IP Library › Granted Patent US 12,390,146
Granted Patent B2
US 12,390,146 · App. 17/500,426 · Granted Aug 19, 2025

Reagents and methods for modulating cone photoreceptor activity

Inventors: Jay Neitz (Seattle, WA); Maureen Neitz (Seattle, WA); James A. Kuchenbecker (Seattle, WA); William W. Hauswirth (Gainesville, FL)
Assignees: UNIVERSITY OF WASHINGTON; UNIVERSITY OF FLORIDA RESEARCH FOUNDATION, INCORPORATED
A61B5/398A61B5/0036A61B5/0048A61B5/4836A61B5/4848A61B5/6821A61B5/7225A61K48/0058A61K48/0075A61N5/0622C07K14/005C12N7/00C12N15/85C12N15/86A61N2005/0652A61N2005/0661A61N2005/0663C12N2750/14132C12N2750/14143C12N2799/025C12N2830/008C12N2830/42C12N2840/44
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Quick Facts
Patent No.
US 12,390,146
App. No.
17/500,426
Granted
Aug 19, 2025
Kind
B2
Abstract

The present invention provides reagents and methods for modulating cone photoreceptor activity, and devices for assessment of cone photoreceptor activity.

Claims (12)

1. An isolated nucleic acid expression vector comprising:

(a) a promoter region comprising an M opsin promoter comprising the nucleic acid sequence of SEQ ID NO: 2, wherein the promoter region is specific for primate retinal cone cells; and

(b) a gene encoding a therapeutic protein comprising the amino acid sequence of SEQ ID NO: 11, wherein the gene is operatively linked to the promoter region.

2. The isolated nucleic acid expression vector of claim 1 , wherein the expression vector is a recombinant adeno-associated virus (AAV) gene delivery vector.

3. The isolated nucleic acid expression vector of claim 1 , wherein the therapeutic protein, when expressed in cone cells of a primate having color blindness and/or blue cone monochromacy (BCM), is capable of: 1) enabling the primate to visualize and to discriminate between red and green colors; and/or 2) restoring visual capacity in the primate.

4. The isolated nucleic acid expression vector of claim 3 , wherein the visual capacity is selected from the group consisting of: a reduction or slowing of vision loss; improved visual acuity; and a decrease in abnormal sensitivity to bright lights.

5. The isolated nucleic acid expression vector of claim 1 , further comprising an enhancer element upstream of the M opsin promoter, wherein the enhancer element comprises the nucleic acid sequence of SEQ ID NO: 51, and wherein the gene is operatively linked to the enhancer element.

6. The isolated nucleic acid expression vector of claim 1 , further comprising an intron comprising a splice donor/acceptor region, wherein the intron is located downstream of the promoter region and is located upstream of the gene.

7. A formulation comprising packaged viral particles comprising the nucleic acid expression vectors of claim 1 .

8. The formulation of claim 7 , wherein the formulation is used to treat a cone cell disorder.

9. The formulation of claim 8 , wherein the cone cell disorder is selected from the group consisting of color blindness, blue cone monochomacy, achromatopsia, incomplete achromatopsia, rod-cone degeneration, retinitis pigmentosa (RP), macular degeneration, cone dystrophy, blindness, Stargardt's Disease, and Leber's congenital amaurosis.

10. A recombinant host cells transfected or transduced with the nucleic acid expression vector of claim 1 .

Assignments (2)
ASSIGNMENT OF ASSIGNOR'S INTEREST Recorded Oct 14, 2021
From: NEITZ, JAY; NEITZ, MAUREEN; KUCHENBECKER, JAMES A.
To: UNIVERSITY OF WASHINGTON
Reel/Frame 057791/0133 →
ASSIGNMENT OF ASSIGNOR'S INTEREST Recorded Oct 14, 2021
From: HAUSWIRTH, WILLIAM W.
To: UNIVERSITY OF FLORIDA RESEARCH FOUNDATION, INCORPORATED
Reel/Frame 057803/0974 →
Continuity (6)
Continuation 15939674 · Mar 29, 2018
Continuation 14837448 · Aug 27, 2015
Continuation 14075415 · Nov 8, 2013
Continuation 13395609
Provisional Application 61242587 · Sep 15, 2009
Related Publication 20220183613A1 · Jun 16, 2022
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