Intrathecal Gene Therapy For SLC13A5 Citrate Transporter Disorder

NCT07102524 | Not Yet Recruiting Phase 1 DMC FDA Drug

• 2 other identifiers: SLC13A5 Gene TherapyAAV9/SLC13A5
• Study Type: interventional
• Target: 2
• Locations: 1 country
• Sites: 1

Brief 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

Conditions

SLC13A5 Citrate Transporter Disorder

Keywords

SLC13A5; AAV9; Epileptic Encephalopathy; SLC13A5 Deficiency; SLC13A5 Citrate Transporter Disorder

Outcome Measures

Primary Outcomes (1)

• Safety and Tolerability

  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

  5 years

Secondary Outcomes (10)

• Peabody Developmental Motor Scales, 2nd Edition

  5 Years

• Mullens Scales of Early Learning

  5 Years

• SLC13A5 Deficiency Movement Assessment Scale

  5 years

• Vineland Adaptive Behavior Scale, 3rd Edition

  5 years

• PedsQL Family Impact Module

  5 years

Study Arms (1)

TSHA-105 treament

EXPERIMENTAL

TSHA-105 Treatment

Drug: TSHA-105

Interventions

TSHA-105 DRUG

AAV9/SLC13A5

TSHA-105 treament

Eligibility Criteria

• Age: 2 Years - 20 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)

You may qualify if:

• Male and females between the ages of 2 to 9 and 10 to 20 years at the time of screening
• Confirmed diagnosis of SLC13A5 citrate transporter disorder by genomic DNA mutation analysis demonstrating homozygous or compound heterozygous, confirmed 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

You may not qualify if:

• 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

Sponsors & Collaborators

• TESS Research Foundation: lead

Study Sites (1)

University of Texas Southwestern Medical Center

Dallas, Texas, 75390-7208, United States

Location

Central Study Contacts

Tanya L Brown, Ph.D

CONTACT

(650)521-2279; tanya@tessfoundation.org

Souad Messahel, PhD

CONTACT

souad@elpidatx.com

Study Design

• Study Type: interventional
• Phase: phase 1
• Allocation: NA
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: July 21, 2025
• First Posted: August 3, 2025
• Study Start: December 1, 2025
• Primary Completion (Estimated): December 1, 2030
• Study Completion (Estimated): June 1, 2031
• Last Updated: August 14, 2025

Record last verified: 2025-07

Data Sharing

• IPD Sharing: Will share
• Shared Documents: STUDY PROTOCOL
• Time Frame: 5 years

Locations

US (1)