Table 2. Participants’ characteristics.

Author [year]	N	Sex (F/M)	Age [SD] (years)	Age range (years)	Gene mutation	Onset of symptoms (age)	Study group
Patterson [1993]	5	−	−	−	−	−	Intervention
	5	−	−	−	−	−	Intervention
	5	−	−	−	−	−	Intervention
	5	−	−	−	−	−	Intervention
	5	−	−	−	−	−	Intervention
Patterson [2007]	20	11/9	25 [9]	12-42	−	Juvenile/adulthood	Intervention
	9	4/5	22 [7]	13-32	−	Juvenile/adulthood	Control
	12	7/5	7 [2]	4-11	−	Neonatal/early childhood, late childhood	Intervention
Patterson [2010]	12	7/5*	7 [2]*	4-11*	−	Neonatal/early childhood, late childhood	Intervention
	10	7/5*	7 [2]*	4-11*	−	Neonatal/early childhood, late childhood	Follow-up
	10	7/5*	7 [2]*	4-11*	−	Neonatal/early childhood, late childhood	Follow-up
Pineda [2010]	5	3/2	−	<6	NPC1	Neonatal/early childhood	Intervention
	4	2/2	−	6-11	NPC1	Late childhood	Intervention
	7	2/5	−	>12	NPC1	Juvenile/adulthood	Intervention
	1	1/0	8		−	Asymptomatic	Control
Wraith [2010]	20	15/14*	24 [9]*	12-42*	−	Juvenile/adulthood	Intervention
	9	15/14*	24 [9]*	12-42*	−	Juvenile/adulthood	Control
	17	15/14*	24 [9]*	12-42*	−	Juvenile/adulthood	Follow-up
	8	15/14*	24 [9]*	12-42*	−	Juvenile/adulthood	Follow-up
	16	15/14*	25 [9]*	12-42*	−	Juvenile/adulthood	Follow-up
Héron [2012]	1	1/0	2 months	12-18*	NPC2	Neonatal/early childhood	Intervention
	8	5/3	<6	12-18*	NPC1	Neonatal/early childhood	Intervention
	8	3/5	6-11	12-18*	NPC1	Late childhood	Intervention
	3	2/1	>12	12-18*	NPC1	Juvenile/adulthood	Intervention
Fecarotta [2015]	2	0/2	1 [1]	<1 to 2	NPC1/NPC2	Early infantile	Intervention
	6	5/1	6 [4]	3-15	NPC1	Late infantile	Intervention
	9	6/3	11 [2]	10-19	NPC1	Juvenile	Intervention
	6	4/2	28 [8]	18-43	NPC1/NPC2	Adult	Intervention

*, values for the total sample; −, not available data.