Triheptanoin (UX007) to Treat Citrate Transporter Deficiency

• Status: No longer available
• Trial end date: 1969-12-31
• Target enrollment: 0
• Participant gender: All

Summary

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).

Details

• Lead Sponsor: Irina A Anselm
• Treatments: Citric Acid

Criteria

Inclusion Criteria:

• Diagnosis of citrate transporter deficiency due to mutations in the SLC13A5 gene.

• Presentation with severe global developmental delay and seizures.

Exclusion Criteria:

• Valproate is an AED that partially inhibits the TCA cycle via alpha-ketoglutarate dehydrogenase and should not be administered to subjects taking UX007.