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Table 1 Genotypes, cross reactive immunological material (CRIM) status, ages of onset of symptoms, diagnosis and starting ERT, immunological data, Infusion associated reactions and ERT dosing of the 28 Pompe patients

From: Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy

Patient ID/gender Genotype Predicted mutations severitya CRIM Age of onset signs and symptomsb Age diagnosisb Age starting ERTb Anti-rh GGA antibodies maximum titer Immunomodulation Severe IAR ERT present or last dosing
1/M NA – NA 1 1 2 NA No No 1
2/F NA – NA 2 4 4 NA No Yes 1
3/F c.[1833_1839del;1846G > T; 1847_1848insT]; [c1124G > T] Very severe/potentially less severe P(E) 1 5 5 NA No No 1
4/M NA – NA 3 4 4 NA No No 1
5/F c.[236_246 del];. [236_246 del] Very severe Neg (E) 1 1 2 1:25.600 No Yes 1
6/F c.[742delC];[c.896 T > C] Very severe/potentially less severe P(E) 4 6 10 NA No No 1
7/F c.[2481 + 102_2646 + 31del]; [2481 + 102_2646 + 31del] Very severe Neg(E) 6 8 8 NA No No 1
8/F c.[525delT];[c.670C > T] Very severe/potentially less severe P(E) 1 9 10 NA No No 1
9/M c.[1497G > A];[1497G > A] Very severe Neg birth 5 days 1 1:102.400 No No 1
10/M c.[1833_1839del;1846G > T; 1847_1848insT]; [1833_1839del;1846G > T; 1847_1848insT] Very severe Neg (E) 2 7 7 1:25.600 Yes 14 m [7] Yes 1
11/M c.[1942G > A]; [2646 + 2 T > A] Potentially less severe/very severe P(E) birth 12 days 19 days NA No No 1
12/M c.[236_246del]; [1655 T > C] Very severe/potentially less severe P(E) 2 3 4 NA No Yes 1
13/F c.[236_246del];[1927G > A] Very severe/potentially less severe P 6 11 11 NA No No 5c
14/M c.[236-246del]; [236-246del] Very severe Neg 4 4 4 1:204.800 Yes prophylactic and later 1 cycle therapeutic [8] Yes 1
15/F c.[955 + 1G > A]; [1438-2A > G] Unknown/very severe NA birth 5 days 8 days ≤ 1:400 No No 1
16/M c.[525delT]; [2237G > A] Very severe Neg (E) birth 3 4 1:102.400 Yes 4 cycles at 1–2–3-4 years [8] Yes 6c
17/M c.[1A > G];[1A > G] Very severe Neg(E) 2 6 6 ________NA No No 1
18/M c.[784G > A]; [784G > A] Potentially less severe P 1 1.5 4 ≤ 1:400 No No 4c
19/M c.[1802C > G]; [2800-1G > C] Potentially less severe/unknown P(E) 10 days 3 3 ≤ 1:400 No No 2c
20/F c.[1564C > G];[1564C > G] Potentially less severe P(E) 4 4 5 1:1.600 No No 1
21/F c.[930_932delGTT];[1927G > A] Unknown/ Potentially less severe P(E) birth 19 days 1 NA No Yes 7 c
22/F c. [1927G > A];[1927G > A] Potentially less severe P(E) 4 4 5 NA No No 1
23/F c.[1933 G > A];[1933 G > A] Potentially less severe P(E) birth 1 1 NA No No 1
24/F c.[1933G > A]; [1564C > G] Potentially less severe/potentially less severe P(E) 2 3 4 NA No No 1
25/F c.[784G > A]; [1822C > T] Potentially less severe/very severe P 2 3 4 ≤ 1:400 No No 2c
26/F c.[1064 T > C]; [2041-2A > C] Potentially less severe/very severe P(E) 3 5 8 ≤ 1:400 No No 3c
27/M c.[1465G > A];[40_47del8] potentially less severe/unknown P(E) birth 3 4 ≤ 1:400 No No 2d
28/M c.[2237G > A];[1655 T > C] Very severe/potentially less severe P(E) 2 4 9 1:3200 No Yes 2d
  1. aAs reported in https://www.erasmusmc.nl/klinische_genetica/research/lijnen/pompe_center E = estimated on genotype [23]; ERT dosing: 1 = 20 mg/kg/14 days, 2 = 40 mg/kg/14 days, 3 = 20 mg/kg/10 days, 4 = 40 mg /kg/10 days, 5 = 20 mg/kg/7 days, 6 = 40 mg /kg/7 days, 7 = 15 mg/kg/7 days; F female; IAR infusion associated reaction; M male; N negative; NA not available; P positive
  2. bmonths, unless differently indicated
  3. cPatients in whom the dosage of ERT was modified in course of follow up due to poor clinical outcome or to infusion associated reactions. Dosing at the beginning of ERT = 20 mg/kg/14 days
  4. d dosage of ERT received from the beginning of treatment
  5. E = estimated on genotype [23]; ERT dosing: 1 = 20 mg/kg/14 days, 2 = 40 mg/kg/14 days, 3 = 20 mg/kg/10 days, 4 = 40mg /kg/10 days, 5 = 20 mg/kg/7 days, 6 = 40mg /kg/7 days, 7 = 15 mg/kg/7 days; F = female; IAR = Infusion Associated Reaction; M = male; N = negative; NA = not available
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172