4-phenylbutyrate restored gaba uptake and reduced seizures in slc6a1 variant-mediated disorders
AssigneeVanderbilt University
InventorJing-Qiong KANG
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Abstract
Described herein are methods for disease or disorder associated with GABA transporter 1 (GAT-1) dysfunction. In one aspect described herein, the disease or disorder is associated with one or more solute carrier Family 6 Member 1 (SLC6A1) mutations, and 4-phenylbutyrate, or the pharmaceutically acceptable salt thereof, is administered at a dose of 75 mg/kg/day to 125 mg/kg/day. In another embodiment, the method comprises combined GAT-1 gene therapy combined with administration of 4-phenylbutyrate.
Claims28
A method for treating a disease or disorder associated with GABA transporter 1 (GAT-1) dysfunction in a subject, the method comprising:
- administering to the subject a therapeutically effective amount of 4-phenylbutyrate, or a pharmaceutically acceptable salt thereof.
A method for treating a disease or disorder associated with one or more solute carrier Family 6 Member 1 (SLC6A1) mutations in a subject, the method comprising:
- administering to the subject a therapeutically effective amount of 4-phenylbutyrate, or a pharmaceutically acceptable salt thereof.
A method for treating a disease or disorder associated with GABA transporter 1 (GAT-1) dysfunction in a subject in need thereof, the method comprising:
- administering to the subject a therapeutically effective amount of 4-phenylbutyrate, or a pharmaceutically acceptable salt thereof;
- and
- administering a therapeutically effective amount of GAT-1 gene therapy comprising a vector configured to augment wildtype GAT-1 expression in the subject in need thereof.
The use of 4-phenylbutyrate, or a pharmaceutically acceptable salt thereof, for the preparation of a medicament for the treatment of a disease or disorder associated with GABA transporter 1 (GAT-1) dysfunction in a subject.
The use of 4-phenylbutyrate, or a pharmaceutically acceptable salt thereof in combination with GAT-1 gene therapy for the preparation of a medicament for the treatment of a disease or disorder associated with GABA transporter 1 (GAT-1) dysfunction in a subject.
Dependencies are inferred from the claim text.