# US 2021/0330816 A1 · Gene therapy for ocular disorders

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- Number: US 2021/0330816 A1
- Document ID: US20210330816A1
- Status: Published application
- Kind: A1
- Application number: 17/369,525
- Filed: 2021-07-07
- Published: 2021-10-28
- Earliest claimed: 2015-12-14
- Assignees: The Trustees of the University of Pennsylvania
- Applicants: The Trustees of the University of Pennsylvania
- Inventors: Jean Bennett; Jeannette Bennicelli; Junwei Sun
- Web page: https://patentgrep.com/patent/US20210330816A1

## CPC

- A61K 48/0058: {Nucleic acids adapted for tissue specific expression, e.g. having tissue specific promoters as part of a contruct}
- A61K 9/0048: {Eye, e.g. artificial tears}
- A61K 48/00: Medicinal preparations containing genetic material which is inserted into cells of the living body to treat genetic diseases; Gene therapy
- A61P 27/02: Ophthalmic agents
- C07K 14/47: from mammals
- C07K 14/705: Receptors; Cell surface antigens; Cell surface determinants {(tumour specific antigens C07K14/4748)}
- C12N 15/86: Viral vectors
- C12N 2750/14143: viral genome or elements thereof as genetic vector
- C12N 2799/022: where the vector is derived from an adenovirus
- C12N 2799/04: in vivo
- C12N 2800/107: for mammalian
- C12N 2800/22: Vectors comprising a coding region that has been codon optimised for expression in a respective host
- C12N 2840/002: controllable or inducible
- C12N 2840/007: cell or tissue specific
- A61K: PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES (devices or methods specially adapted for bringing pharmaceutical products into particular physical or administering forms A61J3/00; chemical aspects of, or use of materials for deodorisation of air, for disinfection or sterilisation, or for bandages, dressings, absorbent pads or surgical articles A61L; soap compositions C11D)
- A61P: SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
- C07K: PEPTIDES (peptides in foodstuffs A23; obtaining protein compositions for foodstuffs, working-up proteins for foodstuffs A23J; preparations for medicinal purposes A61K; peptides containing beta-lactam rings C07D; cyclic dipeptides not having in their molecule any other peptide link than those which form their ring, e.g. piperazine-2,5-diones, C07D; ergot alkaloids of the cyclic peptide type C07D519/02; macromolecular compounds having statistically distributed amino acid units in their molecules, i.e. when the preparation does not provide for a specific; but for a random sequence of the amino acid units, homopolyamides and block copolyamides derived from amino acids C08G69/00; macromolecular products derived from proteins C08H1/00; preparation of glue or gelatine C09H; single cell proteins, enzymes C12N; genetic engineering processes for obtaining peptides C12N15/00; compositions for measuring or testing processes involving enzymes C12Q; investigation or analysis of biological material G01N33/00)
- C12N: MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA (microbiological testing media C12Q1/00)

## Abstract

Compositions and methods are provided for treating ocular disorders in a subject are provided. In one aspect, an adeno-associated viral vector is provided which includes a nucleic acid molecule comprising a sequence encoding CNGA3. In another aspect, an adeno-associated viral vector is provided which includes a nucleic acid molecule comprising a sequence encoding CNGB3. In another aspect, an adeno-associated viral vector is provided which includes a nucleic acid molecule comprising a sequence encoding REP-1. In desired embodiments, the subject is human, cat, dog, sheep, or non-human primate.

## Claims

### Claim 1

An adeno-associated virus (AAV) vector comprising an AAV capsid and a nucleic acid sequence comprising AAV inverted terminal repeat (ITR) sequences and a nucleic acid sequence encoding human Rab Escort Protein-1 (REP-1), and expression control sequences that direct expression of the REP-1 in a host cell.

### Claim 2 (depends on 1)

The AAV vector of claim 1, wherein the REP-1 sequence encodes the protein sequence of SEQ ID NO: 2.

### Claim 3 (depends on 1)

The AAV vector of claim 1, wherein the REP-1 sequence comprises SEQ ID NO: 1.

### Claim 4 (depends on 1)

The AAV vector of any of claim 1, wherein the expression control sequences comprise a chicken β-actin (CBA) promoter with cytomegalovirus (CMV) enhancer elements.

### Claim 5 (depends on 1)

The AAV vector of claim 1, wherein the expression control sequences comprise a rhodopsin kinase promoter.

### Claim 6 (depends on 1)

The AAV vector of claim 1, wherein the expression control sequences comprise an ocular cell-specific promoter.

### Claim 7 (depends on 1)

The AAV vector of claim 1, wherein the AAV capsid is from AAV2, AAV5, AAV8, AAV9, AAV8 bp, AAV7m8, and variants thereof.

### Claim 8 (depends on 1)

The AAV vector of claim 1, wherein the ITR sequences are from AAV2.

### Claim 9 (depends on 1)

A pharmaceutical composition comprising a pharmaceutically acceptable carrier and at least the AAV vector according to claim 1.

### Claim 10 (depends on 1)

A method for treating choroideremia, said method comprising administering the composition of claim 1 to a subject in need thereof.

### Claim 11

A method for treating achromatopsia, said method comprising administering to a subject in need thereof an AAV vector comprising an AAV capsid and a nucleic acid sequence comprising AAV ITR sequences and a nucleic acid sequence encoding human cyclic nucleotide gated channel alpha 3 (CNGA3), and expression control sequences that direct expression of the CNGA3 in a host cell.

### Claim 12 (depends on 11)

The method of claim 11, wherein the CNGA3 sequence encodes the protein sequence of SEQ ID NO: 10.

### Claim 13 (depends on 11)

The method of claim 11, wherein CNGA3 sequence comprises SEQ ID NO: 9 or SEQ ID NO: 11.

### Claim 14 (depends on 11)

The method of claim 11, wherein expression control sequences comprise an ocular cell-specific promoter.

### Claim 15

A viral vector comprising a vector genome comprising a 5′ ITR, a CMV enhancer, a Chicken beta-actin promoter, CBA exon 1 and intron, a Kozak sequence, a nucleic acid sequence encoding human Rab Escort Protein-1 (REP-1), bGH poly A, and a 3′ ITR.

### Claim 16 (depends on 15)

The viral vector of claim 15, wherein the sequence encoding REP-1 is SEQ ID NO. 1.

### Claim 17 (depends on 15)

The viral vector of claim 15, wherein the promoter is a rhodopsin kinase promoter.

### Claim 18 (depends on 15)

The viral vector of claim 15, wherein the ITR sequences are from AAV2.

### Claim 19 (depends on 15)

A pharmaceutical composition comprising a pharmaceutically acceptable carrier and at least the viral vector according to claim 15.

### Claim 20 (depends on 15)

The viral vector of claim 15, wherein the vector is a rAAV having a AAV capsid that is from AAV2, AAV5, AAV8, AAV9, AAV8 bp, AAV7m8 and variants thereof.