IP Library Granted Patent US 9,290,746
Granted Patent B2
US 9,290,746 · App. 14/633,757 · Granted Mar 22, 2016

TATk-CDKL5 fusion proteins, compositions, formulations, and use thereof

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Quick Facts
Patent No.
US 9,290,746
App. No.
14/633,757
Granted
Mar 22, 2016
Kind
B2
Abstract

Disclosed herein are compositions and formulations containing a TATk-CDKL5 fusion protein. Also disclosed are methods of producing a TATk-CDKL5 fusion protein from vectors containing a TATk-CDKL5 cDNA and methods of transducing cells with the vectors containing a TATk-CDKL5 cDNA and the TATk-CDKL5 fusion protein.

Claims (31)

1. A fusion protein comprising:

a CDKL5 polypeptide sequence, wherein the CDKL5 polypeptide sequence comprises SEQ ID NO:2 or SEQ ID NO: 16; and

a TATκ polypeptide sequence, wherein the TATκ polypeptide sequence has about 90% to about 100% sequence identity to SEQ ID NO: 4, wherein the TATκ polypeptide is operatively coupled to the CDKL5 polypeptide.

2. The fusion protein of claim 1 , further comprising an Igk-chain leader sequence polypeptide, wherein the Igk-chain leader sequence is operatively coupled to the CDKL5 polypeptide.

3. The fusion protein of claim 1 , further comprising a reporter protein polypeptide, wherein the reporter protein polypeptide is operatively coupled to the CDKL5 polypeptide.

4. The fusion protein of claim 1 , further comprising a protein tag polypeptide, wherein the protein tag polypeptide is operatively coupled to the CDKL5 polypeptide.

5. The fusion protein of claim 1 , wherein the fusion protein has a polypeptide sequence according to SEQ ID NO: 8, SEQ ID NO: 10, SEQ ID NO: 12, or SEQ ID NO: 14.

6. The fusion protein of claim 1 , wherein the fusion protein increases neurite growth, elongation, branch number, or branch density in a brain of a treated subject as compared to an untreated control subject.

7. The fusion protein of claim 1 , wherein the fusion protein reduces neuron apoptosis in the brain of a treated subject as compared to an untreated control subject.

8. A pharmaceutical formulation comprising:

a therapeutically effective amount of a fusion protein comprising:

a CDKL5 polypeptide sequence, wherein the CDKL5 polypeptide sequence comprises SEQ ID NO:2 or SEQ ID NO: 16; and

a TATκ polypeptide sequence, wherein the TATκ polypeptide sequence has about 90% to about 100% sequence identity to SEQ ID NO: 4, wherein the TATκ polypeptide is operatively coupled to the CDKL5 polypeptide; and

a pharmaceutically acceptable carrier.

9. The pharmaceutical formulation of claim 8 , wherein the fusion protein further comprises an Igk-chain leader sequence polypeptide, wherein the Igk-chain leader sequence is operatively coupled to the CDKL5 polypeptide.

10. The pharmaceutical formulation of claim 8 , wherein the fusion protein further comprises a reporter protein polypeptide, wherein the reporter protein polypeptide is operatively coupled to the CDKL5 polypeptide.

11. The pharmaceutical formulation of claim 8 , wherein the fusion protein further comprises a protein tag polypeptide, wherein the protein tag polypeptide is operatively coupled to the CDKL5 polypeptide.

12. The pharmaceutical formulation of claim 8 , wherein the fusion protein has a polypeptide sequence according to SEQ ID NO: 8, SEQ ID NO: 10, SEQ ID NO: 12, or SEQ ID NO: 14.

13. The pharmaceutical formulation of claim 8 , wherein the therapeutically effective amount of the fusion protein treats one or more symptoms of a CDKL5 deficiency, Rett syndrome, or Rett syndrome variant in a treated subject as compared to an untreated control subject.

14. The pharmaceutical formulation of claim 8 , wherein the therapeutically effective amount of the fusion protein increases neurite growth, elongation, branch number, or branch density in a brain of a treated subject as compared to an untreated control subject.

15. The pharmaceutical formulation of claim 8 , wherein the therapeutically effective amount of the fusion protein reduces neuron apoptosis in the brain of a treated subject as compared to an untreated control subject.

16. The pharmaceutical formulation of claim 8 , wherein the therapeutically effective amount of the fusion protein improves motor function in a treated subject as compared to an untreated control subject.

17. The pharmaceutical formulation of claim 8 , wherein the therapeutically effective amount of the fusion protein improves cognitive function in a treated subject as compared to an untreated control subject.

18. A method comprising:

administering to a subject in need thereof a therapeutically effective amount of a pharmaceutical formulation comprising:

an amount of a fusion protein comprising:

a CDKL5 polypeptide sequence, wherein the CDKL5 polypeptide sequence comprises SEQ ID NO:2 or SEQ ID NO: 16; and

a TATκ polypeptide sequence, wherein the TATκ polypeptide sequence has about 90% to about 100% sequence identity to SEQ ID NO: 4, wherein the TATκ polypeptide is operatively coupled to the CDKL5 polypeptide; and

a pharmaceutically acceptable carrier.

19. The method of claim 18 , wherein the subject in need thereof has or is suspected of having a CDKL5 deficiency, Rett syndrome, or a Rett syndrome variant.

20. The method of claim 18 , wherein the therapeutically effective amount of the fusion protein treats one or more symptoms of a CDKL5 deficiency, Rett syndrome, or Rett syndrome variant in a treated subject as compared to an untreated control subject.

Assignments (6)
RELEASE OF SECURITY INTEREST Recorded Apr 27, 2026
From: WILMINGTON TRUST, NATIONAL ASSOCIATION
To: AMICUS THERAPEUTICS, INC.
Reel/Frame 075494/0030 →
SECURITY INTEREST Recorded Oct 6, 2023
From: AMICUS THERAPEUTICS, INC.
To: WILMINGTON TRUST, NATIONAL ASSOCIATION
Reel/Frame 065177/0196 →
ASSIGNMENT OF ASSIGNOR'S INTEREST Recorded Jun 17, 2016
From: LACCONE, FRANCO
To: MEDICAL UNIVERSITY OF VIENNA
Reel/Frame 038939/0793 →
ASSIGNMENT OF ASSIGNOR'S INTEREST Recorded Feb 19, 2016
From: LACCONE, FRANCO
To: MEDICAL UNIVERSITY OF VIENNA
Reel/Frame 037775/0666 →
ASSIGNMENT OF ASSIGNOR'S INTEREST Recorded May 29, 2015
From: CIANI, ELISABETTA; LACCONE, FRANCO
To: UNIVERSITÀ DI BOLOGNA
Reel/Frame 035744/0346 →
ASSIGNMENT OF ASSIGNOR'S INTEREST Recorded May 29, 2015
From: MEDICAL UNIVERSITY OF VIENNA
To: UNIVERSITÀ DI BOLOGNA
Reel/Frame 035744/0488 →