公开(公告)号：US20230158173A1

公开(公告)日：2023-05-25

申请号：US17912690

申请日：2021-03-19

Applicant: UNIVERSITY OF FLORIDA RESEARCH FOUNDATION, INC.

Inventor： Christina A. Pacak ,  Peter B. Kang

IPC: A61K48/00 ,  A61P25/00 ,  C12N9/16

CPC classification number: A61K48/0066 ,  A61P25/00 ,  C12N9/16

Abstract: Provided herein are methods of treating a subject with Cockayne Syndrome (CS) or a predisposition thereto. Also provided are methods of treating a subject with one or more mutations in an ERCC5 gene, an ERCC8 gene, an ERCC6 gene, or a combination thereof, methods of delaying the onset of Cockayne Syndrome (CS), or a symptom thereof, in a subject with one or more mutations in an ERCC5 gene, an ERCC8 gene, an ERCC6 gene, or a combination thereof, and methods of slowing, halting or reversing progression of Cockayne Syndrome (CS) in a subject. In exemplary embodiments, the method comprises administering to the subject a replication-incompetent Adeno-associated Vims (riAAV) comprising a nucleotide sequence encoding a Xeroderma Pigmentosum group G (XPG) protein, a Cockayne Syndrome type A (CSA) protein, or a Cockayne Syndrome type B (CSB) protein in an effective amount. Provided herein are related Adeno-associated Virus and cells comprising the same.