Clinical trials: Citrate Transporter Deficiency
Glucose Transporter Type 1 Deficiency Syndrome, GLUT1 Deficiency Syndrome
Treatment Development for Glucose Transporter Type I Deficiency Syndrome (G1D)
The purpose of this trial is to determine if an alternative energy source will impact brain metabolism in a disorder characterized by glucose metabolism failure in the brain.
- Trial name
- NCT02018315
- Testing
- Triheptanoin
- Where
- United States
- Volunteers
- 14 people, healthy volunteers welcome
- Sponsor
- Juan Pascual
Citrate Transporter Deficiency, SLC13A5 Gene Mutation
Triheptanoin (UX007) to Treat Citrate Transporter Deficiency
The purpose of this study is to determine whether triheptanoin (UX007) is effective in the treatment of neurological symptoms related to citrate transporter deficiency (SLC13A5 gene mutation).
- Trial name
- NCT02500082
- Testing
- triheptanoin
- Where
- United States
- Sponsor
- Irina A Anselm
SLC13A5 Citrate Transporter Disorder
Intrathecal Gene Therapy For SLC13A5 Citrate Transporter Disorder
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
- Trial name
- SLC13A5 (NCT07102524)
- Testing
- TSHA-105
- Where
- United States
- Volunteers
- 8 people
- Sponsor
- TESS Research Foundation
Citrate Transporter Deficiency, Epilepsy
SLC13A5 Deficiency Natural History Study - Remote Only
SLC13A5 deficiency (Citrate Transporter Disorder, EIEE 25) is a rare genetic disorder with neurodevelopmental delays and seizure onset in the first few days of life.
- Conditions
- Citrate Transporter Deficiency, Epilepsy, Rare Diseases, Movement Disorders
- Trial name
- NCT04681781
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- TESS Research Foundation
Citrate Transporter Deficiency, Epilepsy
SLC13A5 Deficiency Natural History Study - United States Only
SLC13A5 deficiency (Citrate Transporter Disorder, EIEE 25) is a rare genetic disorder with neurodevelopmental delays and seizure onset in the first few days of life.
- Conditions
- Citrate Transporter Deficiency, Epilepsy, Rare Diseases, Movement Disorders
- Trial name
- NCT06144957
- Where
- 3 sites in United States
- Volunteers
- 17 people
- Sponsor
- TESS Research Foundation