An observational study to investigate the relationship between plasma glucosylsphingosine (lyso-Gb1) concentration and treatment outcomes of patients with Gaucher disease in Japan

Table 1 Patient demographic and baseline characteristics

Characteristics	N = 20
Age, years^a
Median (min–max)	14.0 (2–74)
Sex, n (%)
Male	11 (55.0)
Female	9 (45.0)
Onset of disease, years^b
Median (min–max)	2.0 (1–70)
Duration of disease, years^b
Median (min–max)	9.0 (1–50)
Disease type, n (%)
Type 1	8 (40.0)
Type 2	9 (45.0)
Type 3	3 (15.0)
Treatment history, n (%)^c
Enzyme replacement therapy	20 (100.0)
Bone marrow transplantation	0 (0)
Substrate reduction therapy	1 (5.0)
Chemical chaperone therapy	5 (25.0)
Others	1 (5.0)
Duration of velaglucerase alfa treatment, months
Mean (SD)	49.6 (28.7)
Median (min–max)	49.5 (3–107)
Concomitant ambroxol use, n (%)	5 (25.0)
GBA gene mutation, n (%)
L444P mutation	13 (65.0)
F213I mutation	2 (10.0)
D4409H mutation	2 (10.0)
R463C mutation	0 (0)
Other	3 (15.0)
GBA genotype, n (%)
L444P/L444P	3 (15.0)
L444P/others	10 (50.0)
Other genotype	7 (35.0)
Presence of comorbidity, n (%)	12 (60.0)
Complications, n (%)
Neurologic symptoms	13 (65.0)
Bone symptoms	5 (25.0)
Other	15 (75.0)

^aAge at the time of enrollment
^bOnset of disease was calculated as the time between date of birth (year) and date of diagnosis (year); duration of disease was calculated as the time between date of diagnosis (year) and date of informed consent acquisition (year)
^cPatients could have received multiple treatments
GBA, β-glucocerebrosidase gene; max, maximum; min, minimum; SD, standard deviation

ISSN: 1750-1172