Compositions and methods for treating pompe disease
AssigneeAvroBio, Inc.
InventorsChris MASON, Nico Peter VAN TIL
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Abstract
Described herein are compositions and methods for treating a subject having or at risk of developing Pompe disease. For example, using the compositions and methods of the disclosure, a subject having or at risk of developing Pompe disease may be administered one or more cells that contain a transgene encoding acid-alpha glucosidase (GAA) fused to a glycosylation independent lysosomal targeting (GILT) tag (GILT. GAA), wherein the GILT tag is a human insulin-like growth factor II (IGF-II) mutein containing an Ala amino acid substitution at a position corresponding to Arg37 of SEQ ID NO: 15, such as a population of CD34+ hematopoietic stem or progenitor cells that express GILT. GAA, thereby treating or preventing Pompe disease.
Claims117
A method of treating Pompe disease in a subject, the method comprising administering to the subject a composition comprising a population of cells comprising a transgene encoding an acid alpha-glucosidase (GAA) protein fused to a glycosylation-independent lysosomal targeting (GILT) tag (GILT.GAA protein), wherein the GILT tag comprises a human insulin-like growth factor II (IGF-II) mutein comprising an Ala amino acid substitution at a position corresponding to Arg 37 of SEQ ID NO:
- 15.
A method of improving muscle function in a subject diagnosed as having Pompe disease, the method comprising administering to the subject a composition comprising a population of cells comprising a transgene encoding a GILT.GAA protein, wherein the GILT tag comprises an IGF-II mutein comprising an Ala amino acid substitution at a position corresponding to Arg 37 of SEQ ID NO:
- 15.
A method of reducing glycogen accumulation in a subject diagnosed as having Pompe disease, the method comprising administering to the subject a composition comprising a population of cells comprising a transgene encoding a GILT.GAA protein, wherein the GILT tag comprises an IGF-II mutein comprising an Ala amino acid substitution at a position corresponding to Arg 37 of SEQ ID NO:
- 15.
A method of improving pulmonary function in a subject diagnosed as having Pompe disease, the method comprising administering to the subject a composition comprising a population of cells comprising a transgene encoding GILT.GAA protein, wherein the GILT tag comprises an IGF-II mutein comprising an Ala amino acid substitution at a position corresponding to Arg 37 of SEQ ID NO:
- 15.
A method of increasing GAA expression in a subject diagnosed as having Pompe disease, the method comprising administering to the subject a composition comprising a population of cells comprising a transgene encoding a GILT.GAA protein, wherein the GILT tag comprises an IGF-II mutein comprising an Ala amino acid substitution at a position corresponding to Arg 37 of SEQ ID NO:
- 15.
A composition comprising a population of cells that express a transgene encoding a GAA protein fused to a GILT tag (GILT.GAA protein), wherein the GILT tag comprises an IGF-II mutein comprising an Ala amino acid substitution at a position corresponding to Arg37 of SEQ ID NO:
- 15.
Dependencies are inferred from the claim text.