. Author manuscript; available in PMC: 2019 Dec 23.

Published in final edited form as: Nat Rev Drug Discov. 2019 May;18(5):358–378. doi: 10.1038/s41573-019-0012-9

Table 1 |.

A selection of ongoing rAAv interventional clinical trials

Primary gene delivery target	condition	AAv capsid	Transgene product	strategy	sponsor	Phase
Brain	AADC deficiency	AAV2	AADC	Replacement	Krystof Bankiewicz, UCSF	Phase I
	AADC deficiency	AAV2	AADC	Replacement	National Taiwan University Hospital	Phase II
	Batten disease (CLN2)	AAVrh.10	CLN2	Replacement	Weill Cornell	Phase I/II
	Batten disease (CLN6)	AAV9	CLN6	Replacement	Nationwide Children’s Hospital	Phase I/II
	MPS-IIIB	AAV5	NAGLU	Replacement	uniQure	Phase I/II
	Parkinson disease	AAV2	AADC	Addition	Jichi Medical University	Phase I/II
		AAV2	GDNF	Addition	NINDS	Phase I
		AAV2	Neurturin	Addition	Sangamo	Phase I/II
		AAV2	AADC	Addition	Voyager	Phase I
Spinal cord	SMA	AAV9	SMN	Replacement	AveXis	Phase III
	Giant axonal neuropathy	AAV9	GAN	Replacement	NINDS	Phase I
Eye	Achromatopsia	AAV2	CNGB3	Replacement	AGTC	Phase I/II
	Achromatopsia	AAV8	CNGB3	Replacement	MeiraGTx	Phase I/II
	Choroideraemia	AAV2	REP1	Replacement	Nightstar	Phase III
		AAV2	REP1	Replacement	Spark	Phase I/II
		AAV2	REP1	Replacement	STZ eyetrial	Phase II
		AAV2	REP1	Replacement	University of Oxford	Phase II
	LCA	AAV2	RPE65	Replacement	Spark	Phase III
	LCA	AAV5	RPE65	Replacement	MeiraGTx	Phase I/II
	LHON	AAV2	ND4	Replacement	GenSight	Phase III
	LHON	AAV2	ND4	Replacement	John Guy, University of Miami	Phase I
	RP (RLBP1)	AAV8	RLBP1	Replacement	Novartis	Phase I/II
	Wet AMD	AAV8	Anti-VEGF antibody	Silencing (mAb)	Regenxbio	Phase I
	X-linked RP	AAV2	RPGR	Replacement	AGTC	Phase I/II
		AAV2	RPGR	Replacement	MeiraGTx	Phase I/II
		ND	RPGR	Replacement	Nightstar	Phase I/II
	X-linked retinoschisis	AAV2	RS1	Replacement	AGTC	Phase I/II
	X-linked retinoschisis	AAV8	RS1	Replacement	NEI	Phase I/II
Liver	Crigler-Najjar syndrome	AAV8	UGT1A1	Replacement	Audentes	Phase I/II
		ND	UGT1A1	Replacement	Genethon	Phase I/II
	FH (homozygous)	AAV8	LDLR	Replacement	University of Pennsylvania	Phase I/II
	GSD1a	AAV8	G6PC	Replacement	Ultragenyx	Phase I/II
	Haemophilia A	AAV8	FVIII	Replacement	Shire	Phase I/II
		AAVhu.37	FVIII	Replacement	Bayer	Phase I/II
		AAV5	FVIII	Replacement	BioMarin	Phase III
		AAV6	FVIII	Replacement	Sangamo	Phase I/II
		ND	FVIII	Replacement	Spark	Phase I/II
		AAV8	FVIII	Replacement	UCL	Phase I
Liver	Haemophilia B	AAV8	FIX	Replacement	Shire	Phase I/II
		ND	FIX	Replacement	Pfizer	Phase II
		ND	FIX	Replacement	Pfizer	Phase III
		AAV6	FIX	Replacement	Sangamo	Phase I
		AAV8	FIX	Replacement	St. Jude Children’s Research Hospital	Phase I
		AAV5	FIX	Replacement	uniQure	Phase III
		ND	FIX	Replacement	UCL	Phase I
	MPS-I	AAV6	ZFN1, ZFN2 and IDUA donor	Editing	Sangamo	Phase I
	MPS-II	AAV6	ZFN1, ZFN2 and IDS donor	Editing	Sangamo	Phase I
	MPS-IIIA	AAVrh.K	SGSH	Replacement	LYSOGENE	Phase II/III
	MPS-VI	AAV8	ARSB	Replacement	Fondazione Telethon	Phase I/II
	OTC deficiency	AAV8	OTC	Replacement	Ultragenyx	Phase I/II
Muscle	A1AT deficiency	AAV2	A1AT	Replacement	UMMS	Phase I
	CMT1A	AAV1	NTF3	Addition	Nationwide Children’s Hospital	Phase I/II
	DMD	AAVrh.74	Micro-dystrophin	Replacement	Nationwide Children’s Hospital	Phase I/II
		AAV9	Mini-dystrophin	Replacement	Pfizer	Phase I
		AAV9	Micro-dystrophin	Replacement	Solid Biosciences	Phase I/II
	Dysferlinopathy	AAVrh.74	DYSF	Replacement	Nationwide Children’s Hospital	Phase I
	HIV infections	AAV1	PG9 antibody	Addition	International AIDS Vaccine Initiative	Phase I
	HIV infections	AAV8	VRC07 antibody	Addition	NIAID	Phase I
	Pompe disease	AAV8	GAA	Replacement	Actus Therapeutics	Phase I/II
	Pompe disease	AAV9	GAA	Replacement	University of Florida	Phase I
	X-linked MTM	AAV8	MTM1	Replacement	Audentes	Phase I/II

