
(p.Asp399Val fs*6 / p.Asp399Val fs*6) / Negative / Oxygen saturation decreased (2 events), abdominal pain (also IAR),
tracheitis, cholecystitis acute, dehydration, diarrhea (also IAR), dyspnea, intussusception, pyrexia, and
respiratory failure / Flushing (3 events), urticaria (3 events), dyspnea
(2 events), diarrhea, heart rate increased, macule, respiratory distress, tachycardia, and wheezing / Stable (GMFM-88 BL 4.7, −1.2 at Week 26 and −2.3 at Week 52)
Patient had received prophylactic immunomodulation during a prior 160 rhGAA study.
Patient excluded from per-protocol population due to temporary 160L rhGAA use during the study
4. IOPD / 25,600 (Weeks 1 and 48);
51200 (Weeks 4–30, 36, 52, 78, 92);
102400 (Weeks 32, 40, 44, 64, 104, 118, and 130) / c.1650dupG / c.2560C>T (p.Thr551fs*85 / p.Arg854*) / Negative / Atelectasis, pneumonia, bradycardia, chest pain, cough,
hypotension, left ventricular hypertrophy / None / Declined (invasive-ventilator-dependence 6 days after first 4000L rhGAA; LVM-Z BL 2.06, +1.78 at week 26 and −0.42 at week 52; GMFM-88 BL 19.8, −14.4 at weeks 26 and 52)
5. IOPD / 102,400 (Week −1);
6400 (Week 3);
51,200 (Weeks 6, 9) / c.925G>A / c.925G>A(p.Gly309Arg / p.Gly309Arg) / Positive/ unclear / Feeding tube complication, respiratory distress (2 events),
pyrexia, cardio-respiratory arrest / Hypertension, tachycardia,
pyrexia (2 events), body temperature increased, and tachycardia / Declined at week 26; no week 52 data (invasive ventilator dependence 14 days after first 4000L rhGAA; LVM-Z BL 5.27 +0.44 at week 26; GMFM-88 BL 1.2; −0.8 at week 26)