Table 4. Proposed Future Clinical Trials.

Proposed or potential clinical trials following evidence of pre-clinical treatment efficacy.

Sponsor	Disease	Gene	Proposed Vector	Preclinical Evidence/ Animal Models	Ref	Sponser Ref
AGTC	Achromatopsia	CNGB3	AAV	Mouse (Cngb3-KO) Canine (CNGB3-KO, CNGB3m/m)	[136,161]	[166]
AGTC	Achromatopsia	CNGA3	AAV	Mice (Cpfl5Cnga3-KO)	[137,138]	[166]
Genable	adRP	RHO	AAV	Mouse (P347SRHO)	[142]	[167]
University of Alberta	Choroideremia	CHM	AAV2	Mouse (Chmnull/WT)	[159,160]	[168]
Spark Therapeutics	Choroideremia	CHM	AAV2	Mouse (Chmnull/WT)	[159,160]	[169]
Genzyme	LCA Type 1	GUCY2D	AAV	Mice (Gucy2e–KO, Gucy2e/Gucy2f dKO)	[126,127,162]	[170]
	LCA Type 10	CEP290	AAV?	Mouse (rd16; Nrl−/−) Feline (rdAc Abyssinian cat)	[130,131]
AGTC	XLRP	RPGR	AAV5	Canine (XLPRA1, XLPRA2)	[141]	[171]
AGTC	XLRS	RS1	AAV5	Mouse (Rs1-KO)	[118,163,164]	[172]
		RdCVF		Mouse (rd10)	[145]

Abbreviations: AGTC, Applied Genetic Technologies Corp. adRP, autosomal dominant retinitis pigmentosa; LCA, Leber congenital amaurosis; XLRP, X-linked retinitis pigmentosa; XLRS, X-linked retinoschisis. CNGB3, cyclic nucleotide-gated channel beta 3; CNGA3, cyclic nucleotide-gated channel alpha 3; RHO, rhodopsin; CHM, choroideremia (Rab escort protein-1); GUCY2D, guanylate cyclase 2D, membrane (retina-specific), CEP290, centrosomal protein 290 kDa; RPGR, retinitis pigmentosa GTPase regulator; RS1, retinoschisin-1; RdCVF, rod-derived cone viability factor. AAV, adeno-associated virus; hIRBP, human interstitial retinol binding protein 3. KO, knockout; dKO, double knockout. Ref, references.

Preclinical evidence/animal models: CNGB3^m/m canine model, misssense mutation in exon 6; cpfl5 mouse, naturally occurring missense mutation in Cnga3; P347S–RHO mouse, missense mutation in RHO and a model of RHO-adRP; Chm^null/WT mouse, female heterozygous-null carriers with the choroideremia phenotype; Gucy2e, guanylate cyclase 2E, membrane (retina-specific), the mouse homolog of GUCY2D or RetGC1, Gucy2f, guanylate cyclase 2F, membrane (retina-specific), the mouse homolog of GUCY2F or RetGC2; Gucy2e/Gucy2f dKO mice are missing both RetGC1 and RetGC2. Rd16 mice, naturally occurring deletion of exons 35–39 of Cep290; Nrl/- mice, mouse lacking the neural retina leucine zipper gene involved in rod photoreceptor differentiation leading to an all-cone phenotype; rdAC, retinal degeneration Abyssinian cat with truncation mutation in CEP290; XLPRA1, X-linked progressive retinal atrophy-1, canine with ORF15 microdeletion (del 1028–1032) in RPGR; XLPRA2, X-linked progressive retinal atrophy-2, canine with ORF15 microdeletion (del 1084–1085) in RPGR; rd10, retinal degeneration 10 mouse with missense point mutation in Pde6b.