# US 11,077,208 B2 · Wilson's disease gene therapy

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- Number: US 11,077,208 B2
- Document ID: US11077208B2
- Status: Granted
- Kind: B2
- Application number: 16/063,451
- Filed: 2016-12-19
- Published: 2020-08-27
- Granted: 2021-08-03
- Earliest claimed: 2015-12-18
- Assignees: UCL Business PLC
- Applicants: UCL Business Ltd
- Inventors: Amit Nathwani; Deepak Raj
- Web page: https://patentgrep.com/patent/US11077208B2

## CPC

- A61K 48/0058: {Nucleic acids adapted for tissue specific expression, e.g. having tissue specific promoters as part of a contruct}
- C12N 9/14: Hydrolases (3)
- A01K 67/0275: Genetically modified vertebrates, e.g. transgenic
- C12N 15/8509: {for producing genetically modified animals, e.g. transgenic}
- C12N 15/86: Viral vectors
- A01K 2217/052: inducing gain of function
- C12N 2750/14143: viral genome or elements thereof as genetic vector
- C12N 2750/14171: Demonstrated in vivo effect
- C12N 2800/22: Vectors comprising a coding region that has been codon optimised for expression in a respective host
- C12N 2830/008: cell type or tissue specific enhancer/promoter combination
- 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)
- C12N: MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA (microbiological testing media C12Q1/00)
- A01K: ANIMAL HUSBANDRY; AVICULTURE; APICULTURE; PISCICULTURE; FISHING; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; NEW BREEDS OF ANIMALS

## Abstract

There is described a new gene therapy approach for treating Wilson's disease in which a nucleic acid molecule is used which comprises a nucleotide sequence encoding for a functional ATP7B protein wherein the nucleotide sequence has at least 85% identity to the sequence of SEQ ID NO: 1. Also described are vectors comprising the nucleotide sequence and methods and uses thereof.

## Claims

### Claim 1

A nucleic acid molecule comprising a nucleotide sequence encoding for a functional ATP7B protein wherein the nucleotide sequence has the sequence of SEQ ID NO.1.

### Claim 2 (depends on 1)

A vector for expressing ATP7B protein, the vector comprising the nucleic acid molecule of claim 1.

### Claim 3 (depends on 2)

The vector of claim 2, further comprising a liver specific promoter.

### Claim 4 (depends on 2)

The vector of claim 2, wherein the vector is an AAV vector.

### Claim 5 (depends on 2)

The vector of claim 2, wherein the vector is a single stranded vector.

### Claim 6 (depends on 1)

A host cell comprising the nucleic acid molecule of claim 1.

### Claim 7 (depends on 1)

A pharmaceutical composition comprising the nucleic acid molecule of claim 1, and one or more pharmaceutically acceptable excipients.

### Claim 8 (depends on 2)

A pharmaceutical composition comprising the vector of claim 2, and one or more pharmaceutically acceptable excipients.

### Claim 9 (depends on 2)

A method of treating Wilson's disease comprising administering a therapeutically effective amount of the vector of claim 2 to a patient suffering from Wilson's disease.

### Claim 10 (depends on 2)

A method for delivery of a nucleotide sequence encoding ATP7B protein to a subject, which method comprises administering to the said subject the vector of claim 2.