Reporting preclinical gene therapy studies in the field of Niemann-Pick type C disease according to the ARRIVE guidelines

Table 1 Overview of the included studies

Mouse model	Vector	Promoter	Dosage per mouse	Route of administration	Age at treatment	Effect		Reference
Mouse model	Vector	Promoter	Dosage per mouse	Route of administration	Age at treatment	CNS	P	Reference
Viral gene therapy
Npc1^nih/nih Npc1^nmf164	AAV9	GAPDH PGK NPC1 CBA hSYN1 SYN-S SYN-D CAG	1.5 × 10¹¹ vg	Intracerebroventricular injection	PN 0–1	+	n.a.	[16]
BALB/cNctr-Npc1^m1N/J	AAV9 and AAV-PHP.B	EF1α	1.84 × 10¹² vg AAV9 1.43 × 10¹² vg AAV-PHP.B	Retro-orbital injection	PN 24–27	+	+	[11]
FVB.C-Npc1^m1N/J	AAV9/3	CMV	1.35 × 10¹¹ vg	Intracerebroventricular and intracisternal injections	PN 4–5	+	+	[12]
BALB/cNctr-Npc1^m1N/J	AAV9	hSYN1	4.6 × 10⁹ vg or 2.5 × 10¹¹ vg	Bilateral intra-cerebroventricular injections	PN 0–1	+	−	[15]
Npc2^tm1Plob	AAVrh.10	CAG	10¹¹ vg	Intracisternal injection	6 weeks	+	+	[14]
BALB/cNctr-Npc1^m1N/J	AAV9	CMV	2.5 × 10¹¹ vg	Intracardiac injection	PN 4	+	+	[13]
BALB/cNctr-Npc1^m1N/J	AAV9	CamKII or EF1α	2.6 × 10¹¹ vg (neonates) 1.3 × 10¹² vg (juvenile)	Retro-orbital injection	PN 1–3 PN 20–25	+	+	[10]
Non-viral gene therapy
BALB/cNctr-Npc1^m1N/J	TfRMAb targeted THLs	PDGFB	6 µg plasmid DNA and 15 µg TfRMAb	Tail-vein injection	6–7 weeks	−	+	[22]

AAV Adeno-associated virus, GAPDH glyceraldehyde-3-phosphate dehydrogenase, PGK phosphoglycerate kinase, NPC1 small, truncated version of the endogenous human NPC1 promoter, CBA chicken β-actin, hSYN1 human synapsin 1, SYN-D neuron de-targeted synapsin-1, SYN-S shortened synapsin-1, CAG chicken β-actin promoter with CMV enhancer, EF1α: elongation factor 1α, CMV cytomegalovirus, CamKII: calcium/calmodulin-dependent protein kinase II, TfrMAb targeted THLs Transferrin receptor-specific monoclonal antibody conjugated to THLs Trojan horse liposomes, PDGFB human platelet-derived growth factor B, vg viral genomes, PN postnatal day, CNS central nervous system, P peripheral, n.a. not assessed

ISSN: 1750-1172