Table 1 Patients’ demographic, molecular and clinical features

Number of patients

2

6

9

6

2

25

Gender

male

2

1

3

2

1

9

female

0

5

6

4

1

16

Number of Adult patients (Age >16 years atstart of treatment)

0

1

2

6

0

9

Number of Pediatric patients (Age  ≤  16 years at start of treatment)

2

5

7

0

2

16

Age at diagnosis (years)

Mean (SD)

1.63 (1.37)

6.69 (4.22)

11.38 (2.55)

28.42 (8.55)

0.94 (0.51)

12.73 (10.69)

Range

0.66 - 2.60

0.25 - 10.6

7.70 - 16.00

18.00 - 43.83

0.58 - 1.30

0.25 - 43.83

Age at enrollment (years)

Mean (SD)

3.0 (0.06)

10 (4.18)

16 (3.12)

32 (8.89)

2.0 (0.53)

16 (11.72)

Range

2.66 - 2.75

3.10 - 15.66

10.3 - 19.60

18.83 - 43.83

2.33 - 1.58

1.58 - 43.83

Age at start of treatment (years)

Mean (SD)

1.83 (1.3)

9.53 (4.45)

15.31 (3.5)

31.93 (8.95)

1.09 (0.72)

15.69 (11.59)

Range

0.91 - 2.75

3.0 - 16.7

9.41 - 19.60

19.00 - 43.83

0.58 -1.60

0.58 - 43.83

Time between onset of first neurological manifestation and start of treatment (LAG) (years)

Mean (SD)

0.71 (0.66)

6.22 (4.23)

6.24 (4.26)

8.74 (3.84)

0

5.97 (4.49)

Range

0.66 - 0.75

1.00 - 12.70

0.41 - 11.83

3.00 - 13.80

0

(0–13.80)

Number of patients on miglustat treatment at enrollment

1

2

5

2

1

11

Duration of previous miglustat treatment at enrollment (months)

Mean (SD)

11.0 (14.85)

4.0 (7.27)

11.0 (13.0)

9.0 (12.60)

11.0 (15.56)

9.0 (11.13)

Range

0 - 21

0 - 18.0

0 - 31.0

0 - 23.0

0 - 22.0

6.0 - 31.0

Duration of miglustat treatment (months)

Mean (SD)

72.0 (33.94)

67.0 (12.5)

76.0 (16.7)

68.0 (22.34)

72.0 (16.97)

71.0 (22.11)

Range

48.0 - 96.0

48.0 - 84.0

54.0 - 96.0

48.0 - 96.0

60.0 - 84.0

48.0 - 96.0

Molecular analysis

NPC1 gene mutations (n. of patients)

1

6

9

5

2

23

NPC2 gene mutations (n. of patients)

1

0

0

1

0

2