US2020138975A1PendingUtilityA1

Aav vector for treatment of friedreich's ataxia

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Assignee: UNIV FLORIDAPriority: Apr 24, 2015Filed: Jan 17, 2020Published: May 7, 2020
Est. expiryApr 24, 2035(~8.7 yrs left)· nominal 20-yr term from priority
Inventors:Manuela CortiBarry John Byrne
C12N 15/86C12N 2800/22C12N 2750/14143A61P 25/00A61K 31/7088A61K 48/005A61K 9/0019C12N 2840/105C12N 15/8645
64
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Claims

Abstract

Provided herein are nucleic acids, recombinant adeno-associated viral particles, compositions and methods related to treating Friedreich's ataxia. In some examples, the nucleic acids, recombinant adeno-associated viral particles, compositions and methods involve us of a FXN coding sequence, a truncated FXN 3′ UTR, and a prompter.

Claims

exact text as granted — not AI-modified
What is claimed is: 
     
         1 . A nucleic acid comprising an expression construct comprising a human frataxin (FXN) coding sequence and a truncated human FXN 3′ untranslated region (UTR) operably linked to a promoter, wherein the expression construct is flanked on each side by an inverted terminal repeat sequence. 
     
     
         2 . The nucleic acid of  claim 1 , wherein the human FXN coding sequence is codon-optimized for expression in human cells. 
     
     
         3 . The nucleic acid of  claim 2 , wherein the FXN coding sequence comprises the sequence of SEQ ID NO: 1. 
     
     
         4 . The nucleic acid of any one of  claims 1  to  3 , wherein the promoter comprises one or more of the following: a Desmin promoter, a chicken β-actin (CBA) promoter, or an endogenous human FXN promoter (hFXNPro). 
     
     
         5 . The nucleic acid of  claim 4 , wherein the Desmin promoter comprises the sequence of SEQ ID NO: 2. 
     
     
         6 . The nucleic acid of any one of  claim 4 , wherein the CBA promoter comprises the sequence of SEQ ID NO: 7. 
     
     
         7 . The nucleic acid of any one of  claims 4  to  6 , wherein the hFXNPro comprises the sequence of SEQ ID NO: 8. 
     
     
         8 . The nucleic acid of any one of  claims 1  to  7 , wherein the truncated human FXN 3′ UTR has the sequence of SEQ ID NO: 3. 
     
     
         9 . The nucleic acid of any one of  claims 1  to  8 , wherein the expression construct comprises the sequence of SEQ ID NO: 4. 
     
     
         10 . The nucleic acid of any one of  claims 1  to  9 , wherein the nucleic acid is a recombinant adeno-associated virus (rAAV) vector. 
     
     
         11 . The nucleic acid of  claim 10 , wherein the nucleic acid is a single-stranded or self-complementary rAAV nucleic acid vector. 
     
     
         12 . A recombinant adeno-associated virus (rAAV) particle comprising the nucleic acid of  claim 10  or  claim 11 . 
     
     
         13 . The rAAV particle of  claim 12 , wherein the rAAV particle is an AAV9 particle. 
     
     
         14 . A composition comprising a plurality of the rAAV particle of  claim 12  or  claim 13 . 
     
     
         15 . The composition of  claim 14 , further comprising a pharmaceutically acceptable carrier. 
     
     
         16 . A method of treating Friedreich's ataxia, the method comprising:
 administering a therapeutically effective amount of the rAAV particle of  claim 12  or  claim 13  or the composition of  claim 14  or  claim 15  to a subject having Friedreich's ataxia.   
     
     
         17 . The method of  claim 16 , wherein the rAAV particle or composition are administered via intravenous injection. 
     
     
         18 . The method of  claim 16 , wherein the rAAV particle or composition are administered via intrathecal injection. 
     
     
         19 . The method of  claim 16 , wherein the rAAV particle or composition are administered via intracisternal injection. 
     
     
         20 . The method of  claim 17 , further comprising administering the rAAV particle or composition via intrathecal injection. 
     
     
         21 . The method of  claim 17 , further comprising administering the rAAV particle or composition via intracisternal injection. 
     
     
         22 . The method of  claim 20 , wherein the ratio of rAAV particle administered to the subject via intravenous injection to rAAV particle administered to the subject via intrathecal injection is 1:10. 
     
     
         23 . The method of  claim 21 , wherein the ratio of rAAV particle administered to the subject via intravenous injection to rAAV particle administered to the subject via intracistemrnal injection is 1:10.

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