Table 1 Patient demographics and treatment details.

From: Transforming the clinical outcome in CRIM-negative infantile Pompe disease identified via newborn screening: the benefits of early treatment with enzyme replacement therapy and immune tolerance induction

Patient ID

Median age in weeks at ERT initiation (range)

ERT dose at Initiation (mg/kg)a

ERT dose at final assessment (mg/kg)a

Lifelong average dose

Alive or deceased at final assessment

Median age in months at final assessment (range)

Race/ethnicity

GAA pathogenic variants

Allele 1

Allele 2

Early treatment group (n = 5)

 E1

2.1 (0.3–3.4)

20 EOW

40 EOW

1.38

Alive

28.3 (9.3–51.8)

Hispanic

c.2560C>T

c.2560C>T

 E2

40 EOW

40 EOW

2.00

Alive

Caucasian/African American

c.525delT

c.2560C>T

 E3

20 EOW

40 EOW

1.57

Alive

Caucasian

c.1051delG

c.1579delA

 E4

20 EOW

40 EOW

1.04

Alive

Caucasian

c.525delT

c.525delT

 E5

20 EOW

40 W

1.75

Alive

Caucasian, Hispanic

c.1827C>G

c.2662G>T

Intermediate treatment group (n = 7)

 I1

7.6 (4.4–13.3)

20 EOW

40 EOW

1.32

Alive

83.4 (21.4–113.3)

Caucasian, Hispanic

c.525delT

c.1694_1697delTCTC

 I2

20 EOW

40 EOW

1.38

Alive

Caucasian/African American

c.525delT

c.2560C>T

 I3

20 EOW

40 W

2.29

Alive

African American/Hispanic

c.2560C>T

c.2560C>T

 I4

20 EOW

40 W

2.98

Alive

African American

c.1754+2T>A

c.1822C>T

 I5

20 EOW

40 EOW

1.39

Alive

Caucasian

c.236_246del

c.236_246del

 I6

20 EOW

40 W

1.17

Alive

Hispanic

c.2608C>T

c.2608C>T

 I7

20 EOW

30 W

2.05

Alive

Caucasian

c.258dupC

c.2227C>T

Late treatment group (n = 8)

 L1

17.9 (15.4–28.3)

20 EOW

N/A

N/A

Deceased

49.7 (15.0–135.5)

Caucasian

c.1548G>A

c.525delT

 L2

40 EOW

40 W

3.93

Alive

Caucasian/Native American/African American

c.2560C>T

c.525delT

 L3

20 EOW

40 EOW

1.25

Alive

Caucasian

c.340_341insT

c.340_341insT

 L4

20 EOW

20 EOW

1.00

Deceased

African American

c.2560C>T

c.2560C>T

 L5

20 EOW

40 EOW

1.86

Alive

Caucasian, Hispanic

c.1195-18_2190-20del

c.1195-18_2190-20del

 L6

20 EOW

20 EOW

1.00

Alive

African American

c.546+2T>C

c.546+2T>C

 L7

20 EOW

20 EOW

1.00

Alive

Caucasian/African American

c1548G>A

c2560C>T

 L8

20 EOW

20 EOW

1.00

Alive

Caucasian/Asian

c.2237G>A

c.437delT

  1. EOW every other week, ERT enzyme replacement therapy, F female, M male, N/A not available, W weekly.
  2. aFor consistency, ERT doses of 20 mg/kg weekly were considered the same as those who received 40 mg/kg every other week.
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