US 12,637,668 B2Granted

Mini-GDE for the treatment of glycogen storage disease III

AssigneesGenethon, Institut National de la Sante et de la Recherche Medicale, Sorbonne Universite, Universite D'Evry—Val D'Essone, Association Institut De Myologie

InventorsGiuseppe Ronzitti, Patrice Vidal, Federico Mingozzi

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Abstract

The present invention relates to a mini-glycogen debranching enzyme ((GDE); mini-GDE) for the treatment of glycogen storage disease III (GSDIII (Cori disease). Also disclosed are functional truncated human GDE polypeptides, functional non-human GDE polypeptides, nucleic acid molecules, nucleic acid constructs, or vectors encoding functional truncated human GDE or non-human GDE polypeptides as well as host cells expressing functional truncated human GDE or non-human GDE polypeptides. In a further aspect, the disclosure provides functional truncated human GDE polypeptides, functional non-human GDE polypeptides, nucleic acid molecules, nucleic acid constructs, vectors, or cells of the invention for use in a method for treating GSDIII (Cori disease).

Claims18

Dependent claims

A nucleic acid molecule encoding a functional truncated human glycogen debranching enzyme (GDE) polypeptide, said truncated human GDE polypeptide consisting of one or more of the following combination of deletions relative to SEQ ID NO:

1:
a deletion of at least 15, at least 50 or at least 100 consecutive amino acids and at most 156 consecutive amino acids, from its N-terminal end with respect to SEQ ID NO:1;
and/or
a deletion of amino acids from position 1 to position 280 with respect to SEQ ID NO:1;
and/or
a deletion of amino acids from position 223 to position 320 with respect to SEQ ID NO:1;
and/or
a deletion of amino acids from position 360 to position 428 with respect to SEQ ID NO:1;
and/or
a deletion of amino acids from position 361 to 428 with respect to SEQ ID NO:1;
and/or
a deletion of amino acids from position 668 to position 769 with respect to SEQ ID NO:1;
and/or
a deletion of amino acids from position 669 to position 720 with respect to SEQ ID NO:1;
and/or
a deletion of amino acids from position 895 to position 1087 with respect to SEQ ID NO:
1.

14 more elements

Dependencies are inferred from the claim text.