Table 1.

Patient demographics and clinical characteristics

Characteristic	Pre-test				Main analysis
	GD1 (N = 3)	GD2 (N = 6)	GD3 (N = 7)	Overall (N = 16)	GD1 (N = 9)	GD2 (N = 13)	GD3 (N = 11)	Overall (N = 33)
Sex, n (%)
Male	1 (33.3)	2 (33.3)	3 (42.9)	6 (37.5)	2 (22.2)	8 (61.5)	6 (54.5)	16 (48.5)
Female	2 (66.7)	4 (66.7)	3 (42.9)	9 (56.3)	7 (77.8)	5 (38.5)	5 (45.5)	17 (51.5)
Not collected	0 (0)	0 (0)	1 (14.3)	1 (6.3)	0 (0)	0 (0)	0 (0)	0 (0)
Age at diagnosis, years
Mean (SD)	4.3 (1.5)	1.0 (0.5)	6.6 (6.6)	4.1 (5.0)	23.4 (16.9)	0.6 (0.7)	8.1 (7.5)	9.3 (13.3)
Median (min, max)	4.0 (3.0, 6.0)	1.0 (0.2, 1.5)	3.0 (1.0, 18.0)	1.8 (0.2, 18.0)	24.0 (2.0, 60.0)	1.0 (0, 2.0)	5.0 (1.0, 24.0)	3.0 (0, 60.0)
Current age, years
Mean (SD)	46.3 (3.5)	9.0 (7.9)	28.4 (18.1)	24.5 (18.8)	58.6 (18.5)	10.0 (8.2)	37.1 (16.9)	32.3 (24.6)
Median (min, max)	46.0 (43.0, 50.0)	7.5 (2.0, 23.0)	32.0 (4.0, 57.0)	23.5 (2.0, 57.0)	63.0 (25.0, 89.0)	9.0 (1.0, 31.0)	38.0 (10.0, 58.0)	31.0 (1.0, 89.0)
Duration of GD, years
Mean (SD)	42.0 (2.0)	8.1 (7.9)	21.9 (13.2)	20.5 (15.7)	56.6 (27.0)	9.6 (8.1)	34.6 (17.9)	25.5 (23.2)
Median (min, max)	42.0 (40.0, 44.0)	7.0 (0.7, 22.0)	23.0 (2.3, 39.0)	22.5 (0.7, 44.0)	56.2 (25.0, 88.8)	8.8 (0.7, 30.1)	35.2 (9.8, 57.3)	16.7 (0.7, 88.8)
Not collected, n (%)	0 (0)	0 (0)	0 (0)	0 (0)	5 (55.6)	0 (0)	2 (18.2)	7 (21.2)
Respondent, n (%)
Self	3 (100)	0 (0)	4 (57.1)	7 (43.8)	9 (100)	0 (0)	8 (72.7)	17 (51.5)
Proxy	0 (0)	6 (100)	3 (42.9)	9 (56.3)	0 (0)	13 (100)	3 (27.3)	16 (48.5)
Father	–	–	–	–	0 (0)	2 (15.4)	0 (0)	2 (6.1)
Mother	–	–	–	–	0 (0)	11 (84.6)	3 (27.3)	14 (42.4)

GD1/2/3: type 1/2/3 Gaucher disease; max: maximum; min: minimum; SD: standard deviation