公开(公告)号：US20240279679A1

公开(公告)日：2024-08-22

申请号：US18170296

申请日：2023-02-16

Applicant: The University of Hong Kong

Inventor： Martin Cheung ,  Tianyuan Shi ,  Jessica Aijia Liu

IPC: C12N15/86 ,  A61P21/00 ,  C12N15/11

CPC classification number: C12N15/86 ,  A61P21/00 ,  C12N15/11 ,  C12N2750/00043

Abstract: It has been discovered that overexpression of DLC1-i1 partly rescues neuronal formation and apoptosis of neuromuscular cells in subjects with spinal muscular atrophy (SMA). Since loss of DLC1-i1 confers specific MN defects in SMA, compositions and methods thereof for the treatment of SMA by delivery of AAV-SYN-DLC1-i1 into the neuronal population of subject with SMA are provided. The methods improve survival and restore locomotion ability to a greater extent than that of commercially-available compositions and methods. Methods including administration of both DLC1-i1 and SMN1 transgenes provide synergistic effects in improving the survival and enhancing locomotion ability in subject with SMA.