Tests TSHA-105 gene therapy for SLC13A5 citrate transporter disorder
Tests TSHA-105, given into the spine, in people with SLC13A5 citrate transporter disorder.
Plain-language title generated from the registry record
Registry title: Intrathecal Gene Therapy For SLC13A5 Citrate Transporter Disorder
Key facts
- Where
- Dallas, United StatesSee the site
- Phase
- Phase 1/2
Could this be for you?
Answer for yourself. This is not a decision: only the study team can say whether you can take part.
- Are you between 2 and 20 years old?
Source: NCT07102524, who can take part
Where in United States
- University of Texas Southwestern Medical CenterDallas, United StatesTaking people
Questions to ask the study team
- How often do I need to come in, and for how long each time?
- Are travel costs paid?
- Can I keep my own doctor?
- What happens if I want to stop?
Trial details
- Who runs it
- TESS Research Foundation
- Trial code
- NCT07102524
- Record updated
- 30 June 2026
- Original description
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 DisorderRead full original descriptionShow less
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.
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
Inclusion: 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 and procedures. Assent provided by children 10 to 17 years old based on their ability to understand the risks and possible benefits, and the activities expected of them; Subjects able to reproduce must use a barrier method of contraception for the first 12 months after dosing as well as at least one additional highly effective birth control method if sexually active.
Exclusion: Presence of a concomitant medical condition that precludes lumbar puncture (LP) or use of anesthetics; Concomitant illness or requirement for chronic drug treatment that in the opinion of the PI creates unnecessary risks for gene transfer; Have received an investigational drug within 30 days prior to screening or plan to receive an investigational drug (other than gene therapy) during the study; Contraindication to any of the immune suppression medications used in this study; History of bleeding disorder or any other medical condition or circumstance in which lumbar puncture is contraindicated according to local institutional policy; Active infection, at the time of dosing, based on clinical observations; The presence of significant non-SLC13A5 related CNS impairment or behavioral disturbances that would confound the scientific rigor or interpretation of results of the study; Clinically significant abnormal laboratory values (hemoglobin < 6 or > 20 g/dL; white blood cell > 20,000 per cmm, platelets count < 100,000 per cmm; INR > ULN; GGT, ALT, and AST or total bilirubin > 2x ULN, creatinine ≥ 1.5 mg/dL) prior to gene replacement therapy; Inability to participate in study procedures (as determined by the site investigator); Inability to be safely sedated in the opinion of the clinical anesthesiologist; Inability of the subject to undergo MRI according to local institutional policy; Inability of the subject to undergo any other procedure required in this study; Enrollment and participation in another interventional clinical trial; Contraindication to TSHA-105 or any of its ingredients.