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Table 1 Patient Characteristics

From: Effects of immunomodulation in classic infantile Pompe patients with high antibody titers

  Patient 1 Patient 2a Patient 3
Baseline and initial response
 Age at start (in months) 2.4 5.8 1.9
 Mutations c.2481 + 102_2646 + 31del538 c.del525T c.del525T
c.2481 + 102_2646 + 31del538 c.del525T c.del525T
 CRIM status Positive Negative Negative
 Ventilatory support No No No
 LVMI at start in g/m2 (z-score) 237 (22.5) 265 (26.1) 200 (17.8)
 Time to LVMI normalization (z-score) 9 months (1.75) 6 months (1.43) 9 months (0.1)
 Age pull to stand (in months) 11.6 14.8 9.2
 Age walking (in months) 15 21.3 11.7
 NGT at start No Yes Yes
 Age at which NGT ended (in months) N.A 21 9
 Total number of IARs (total severe IARs) 70 (6) 22 (5) 16 (0)
 Age at last IAR (in years) 4.0 3.5 2.1
At start of secondary immunomodulation
 Age in years 6.6 3.5 2.3
 Ventilatory support No No No
 LVMI in g/m2 (z-score) 70.6 (0.4) 63.2 (0.5) 83.9 (3.1)
 Best motor function Sitting Walking Walking
 Antibody titer 1:156,250 1:156,250 1:781,250
 Enzyme activity in cell lysates 50% 60% 100%
At study end
 Age in years 9.1 5.6 3.8
 Ventilatory support No No No
 LVMI in g/m2 (z-score) 82.5 (1.3) 65 (0.7) 55 (−0.5)
 Best motor function Sitting Walking Walking
 NGT/PEG (age in years) Yes (7.0) No No
 Last antibody titer (time since last RTX in years) 1:31,250 (0.5) 1:31,250 (2) 1:1561,250 (1.5)
 Enzyme activity in cell lysates 100% 100% 100%
 B-cell normalization/time since last RTX in months Yes/14
No/5c
Yes/6 Yes/3
 Last B-cell levelb 0 0.85*109/L 0.48*109/L
 IARs since start of immunomodulation No No No
  1. CRIM cross-reactive immunologic material, LVMI left ventricular mass index, NGT nasogastric tube, IAR infusion-associated reaction, PEG percutaneous endoscopic gastrostomy tube, RTX Rituximab
  2. aPatient 2 initially received immunomodulation in an ERT naïve setting.
  3. bB- cell normal range; for age 2–5 years normal range of 0.2–2.1*10E9, for age 5–10 years normal range of 0.2–1.6*10E9
  4. cAfter an initial round of immunomodulation patient 2 received a second round of immunomodulation 2 years later because of high rhGAA antibodies