SLC13A5 Citrate Transporter DisorderPhase 1/2SLC13A5NCT07102524
Intrathecal Gene Therapy For SLC13A5 Citrate Transporter Disorder
A Phase 1/2 study testing TSHA-105 in people with SLC13A5 Citrate Transporter Disorder, run by TESS Research Foundation at 1 site in United States.
Trial 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 Read more about this study
- Who is it for?
- Ages 2 to 20 years
- Conditions the study is for
- SLC13A5 Citrate Transporter Disorder
- What is being tested?
- TSHA-105
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 8 participants
- Where
- 1 siteUnited States
- Study dates
- 15 Jul 2026to 1 Jun 2031
- Phase
- Phase 1/2
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 2 to 20 years
- All sexes
- No healthy volunteers
- Child, Adult
Who may be able to join
- 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
Who cannot join
- 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
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- 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
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Holly Lawrence contact
United States1 site, 1 recruiting
- Recruiting
University of Texas Southwestern Medical Center
Dallas, Texas, 75390-7208
Alexandria Silver, RN, 214-456-0876, Alexandria.Silver@UTSouthwestern.edu
Dallas Armstrong, MD
About this study
Official title: 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
Read the detailed 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.
- Conditions
- SLC13A5 Citrate Transporter Disorder
- Being tested
- TSHA-105
- Keywords
- SLC13A5, AAV9, Epileptic Encephalopathy, SLC13A5 Deficiency, SLC13A5 Citrate Transporter Disorder
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
TSHA-105Drug
AAV9/SLC13A5
| Study group | Role | What they receive |
|---|---|---|
| TSHA-105 treament | Experimental | TSHA-105 Treatment Receives: Drug: TSHA-105 |
What is being measured
The primary outcome is the main question the study is designed to answer.
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
Measured: 5 years
Secondary outcomes (10)
Peabody Developmental Motor Scales, 2nd Edition
Assesses fine and gross motor skills in children from birth to 5 years.
Subtests include reflexes, locomotion, object manipulation, grasping, and visual-motor integration.
Measured: 5 Years
Mullens Scales of Early Learning
Evaluates cognitive and motor development in children from birth to 68 months.
Measures visual reception, fine motor, expressive language, and receptive language.
Measured: 5 Years
SLC13A5 Deficiency Movement Assessment Scale
A disease-specific tool developed to evaluate motor function and movement abnormalities in children with SLC13A5 deficiency
Measured: 5 years
Vineland Adaptive Behavior Scale, 3rd Edition
Measures adaptive behaviors including communication, daily living skills, socialization, and motor skills.
Measured: 5 years
PedsQL Family Impact Module
Measures the impact of pediatric chronic health conditions on parents and families.
Focuses on emotional, social, and cognitive functioning, as well as communication and worry.
Measured: 5 years
PedsQL Epilepsy Module
A disease-specific quality-of-life tool designed for children with epilepsy.
Assesses cognitive functioning, worry, impact, and communication.
Measured: 5 Years
Seizure Diary
A caregiver-completed log for tracking seizure frequency, duration, type, and possible triggers.
For evaluating treatment response and seizure patterns.
Measured: 5 years
Physician Clinical Global Impression (CGI)
A clinician-rated scale that evaluates illness severity and improvement over time.
Measured: 5 years
Parent-Assessed Clinical Global Impression (PGI)
A caregiver's subjective assessment of the child's overall functioning and response to treatment
Measured: 5 years
Sleep Disturbance Scale for Children
A parent-reported tool for assessing sleep problems in children aged 6.5-15 years.
Evaluates disorders like insomnia, sleep-disordered breathing, and excessive somnolence
Measured: 5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted3 Aug 2025
- Study start15 Jul 2026 (estimated)
- Primary completion1 Dec 2030 (estimated)
- Study completion1 Jun 2031 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for SLC13A5 Citrate Transporter DisorderStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase 1/2
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 8 participants (estimated)
Sponsor and investigators
- Lead sponsor
- TESS Research Foundation
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07102524
- Sponsor's protocol ID
- SLC13A5 Gene Therapy
- Other IDs
- AAV9/SLC13A5
- Acronym
- SLC13A5
- Status last verified
- Jun 2026
- First submitted
- 21 Jul 2025
- Last updated
- 30 Jun 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
- Individual data sharing
- Yes: Essential documents
Study at a glance
From the registry record, last updated by the sponsor on 30 Jun 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- 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.
- ClinicalTrials.gov ID
- NCT07102524
- Acronym / sponsor ID
- SLC13A5 / SLC13A5 Gene Therapy
- Conditions
- SLC13A5 Citrate Transporter Disorder
- Keywords
- SLC13A5, AAV9, Epileptic Encephalopathy, SLC13A5 Deficiency, SLC13A5 Citrate Transporter Disorder
- Phase
- Phase 1/2
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 8 participants (estimated)
- Lead sponsor
- TESS Research FoundationUniversity, hospital or other
- Study start
- 15 Jul 2026 (estimated)
- Primary completion
- 1 Dec 2030 (estimated)
- Study completion
- 1 Jun 2031 (estimated)
- First posted
- 3 Aug 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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
Detailed 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.
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| TSHA-105 treament | Experimental | Drug: TSHA-105TSHA-105 Treatment |
Who may qualify
- Ages
- 2 to 20 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
Key inclusion criteria (5 listed)
- 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
Key exclusion criteria (14 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| TSHA-105AAV9/SLC13A5 | Drug | TSHA-105 treament |
Primary outcome
Safety and Tolerability
Time frame: 5 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
10 secondary outcomes
Peabody Developmental Motor Scales, 2nd Edition
Time frame: 5 Years
Mullens Scales of Early Learning
Time frame: 5 Years
SLC13A5 Deficiency Movement Assessment Scale
Time frame: 5 years
Vineland Adaptive Behavior Scale, 3rd Edition
Time frame: 5 years
PedsQL Family Impact Module
Time frame: 5 years
PedsQL Epilepsy Module
Time frame: 5 Years
Seizure Diary
Time frame: 5 years
Physician Clinical Global Impression (CGI)
Time frame: 5 years
Parent-Assessed Clinical Global Impression (PGI)
Time frame: 5 years
Sleep Disturbance Scale for Children
Time frame: 5 years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 30 Jun 2026.
- Individual participant dataSharing planned: Yes. Essential documents
Related trials for SLC13A5 Citrate Transporter Disorder
Enrolling by invitationObservational study
SLC13A5 Deficiency Natural History Study - United States Only
Citrate Transporter Deficiency, Epilepsy
Enrolling by invitationObservational study
SLC13A5 Deficiency Natural History Study - Remote Only
Citrate Transporter Deficiency, Epilepsy
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Holly Lawrence contact
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 1/2 study testing TSHA-105 in people with SLC13A5 Citrate Transporter Disorder, run by TESS Research Foundation at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 14 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 30 Jun 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
What does this combined phase mean?
Phase 1 studies test a treatment in a small group of people for the first time or in a new way, mainly to check safety and find the right dose.
Phase 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Alexandria Silver, RN (214-456-0876, Alexandria.Silver@UTSouthwestern.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Safety and Tolerability (time frame: 5 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 30 Jun 2026.