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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 Cause of death: 1- cardiorespiratory failure, 2- ERT withdrawn after failure to respond, 3- infusion-related reactions prevented ERT delivery
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172