NO_LONGER_AVAILABLENot Applicable

Triheptanoin (UX007) to Treat Citrate Transporter Deficiency

United States

Plain-language 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).

Who can participate

Age range4 Years – 9 Years

SexALL

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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.

Trial details

NCT IDNCT02500082

SponsorIrina A Anselm

Sponsor typeOTHER

Study typeEXPANDED_ACCESS

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