Clinical trials: SLC13A5 Deficiency
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
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, 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