Granted Patent
B2
US 12,297,447 · App. 17/131,564 · Granted May 13, 2025
Gene therapy for juvenile Batten disease
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Abstract
Compositions and methods for the treatment of Juvenile Neuronal Ceroid Lipofuscinosis (JNCL), also known as Juvenile Batten Disease, are provided herein. In certain embodiments the compositions include but are not limited to adeno-associated viral (AAV) constructs, including self-complementary adeno-associated viral (sc-AAV) constructs, that express the human gene CLN3 (or a CLN3 cDNA).
Claims (14)
1. A method for treating Juvenile neuronal ceroid lipofuscinosis (JNCL), the method comprising intravenously administering a composition comprising a recombinant adeno-associated viral (AAV) vector comprising a polynucleotide sequence encoding CLN3 operably linked to a methyl-CPG binding protein 2 (MeCP2) promoter to a mammal that has JNCL such that one or more symptoms of the JNCL are treated, wherein the AAV is AAV1, AAV2, AAV4, AAV5, AAV6, AAV8, or AAV9.
2. The method of claim 1 , wherein the mammal is a human.
3. The method of claim 2 , wherein the human is homozygous for a CLN3 mutation.
4. The method of claim 2 , wherein the one or more symptoms of JNCL are blindness, seizure, motor loss, or cognitive decline.
5. The method of claim 1 , wherein the recombinant AAV vector comprises the polynucleotide sequence of SEQ ID NO: 2.
6. The method of claim 1 , wherein the AAV is AAV9 or AAV2.
7. The method of claim 1 , wherein the AAV vector is single stranded or self-complimentary.
8. The method of claim 1 , wherein the recombinant AAV vector further comprises a posttranslational regulatory element.
9. The method of claim 8 , wherein the posttranscriptional regulatory element is selected from a Woodchuck Post-transcriptional Regulatory Element (WPRE), a WPRE2, or a WPRE3.
10. The method of claim 8 , wherein the posttranscriptional regulatory element is hepatitis B virus posttranscriptional regulatory element (HPRE).
11. The method of claim 1 , wherein the AAV vector is a self-complementary AAV9 vector.
12. The method of claim 1 , wherein the administering occurs 1, 2, 3, 4, 5, 6, 7, 8, 9, 10 or more times.
13. The method of claim 1 , wherein the AAV vector is a self-complementary AAV9 vector comprising a polynucleotide sequence encoding CLN3 that comprises the nucleic acid sequence of SEQ ID NO: 11 operably linked to the MeCP promoter.
14. The method of claim 1 , wherein the composition further comprises a pharmaceutically acceptable carrier or diluent.
Assignments (1)
ASSIGNMENT OF ASSIGNOR'S INTEREST
Recorded Feb 5, 2026
From: KIELIAN, TAMMY
To: BOARD OF REGENTS OF THE UNIVERSITY OF NEBRASKA
Reel/Frame 073699/0506 →
Continuity (4)
Continuation
15537384
Provisional Application
62146793
· Apr 13, 2015
Provisional Application
62092501
· Dec 16, 2014
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