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Table 1 Patients characteristics at baseline, overall and for two subgroups

From: Impact of imiglucerase supply constraint on the therapeutic management and course of disease in French patients with Gaucher disease type 1

 

Total (N = 99)*

Patients who discontinued imiglucerase for at least 3 consecutive months (N = 61)

Patients receiving a reduced 4-week imiglucerase dose for at least 3 consecutive months (N = 32)

 

n

Median (range) or n (%) patients

n

Median (range) or n (%) patients

n

Median (range) or n (%) patients

Gender

99

 

61

 

32

 

   Male

 

52 (52.5%)

 

32 (52.5%)

 

17 (53.1%)

   Female

 

47 (47.5%)

 

29 (47.5%)

 

15 (46.9%)

Age (years)

99

 

61

 

32

 

   At inclusion

 

47 (7; 84)

 

47 (22 ; 84)

 

30 (7; 71)

   At GD diagnosis

 

20 (1; 64)

 

23 (2; 61)

 

8.5 (1; 64)

Weight (kg)

85

66 (29; 105)

51

72 (45; 105)

28

60 (29; 92)

Genotyping performed

99

56 (56.6%)

61

35 (57.4%)

32

18 (56.3%)

   If yes, mutations:

56

 

35

 

18

 

   L444P/Other

 

2 (3.6%)

 

2 (5.7%)

 

-

   N370S/L444P

 

10 (17.9%)

 

10 (28.6%)

 

-

   N370S/N370S

 

8 (14.3%)

 

5 (14.3%)

 

2 (11.1%)

   N370S/Other

 

25 (44.6%)

 

10 (28.6%)

 

13 (72.2%)

   Other/Other

 

11 (19.6%)

 

8 (22.9%)

 

3 (16.7%)

Treated with alglucerase before 1996

99

23 (23.2%)

61

13 (21.3%)

32

8 (25.0%)

Hepatomegaly

98

30 (30.6%)

60

18 (30.0%)

32

9 (28.1%)

Splenectomy

99

30 (30.3%)

61

21 (34.4%)

32

7 (21.9%)

Splenomegaly in non-splenectomized patients

69

25 (36.2%)

40

13 (32.5%)

25

10 (40.0%)

Asthenia

99

30 (30.3%)

61

20 (32.8%)

32

7 (21.9%)

Other clinical manifestation(s)

99

15 (15.2%)

61

7 (11.5%)

32

6 (18.8%)

Concomitant disease

99

38 (38.4%)

61

25 (41.0%)

32

11 (34.4%)

Bone impairment

99

33 (33.3%)

61

22 (36.1%)

32

8 (25.0%)

Hemoglobin (g/L)

85

140 (104; 163)

52

143 (106; 163)

27

134 (104; 154)

Platelets (103/mm3)

86

182.5 (48; 478)

52

179.5 (48; 478)

28

185 (59; 415)

Ferritin (μg/L)

50

221 (16; 2310)

33

216 (16; 1150)

13

275 (29; 2310)

Chitotriosidase (nmol/mL/h)

64

730 (3; 16300)

38

234 (14; 16300)

20

1251 (3; 10170)

ACE (IU/L)

42

51.5 (10; 252)

26

42.5 (10; 252)

13

70 (19; 171)

  1. *6 patients are not reported in the subgroups: 2 patients could not be classified (no stable modification for at least 3 consecutive months) and 4 patients took only miglustat for at least 3 consecutive months.
  2. n: number of patients with available data.