# US 2013/0158104 A1 · Vectors and sequences for the treatment of diseases

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- Number: US 2013/0158104 A1
- Document ID: US20130158104A1
- Status: Published application
- Kind: A1
- Application number: 13/703,179
- Filed: 2011-06-10
- Published: 2013-06-20
- Earliest claimed: 2010-06-10
- Assignees: Laboratorios Del Dr. Esteve, S.A.; Universidad Autonoma De Barcelona
- Inventors: Fátima Bosch Tubert; Éduard Ayuso López; Albert Ruzo Matías
- Web page: https://patentgrep.com/patent/US20130158104A1

## CPC

- C12N 15/86: Viral vectors
- A61K 48/0066: {Manipulation of the nucleic acid to modify its expression pattern, e.g. enhance its duration of expression, achieved by the presence of particular introns in the delivered nucleic acid}
- A61P 19/00: Drugs for skeletal disorders
- A61P 25/00: Drugs for disorders of the nervous system
- A61P 43/00: Drugs for specific purposes, not provided for in groups A61P1/00-A61P41/00
- C12N 9/14: Hydrolases (3)
- C12N 15/52: Genes encoding for enzymes or proenzymes
- C12N 15/8645: {Adeno-associated virus}
- A61K 48/00: Medicinal preparations containing genetic material which is inserted into cells of the living body to treat genetic diseases; Gene therapy
- C12N 2750/14143: viral genome or elements thereof as genetic vector
- C12N 2830/008: cell type or tissue specific enhancer/promoter combination
- C12N 2830/48: regulating transport or export of RNA, e.g. RRE, PRE, WPRE, CTE
- C12N 2840/105: enhancing translation
- C12N: MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA (microbiological testing media C12Q1/00)
- 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

## Abstract

The present invention provides new sequences, gene constructions, vectors and pharmaceutical compositions for the treatment of diseases and specially, for the treatment of mucopolysaccharidoses.

## Claims

### Claim at position 1

1-26. (canceled)

### Claim 27

An isolated nucleotide sequence having at least 85% sequence identity to SEQ ID NO: 1 that codifies for the protein SEQ ID NO: 2.

### Claim 28

An isolated nucleotide sequence wherein said sequence is SEQ ID NO: 1.

### Claim 29 (depends on 27)

A gene construction comprising the nucleotide sequence according to claim 27.

### Claim 30 (depends on 29)

The gene construction according to claim 29, wherein said gene construction is an expression vector.

### Claim 31 (depends on 30)

An expression vector as defined in claim 30, wherein said vector is an adeno-associated vector.

### Claim 32 (depends on 31)

The expression vector according to claim 31, wherein the serotype of the adeno-associated vector is 1, 2, 5, 7, 8 or 9.

### Claim 33 (depends on 32)

The expression vector according to claim 32, wherein the serotype is 9.

### Claim 34 (depends on 31)

The expression vector according to claim 31, comprising a CAG promoter operably linked to SEQ ID NO: 1.

### Claim 35 (depends on 34)

The expression vector according to claim 34, wherein the expression vector is a plasmid vector AAV9-CAG-co-hu-SFMD and is serotype 9.

### Claim 36 (depends on 35)

The plasmid vector pAAV-CAG-co-hu-SFMD according to claim 35 with accession number DSM 24817.

### Claim 37 (depends on 30)

The expression vector as defined in claim 30 comprising a hAAT promoter operably linked to SEQ ID NO: 1.

### Claim 38 (depends on 37)

The expression vector according to claim 37, wherein the expression vector is a plasmid vector pAAV-hAAT-co-hu-SFMD and is serotype 8 or 9.

### Claim 39 (depends on 38)

The plasmid vector pAAV9-hAAT-co-hu-SFMD according to claim 38 wherein the vector is serotype 9.

### Claim 40 (depends on 27)

A pharmaceutical composition comprising the nucleotide sequence according to claim 27.

### Claim 41 (depends on 29)

A pharmaceutical composition comprising the gene construction according to claim 29.

### Claim 42 (depends on 31)

A pharmaceutical composition comprising the expression vector according to claim 31.

### Claim 43 (depends on 40, 41)

A method for increasing the sulfamidase activity in the body comprising administering to a subject in need thereof the pharmaceutical composition according to claim 40, 41, or 42.

### Claim 44 (depends on 40, 41)

A method for the treatment of mucopolysaccharidoses comprising administering to a subject having mucopolysaccharidoses the pharmaceutical composition according to claim 40, 41, or 42.

### Claim 45 (depends on 31)

A method of producing the expression vectors according to claim 31 comprising the steps of:
i) providing a first vector comprising the SEQ ID NO: 1 interposed between a first AAV terminal repeat and a second AAV terminal repeat, a CAG or hAAT promoter operably linked to the SEQ ID NO: 1; a second vector comprising an AAV rep gene and a AAV cap gene; and a third vector comprising the adenovirus helper function;
ii) co-transfecting competent cells with the vectors of step i);
iii) culturing the transfected cells of step ii); and
iv) purifying the expression vectors from the culture of step iii).

### Claim 46 (depends on 27)

An isolated cell transfected with the nucleotide sequence according to claim 27.

### Claim 47 (depends on 29)

An isolated cell transfected with the gene construction according to claim 29.

### Claim 48 (depends on 31)

An isolated cell transfected with the expression vector according to claim 31.