Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C

Table 3 Miglustat therapy and neurological evolution during follow up

Patient	Age at onset of neurological manifestations	Age at start of miglustat therapy	Miglustat dose (mg/day)	Duration of miglustat therapy	Disease evolution*
Perinatal visceral
#1	2 months	2 months	50	2 months	NA^†
Early infantile
#2	5 months	9 months	100–150-100	22 months	Initially improved then worsened
#3	6 months	2 years 1 month	200	18 months	Worsened
#4	7 months	2 years 3 months	150–300–150	27 months	Worsened
#5	9 months	20 months	200	13 months	Worsened^†
#6	9 months	3 years 7 months	200–300–150	18 months	Stabilized
#7	10 months	2 years 2 months	200–150–200	12 months	Worsened
#8	12 months	2 years	50–100	12 months	Worsened
#9	12 months	2 years	100–200	8 months	Worsened
Late infantile
#10	2 years	4 years	250	60 months	Stabilized
#11	3 years	8 years	100–300	12 months	Improved
#12	3 years	12 years 7 months	600–400	12 months	Worsened^†
#13	4 years 6 months	8 years	400	9 months	Worsened^Ŧ
#14	5 years	6 years	150–250	36 months	Worsened transiently then stabilized
#15	5 years	7 years 9 months	200–300	12 months	Stabilized^Ŧ
#16	5 years	9 years 10 months	400–200–400	9 months	Worsened transiently then improved
#17	5 years	10 years 3 months	300	12 months	Improved
Juvenile
#18	5–6 years	7 years	300	12 months	Worsened^Ŧ
#19	5–6 years	9 years 9 months	400	7 months	Worsened then stable
#20	6–8 years	14 years 9 months	600	30 months	Improved then stable

^†Patient 1 died aged 4 months, patient 5 died aged 2 years and 9 months, and patient 12 died aged 13 years 11 months; *disease evolution based on NP-C disability scale[11]and global clinical judgment; NA: not applicable due to young age^Ŧmiglustat treatment was stopped in patient #’s 13, 15 and 18 after 9, 12 and 12 months, respectively.

ISSN: 1750-1172