A1AT, α1-antitrypsin; AADC, aromatic l-amino acid decarboxylase; AGTC, Applied Genetic Technologies Corporation; AMD, age-related macular degeneration; ARSB, arylsulfatase B; CLN2, neuronal ceroid lipofuscinosis type 2; CMT1A , Charcot–Marie–Tooth disease type 1A ; CNGB3, cyclic nucleotide-gated channel-β3; DMD, Duchenne muscular dystrophy ; DYSF, dysferlin; FH, familial hypercholesterolaemia; FVIII, factor VIII; G6PC, glucose-6-phosphatase catalytic subunit; GAA , α-glucosidase; GAN, gigaxonin; GDNF, glial cell line-derived neurotrophic factor ; GSD1a, glycogen storage disease type 1a; LCA , Leber congenital amaurosis; LDLR , low-density lipoprotein receptor ; LHON, Leber hereditary optic neuropathy ; mAb, monoclonal antibody ; MPS, mucopolysaccharidosis; MTM, myotubular myopathy ; NAGLU, N-α-acetylglucosaminidase; ND, not disclosed; ND4, NADH-ubiquinone oxidoreductase chain 4; NEI, National Eye Institute; NIAID, National Institute of Allergy and Infectious Diseases; NINDS, National Institute of Neurological Disorders and Stroke; NTF3, neurotrophin 3; OTC, ornithine transcarbamylase; REP1, RAB escort protein 1; RLBP1, retinaldehyde-binding protein 1; RP, retinitis pigmentosa; RPE65, retinal pigment epithelium-specific 65 kDa protein; RPGR , retinitis pigmentosa GTPase regulator ; RS1, retinoschisin 1; SGSH, N-sulfoglucosamine sulfohydrolase; SMA , spinal muscular atrophy ; SMN, survival of motor neuron; UCL , University College London; UCSF, University of California San Francisco; UGT1A1, UDP glucuronosyltransferase family 1 member A1; UMMS, University of Massachusetts Medical School; VEGF, vascular endothelial growth factor ; ZFN, zinc-finger-containing protein.