A Phase 1/2 Open-Label Intrathecal Administration of TSHA-105 to Determine the Safety and Efficacy in Subjects With SLC13A5 Citrate Transporter Disorder Caused by a Mutation in the SLC13A5 Gene.
TESS Research Foundation
Summary
Phase 1/2, open-label study to assess the efficacy and safety of a single lumbar intrathecal administration of TSHA-105 in individuals with SLC13A5 Citrate Transporter Disorder
Description
TSHA-105 is an AAV9-based gene therapy vector that expresses the fully functional form of SLC13A5 under the control of a synthetic promoter. TSHA-105 will be delivered intrathecally and is designed to achieve stable, potentially life-long expression of SLC13A5 protein in non-dividing cells. This clinical study is a pivotal open-label phase 1/2 study designed to assess safety and efficacy of TSHA-105 in individuals with SLC13A5 Citrate Transporter Disorder.
Eligibility
- Age range
- 2–20 years
- Sex
- All
- Healthy volunteers
- No
Inclusion Criteria: * Male and females between the ages of 2 to 9 or 10 to 20 years at the time of screening * Confirmed diagnosis of SLC13A5 citrate transporter disorder by genomic DNA mutation analysis (confirmed by a CLIA certified, CE-marked, or equivalent lab) demonstrating homozygous or compound heterozygous, confirmed pathogenic or likely pathogenic variants in the SLC13A5 gene * Clinical features consistent with SLC13A5 citrate transporter disorder * Written informed consent provided by subject/parent/guardian and willingness to participate and comply with all the study related visits…
Interventions
- DrugTSHA-105
AAV9/SLC13A5
Location
- University of Texas Southwestern Medical CenterDallas, Texas