IP Library Granted Patent US 12,662,512
Granted Patent B2
US 12,662,512 · App. 17/770,641 · Granted Jun 23, 2026

Chimeric polypeptides and uses thereof

Inventors: Pasqualina Colella (Naples, IT); Francesco Puzzo (Roggiano Gravina, IT); Federico Mingozzi (Philadelphia, PA)
Assignees: GENETHON; UNIVERSITE D'EVRY VAL D'ESSONNE; INSERM (INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE); SORBONNE UNIVERSITE
C07K7/083A61P3/00C12N15/86
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Quick Facts
Patent No.
US 12,662,512
App. No.
17/770,641
Granted
Jun 23, 2026
Kind
B2
Abstract

The present invention relates to a nucleic acid molecule encoding a chimeric polypeptide comprising a peptide of interest fused to one or more heterologous moieties, wherein at least one of the heterologous moieties is a ligand of the Sortilin receptor. The invention also relates to a chimeric polypeptide encoded by said nucleic acid molecule and uses thereof.

Claims (14)

1 . A nucleic acid molecule encoding a chimeric polypeptide comprising a peptide of interest fused to one or more heterologous moieties, wherein at least one of the heterologous moieties is a ligand of the Sortilin receptor, and said heterologous moiety is

a Spadin peptide encoded by the nucleotide sequence of SEQ ID NO: 14 or by a nucleotide sequence having at least 85% identity to the nucleotide sequence of SEQ ID NO: 14.

2 . The nucleic acid molecule according to claim 1 , wherein the peptide of interest is a functional GAA polypeptide encoded by a nucleotide sequence selected from the group consisting of SEQ ID NOs: 1-3 or by a nucleotide sequence having at least 85% identity to a nucleotide sequence selected from the group consisting of SEQ ID NOs: 1-3.

3 . The nucleic acid molecule according to claim 1 , wherein the peptide of interest is a functional truncated GAA polypeptide.

4 . The nucleic acid molecule according to claim 1 , wherein the heterologous moiety is fused at the N-terminal end of the peptide of interest.

5 . The nucleic acid molecule according to claim 1 , further comprising a signal peptide having an amino acid sequence selected from the group consisting of SEQ ID NOs: 18-22.

6 . A nucleic acid construct comprising the nucleic acid molecule according to claim 1 operably linked to a promoter, wherein said nucleic acid construct optionally further comprises an intron.

7 . The nucleic acid construct according to claim 6 , comprising: a promoter; an intron; the nucleic acid molecule; and a polyadenylation signal.

8 . A viral vector comprising the nucleic acid molecule of claim 1 or a nucleic acid construct thereof.

9 . The vector according to claim 8 , which is a single-stranded or double-stranded self-complementary AAV vector.

10 . An isolated cell transformed with the nucleic acid molecule according to claim 1 or a nucleic acid construct comprising said nucleic acid molecule or a vector comprising said nucleic acid construct or said nucleic acid molecule.

11 . A chimeric polypeptide encoded by the nucleic acid molecule according to claim 1 .

12 . A pharmaceutical composition, comprising, in a pharmaceutically acceptable carrier, the nucleic acid molecule according to claim 1 , a nucleic acid construct comprising said nucleic acid molecule, a vector comprising said nucleic acid construct or said nucleic acid molecule, a cell comprising said nucleic acid molecule, nucleic acid construct or said vector, or a chimeric polypeptide encoded by said nucleic acid molecule.

13 . A method of treating GSD II (Pompe disease) comprising the administration of a pharmaceutical composition according to claim 12 to a subject in need of treatment, wherein the nucleic acid molecule encoding the chimeric polypeptide comprises a nucleic acid sequence encoding a functional GAA polypeptide, said nucleic acid sequence being selected from the group consisting of SEQ ID NOs: 1-3 or by a nucleotide sequence having at least 85% identity to a nucleotide sequence selected from the group consisting of SEQ ID NOs: 1-3.