# US 8,569,032 B2 · Proteins having acquired A-galactosidase activity

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- Number: US 8,569,032 B2
- Document ID: US8569032B2
- Status: Granted
- Kind: B2
- Application number: 12/600,497
- Filed: 2008-05-19
- Published: 2010-11-18
- Granted: 2013-10-29
- Earliest claimed: 2007-05-18
- Assignees: Tokyo Metropolitan Institute of Medical Science; Altif Laboratories
- Applicants: Hitoshi Sakuraba; Youichi Tajima; Ikuo Kawashima; Seiichi Aikawa; Fumiko Aikawa
- Inventors: Hitoshi Sakuraba; Youichi Tajima; Ikuo Kawashima; Seiichi Aikawa; Fumiko Aikawa
- Web page: https://patentgrep.com/patent/US8569032B2

## CPC

- C12N 9/2465: {acting on alpha-galactose-glycoside bonds, e.g. alpha-galactosidase (3.2.1.22)}
- A61K 38/47: acting on glycosyl compounds (3.2), e.g. cellulases, lactases
- A61K 48/005: {characterised by an aspect of the 'active' part of the composition delivered, i.e. the nucleic acid delivered}
- A61P 3/00: Drugs for disorders of the metabolism (of the blood or the extracellular fluid A61P7/00)
- A61P 3/06: Antihyperlipidemics
- A61P 9/10: for treating ischaemic or atherosclerotic diseases, e.g. antianginal drugs, coronary vasodilators, drugs for myocardial infarction, retinopathy, cerebrovascula insufficiency, renal arteriosclerosis
- A61P 13/12: of the kidneys
- A61P 27/02: Ophthalmic agents
- A61P 35/00: Antineoplastic agents
- A61P 43/00: Drugs for specific purposes, not provided for in groups A61P1/00-A61P41/00
- 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 a pharmaceutical composition comprising a protein having α-galactosidase activity for treating Fabry disease, which causes no allergic side effect, which is highly stable in blood (plasma) and which can readily be taken up by a cell of an affected organ. The pharmaceutical composition for treating Fabry disease of the invention comprises, for example, a protein which acquires an α-galactosidase activity through alteration of the structure of the active site of wild-type human α-N-acetylgalactosaminidase.

## Claims

### Claim 1

An isolated protein comprising a variant of SEQ ID NO: 6 having α-galactosidase activity, said variant selected from:
(i) the variant of SEQ ID NO: 6 consisting of a substitution of serine 202 by a different amino acid;
(ii) the variant of SEQ ID NO: 6 consisting of a substitution of alanine 205 by a different amino acid;
(iii) a variant of SEQ ID NO: 6 consisting of a substitution of serine 202 by a different amino acid and a substitution of serine 205 by a different amino acid; and
(iv) a variant of SEQ ID NO: 6 consisting of a substitution of serine 202 by a different amino acid and/or a substitution of serine 205 by a different amino acid and wherein one to ten additional amino acids are deleted, substituted or added.

### Claim 2 (depends on 1)

The isolated protein according to claim 1, wherein serine 202 is substituted with glutamic acid or aspartic acid.

### Claim 3 (depends on 1)

The isolated protein according to claim 1, wherein alanine 205 is substituted with leucine, valine, isoleucine, phenylalanine, or methionine.

### Claim 4 (depends on 1)

The isolated protein according to claim 1, wherein serine 202 is substituted with glutamic acid and alanine 205 is substituted with leucine.