# US 12,180,499 B2 · Compositions and methods for impeding transcription of expanded microsatellite repeats

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- Number: US 12,180,499 B2
- Document ID: US12180499B2
- Status: Granted
- Kind: B2
- Application number: 16/346,163
- Filed: 2017-10-31
- Published: 2021-09-16
- Granted: 2024-12-31
- Earliest claimed: 2016-10-31
- Assignees: University of Florida Research Foundation, Inc.
- Applicants: University of Florida Research Foundation, Inc.
- Inventors: Eric Tzy-Shi Wang; Tanvi Saxena; Belinda Pinto; John Andrew Berglund
- Web page: https://patentgrep.com/patent/US12180499B2

## CPC

- A61K 48/00: Medicinal preparations containing genetic material which is inserted into cells of the living body to treat genetic diseases; Gene therapy
- C12N 15/86: Viral vectors
- A61K 31/704: attached to a condensed carbocyclic ring system, e.g. sennosides, thiocolchicosides, escin, daunorubicin {(digitoxin A61K31/7048)}
- A61K 38/12: Cyclic peptides {, e.g. bacitracins; Polymyxins; Gramicidins S, C; Tyrocidins A, B or C (A61K38/043 - A61K38/046 take precedence)}
- A61P 21/00: Drugs for disorders of the muscular or neuromuscular system
- C12N 7/00: Viruses; Bacteriophages; Compositions thereof; Preparation or purification thereof (preparing medicinal viral antigen or antibody compositions, e.g. virus vaccines, A61K39/00)
- C12N 9/226: {Class 2 CAS enzyme complex, e.g. single CAS protein}
- C12N 15/11: DNA or RNA fragments; Modified forms thereof (DNA or RNA not used in recombinant technology, C07H21/00); {Non-coding nucleic acids having a biological activity}
- C12N 2310/20: involving clustered regularly interspaced short palindromic repeats [CRISPR]
- C12N 2750/14123: Virus like particles [VLP]
- C12N 2750/14132: Use of virus as therapeutic agent, other than vaccine, e.g. as cytolytic agent
- C12N 2750/14141: Use of virus, viral particle or viral elements as a vector
- C12N 2750/14143: viral genome or elements thereof as genetic vector
- C12N 2750/14171: Demonstrated in vivo effect
- C12N 2800/80: Vectors containing sites for inducing double-stranded breaks, e.g. meganuclease restriction sites
- 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)
- A61P: SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS

## Abstract

Disclosed herein are compositions and methods for treating diseases characterized by expanded microsatellite repeats by impeding or inhibiting transcription of expanded microsatellite repeats.

## Claims

### Claim 1

An adeno-associated virus (AAV) vector, an AAV virion or an AAV viral particle comprising:
a viral capsid;
a nucleic acid encoding a deactivated S. aureus Cas9 (dSaCas9) that is not fused to a transcriptional repressor; and
a nucleic acid encoding a CTG repeat-targeting guide RNA (gRNA).

### Claim 2 (depends on 1)

The AAV vector, AAV virion or AAV viral particle according to claim 1, wherein said guide RNA comprises the nucleic acid sequence (CAG)6 (SEQ ID NO:1).