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Table 2 Follow-up data of 28 IOPD patients treated with ERT

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

Patient ID/gender CRIM Survival (A or D) Age last visit* Cause of death Asssisted ventilation (T or NIV or N) Artificial nutrition (G or NG or N) Motor achievements (none/HC/S/W) Hearing deficit/intelligible speech Heart normalization Contractures at last visit
1/M NA D 5 m 2 N N none na/na partially N
2/F NA D 6 m 3 N N none na/na partially N
3/F P(E) D 7 m 2 N N none na/na partially Y
4/M NA D 13 m 2 N N none na/na partially N
5/F Neg(E) D 15 m 3 N N none na/na Y N
6/F P(E) D 15 m 2 N N none na/na partially N
7/F Neg(E) D 18 m 2 N N none na/na partially N
8/F P(E) D 19 m 2 T N none na/na partially N
9/M Neg D 20 m 1 N N S N/N partially N
10/M Neg (E) D 5.0 1 T G none na/N partially Y
11/M P(E) D 6.8 1 N N W N/Y Y Y
12/M P(E) A 2.5   N N W N/Y Y N
13/M P A 3.0   T G None (previously S) Y/N partially N
14/F Neg A 2.5   NIV (2y) NG S Y/N partially N
15/F NA A 4.0   N N W N/Y Y Y
16/M Neg (E) A 4.0   T (3y) G None (previously S) N/N partially Y
17/M Neg(E) A 4,4   T G none N/N Y N
18/M P A 4.5   NIV N None (previously S) N/N Y N
19/M P(E) A 5,8   T (5y) G S N/N Y Y
20F P(E) A 6.5   T G HC (previously S) Y/N partially N
21/F P(E) A 6.0   T G S Y/N Y Y
22/F P(E) A 7.0   T G S N/Y Y Y
23/F P(E) A 7.0   N N W Y/Y Y N
24/F P(E) A 9.75   N N W Y/Y Y N
25/F P A 9. 16   T (7y) N S N/Y Y Y
26/F P(E) A 10.9   NIV (8.5 y) N S (previously W) N/Y Y Y
27/M P(E) A 11.5   N N W Y/Y Y Y
28/M P(E) A 11.5   T G none Y/N Y Y
  1. *years unless differently indicated; A alive, D dead, E: estimated on genotype [23], F female, G gastrostomy, HC head control, M : male, m months, N no, na not assessed, NA: not available, Neg: negative, NG nasogastric tube, NIV non invasive ventilation, P: positive,  S sitting independently, T tracheostomy, W walking independently, y:years, Y yes
  2. Cause of death: 1- cardiorespiratory failure, 2- ERT withdrawn after failure to respond, 3- infusion-related reactions prevented ERT delivery