# US 10,308,940 B2 · Antisense oligonucleotides useful in treatment of Pompe disease

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- Number: US 10,308,940 B2
- Document ID: US10308940B2
- Status: Granted
- Kind: B2
- Application number: 15/315,887
- Filed: 2015-06-10
- Published: 2017-08-31
- Granted: 2019-06-04
- Earliest claimed: 2014-06-10
- Assignees: Erasmus University Medical Center Rotterdam
- Applicants: Erasmus University Medical Center Rotterdam
- Inventors: Atze Jacobus Bergsma; Erik van der Wal; Wilhelmus Wenceslaus Matthias Pijnappel; Antje Tjitske van der Ploeg; Arnoldus Reuser
- Web page: https://patentgrep.com/patent/US10308940B2

## CPC

- C12N 15/1137: {against enzymes (viral enzymes C12N15/1131; receptors C12N15/1138)}
- A61P 3/00: Drugs for disorders of the metabolism (of the blood or the extracellular fluid A61P7/00)
- A61P 21/00: Drugs for disorders of the muscular or neuromuscular system
- C12N 15/111: {General methods applicable to biologically active non-coding nucleic acids}
- C12Y 302/0102: Alpha-glucosidase (3.2.1.20)
- C12N 2310/11: Antisense
- C12N 2310/321: 2'-O-R Modification
- C12N 2310/3233: Morpholino-type ring
- C12N 2320/33: Alteration of splicing
- C12N 2320/34: Allele or polymorphism specific uses
- C12N: MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA (microbiological testing media C12Q1/00)
- A61P: SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
- C12Y: ENZYMES

## Abstract

The present invention is directed to antisense oligomeric compounds that may be used in the treatment Pompe disease as well as method for modulating the splicing of the GAA gene and method to treat Pompe disease. Also pharmaceutical compositions comprising the antisense oligomeric compounds are part of the invention.

## Claims

### Claim 1

A method of modulating splicing of GAA pre-mRNA in a cell comprising: contacting the cell with an antisense oligomeric compound targeting SEQ ID NO:1 or a single nucleotide polymorphism of SEQ ID NO:1, wherein the antisense oligomeric compound comprises a nucleic acid sequence selected from the group consisting of SEQ ID Nos: 2-33, 38-40, 47 and 92-97 or a sequence having at least 95% sequence identity thereto.

### Claim 2

A method for treating Pompe disease in a patient comprising administering an effective amount of an antisense oligmeric compound targeting SEQ ID NO:1 or a single nucleotide polymorphism of SEQ ID NO:1, wherein the antisense oligomeric compound comprises a nucleic acid sequence selected from the group consisting of SEQ ID Nos: 2-33, 38-40, 47 and 92-97 or a sequence having at least 95% sequence identity thereto.

### Claim 3

A method to restore the function of GAA in a cell wherein said method comprises the administration of an antisense oligmeric compound targeting SEQ ID NO:1 or a single nucleotide polymorphism of SEQ ID NO:1, wherein the antisense oligomeric compound comprises a nucleic acid sequence selected from the group consisting of SEQ ID Nos: 2-33, 38-40, 47 and 92-97 or a sequence having at least 95% sequence identity thereto.

### Claim 4

A method of correcting abnormal gene expression in a cell, preferably a muscular cell, of a subject, the method comprising administering to the subject an antisense oligomeric compound targeting SEQ ID NO:1 or a single nucleotide polymorphism of SEQ ID NO:1, wherein the antisense oligomeric compound comprises a nucleic acid sequence selected from the group consisting of SEQ ID Nos: 2-33, 38-40, 47 and 92-97 or a sequence having at least 95% sequence identity thereto.

### Claim 5 (depends on 1)

The method according to claim 1 wherein the cell comprises at least one mutation selected from the group consisting of c.-32-13T>G, c.-32-3C>G, c.547-6, c.1071, c.1254, and c.1552 30.

### Claim 6 (depends on 1)

The method of claim 1 wherein exon inclusion is accomplished.

### Claim 7 (depends on 5)

The method according to claim 5, wherein the cell comprises mutation c.-32-3C>G or c.-32-13T>G.