VOGEL, KARA RAIN,GIBSON, KENNETH MICHAEL,AINSLIE, GARRETT ROBERT
申请号：
CA3092035
公开号：
CA3092035A1
申请日:
2019.02.12
申请国别(地区):
CA
年份:
2019
代理人:
摘要：
Provided herein are compositions and methods for treating succinic semialdehyde dehydrogenase deficiency (SSADHD). Compositions may include a gene encoding a functional succinic semialdehyde dehydrogenase (SSADH) enzyme, such as ALDH5A1, operably linked to a targeting vector. The functional SSADH enzyme is envisioned to lower the levels of circulating gamma-hydroxybutyric acid (GHB) and ?-aminobutyric acid (GABA). In some embodiments, combination therapies are envisioned, comprising administering to the subject therapeutically effective amounts of a combination of a composition comprising a gene encoding a functional SSADH enzyme operably linked to a targeting vector； one or more mTOR inhibitors； and a GABA-T inhibitor. Suitable mTOR inhibitors include rapamycin, while suitable GABA-T inhibitors include vigabatrin.
