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Gene Therapy for SLC13A5 Citrate Transporter Disorder

This study is testing a gene therapy called TSHA-105 for people with SLC13A5 Citrate Transporter Disorder. TSHA-105 is designed to deliver a working copy of the SLC13A5 gene, which is faulty in this condition. Researchers want to see how safe TSHA-105 is and if it helps improve the condition. You might be able to join if you are between 2 and 20 years old and have a confirmed diagnosis of SLC13A5 Citrate Transporter Disorder through genetic testing. The study plans to enroll 8 participants. The main goal is to check the safety of TSHA-105 over 5 years.

Study design
This is a Phase 1/2, open-label study, meaning both you and your doctors will know which treatment you are receiving. It plans to include 8 participants.
What's involved
Not specified in the trial record.
Compensation
Not stated in the trial record.
Follow-up
Your safety and how well the treatment works will be monitored for 5 years.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.

NCT07102524

Intrathecal Gene Therapy For SLC13A5 Citrate Transporter Disorder

Recruiting
PHASE1Ages 2–20InterventionalTreatment
TESS Research Foundation
~8 participants
Updated 2026-06-30 on ClinicalTrials.gov
What's tested:TSHA-105

At a glance

Recruiting sites
1 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Safety and Tolerability
Measured over 5 years

Conditions

SLC13A5 Citrate Transporter Disorder

Explore related trials

SLC13A5 Citrate Transporter DisorderNa(+)/Citrate Cotransporter

NCT07102524

Where you'd take part

This study runs at 1 site. They're the same protocol — you choose where, and that choice sets who your contact draft is addressed to.

  • University of Texas Southwestern Medical Center

    Dallas, Texasstudy coordinator listed

    Recruiting

Sites open and close at different times, so the status above is per site — it can differ from the study's overall status.

Who to contact

Alexandria Silver, RN
[email protected]
214-456-0876
Email the study team

Opens a ready-to-send draft in your own email app — review before sending.

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Add a private profile and we'll compare every criterion below against your situation — and tell you which ones are met, uncertain, or excluding.

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Eligibility criteria

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

Inability to participate in study procedures (as determined by the site investigator)
Presence of a concomitant medical condition that precludes lumbar puncture (LP) or use of anesthetics
History of bleeding disorder or any other medical condition or circumstance in which lumbar puncture is contraindicated according to local institutional policy
Inability to be safely sedated in the opinion of the clinical anesthesiologist
Active infection, at the time of dosing, based on clinical observations
Concomitant illness or requirement for chronic drug treatment that in the opinion of the PI creates unnecessary risks for gene transfer
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
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
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.
Enrollment and participation in another interventional clinical trial
Contraindication to TSHA-105 or any of its ingredients
Contraindication to any of the immune suppression medications used in this 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

What this trial measures

  • Safety and Tolerability5 years

    Safety measured by: * Incidence of AEs/SAEs considered related to TSHA-105 and grade 3 or higher as per the Common Terminology Criteria for Adverse Events through month 24 * Clinical Safety Labs (Chemistry, Hematology, Coagulation, Lipids, Cardiac Safety, Urinalysis), Vital Signs, EKGs, Trans-thoracic Echocardiogram