Summary of clinical trials using AAV gene transfer

Disease	Transgene product	Serotype	Route of administration	Clinical trial	ClinicalTrials.gov identifier	Refs
*AAV clinical trials for inherited diseases*
α1 antitrypsin deficiency	α1 antitrypsin	AAV2	Intramuscular	Phase I/II	NCT00377416	101,102
α1 antitrypsin deficiency	α1 antitrypsin	AAV1	Intramuscular	Phase I/II	NCT00430768	101,102
Batten’s disease	CLN2	AAV2	Direct intracranial administration	Phase I	NCT00151216	90
Batten’s disease	CLN2	AAVrh10	Direct intracranial administration	Phase I	NCT01161576	90
Canavan’s disease	Aspartoacylase	AAV2	Direct intracranial administration	Phase I	NA	89
Cystic fibrosis	CFTR	AAV2	Direct instillation to maxillary sinus, bronchoscopy to right lower lobe, aerosol to whole lung	Phase I/II	NCT00004533	154,155,156,157,158
Haemophilia B	Factor IX	AAV2	Intramuscular	Phase I/II	NCT00076557	36,39
		AAV2	Hepatic		NCT00515710
		AAV8	Intravenous		NCT00979238
Leber’s congenital amaurosis	RPE65	AAV2	Subretinal	Phase I/II	NCT00643747	4, 7, 17
					NCT00516477
					NCT00481546
LPL deficiency	LPL	AAV1	Intramuscular	Phase I/II	NCT01109498, NCT00891306	12,103,116
Pompe’s disease	GAA	AAV1	Series of intradiaphragmatic injections	Phase I/II	NCT00976352	NA (unpublished)
Muscular dystrophy: Duchenne	Microdystrophin	AAV1–AAV2 hybrid	Intramuscular	Phase I	NCT00428935	97
Muscular dystrophy: limb girdle	α-sarcoglycan	AAV1	Two to six separate injections into the selected muscle	Phase I	NCT00494195	95,96
*AAV clinical trials for acquired diseases*
Severe heart failure	SERCA2a	AAV1	Antegrade epicardial coronary artery infusion	Phase I/II	NCT00454818	159
Severe heart failure	SERCA2a	AAV6	Antegrade epicardial coronary artery infusion	Phase I/II	NCT00534703	159
Parkinson’s disease	AADC	AAV2	Intracranial	Phase I/II	NCT00229736	64,65
	GAD				NCT00643890, NCT00195143, NCT01301573	66,69
	Neutrophin				NCT00252850, NCT00985517, NCT00400634	67,68
Age-related macular degeneration	sFLT01	AAV2	Intravitreal injection	Phase I	NCT01024998	NA (unpublished)
Rheumatoid arthritis	TNFR-Fc	AAV2	Intra-articular	Phase I	NCT00617032, NCT00126724	160,161,162
AADC, aromatic-L-amino-acid decarboxylase; AAV, adeno-associated virus; CFTR, cystic fibrosis transmembrane regulator; CLN2, also known as tripeptidyl peptidase 1 (TPP1); GAA, acid α-glucosidase; GAD, glutamic acid decarboxylase; LPL, lipoprotein lipase; NA, not available; SERCA2a, sarcoplasmic reticulum calcium ATPase 2a; sFLT01, portion of the vascular endothelial growth factor natural receptor; TNFR-Fc, tumour necrosis factor receptor-immunoglobulin Fc fragment fusion protein.