Triheptanoin (UX007) to Treat Citrate Transporter Deficiency

NCT02500082 | Unknown

• 1 other identifier: IRB-P00017250
• Study Type: expanded_access
• Target: N/A
• Locations: 1 country
• Sites: 1

Brief 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).

Conditions

Citrate Transporter Deficiency; SLC13A5 Gene Mutation

Keywords

citrate transporter deficiency; SLC13A5 gene; citric acid cycle; energy metabolism

Interventions

triheptanoin DRUG

Triheptanoin (UX007) is a medium chain triglyceride of three seven-carbon fatty acids (C7), on a glycerol backbone, with a molecular formula of C24H44O6. It is being evaluated as a substrate replacement therapy for the treatment of long-chain fatty acid oxidation disorders (LC-FAOD) and for the treatment of seizures associated with Glut 1 DS. Triheptanoin is metabolized to provide substrate replacement for both fatty acid metabolism and anaplerosis (replacement of TCA cycle intermediates) required to restore the efficient generation of energy and the net production of glucose in patients. The mechanism of action of triheptanoin in restoring energy metabolism is dependent on its medium-chain length as well as its odd-carbon properties. Triheptanoin is a highly purified form intended for oral administration.

Also known as: UX007

Eligibility Criteria

• Age: 4 Years - 9 Years
• Sex: all
• Age Groups: Child (0-17)

You may qualify if:

• Diagnosis of citrate transporter deficiency due to mutations in the SLC13A5 gene.
• Presentation with severe global developmental delay and seizures.

You may not qualify if:

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

Sponsors & Collaborators

• Irina A Anselm: lead

Study Sites (1)

Department of Neurology, Boston Children's Hospital

Boston, Massachusetts, 02115, United States

Location

Related Publications (3)

• Johannessen CU, Petersen D, Fonnum F, Hassel B. The acute effect of valproate on cerebral energy metabolism in mice. Epilepsy Res. 2001 Dec;47(3):247-56. doi: 10.1016/s0920-1211(01)00308-4.

  PMID: 11738932 BACKGROUND

• Pascual JM, Liu P, Mao D, Kelly DI, Hernandez A, Sheng M, Good LB, Ma Q, Marin-Valencia I, Zhang X, Park JY, Hynan LS, Stavinoha P, Roe CR, Lu H. Triheptanoin for glucose transporter type I deficiency (G1D): modulation of human ictogenesis, cerebral metabolic rate, and cognitive indices by a food supplement. JAMA Neurol. 2014 Oct;71(10):1255-65. doi: 10.1001/jamaneurol.2014.1584.

  PMID: 25110966 BACKGROUND

• Thevenon J, Milh M, Feillet F, St-Onge J, Duffourd Y, Juge C, Roubertie A, Heron D, Mignot C, Raffo E, Isidor B, Wahlen S, Sanlaville D, Villeneuve N, Darmency-Stamboul V, Toutain A, Lefebvre M, Chouchane M, Huet F, Lafon A, de Saint Martin A, Lesca G, El Chehadeh S, Thauvin-Robinet C, Masurel-Paulet A, Odent S, Villard L, Philippe C, Faivre L, Riviere JB. Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life. Am J Hum Genet. 2014 Jul 3;95(1):113-20. doi: 10.1016/j.ajhg.2014.06.006.

  PMID: 24995870 BACKGROUND

MeSH Terms

Interventions

triheptanoin

Study Officials

• Irina A Anselm, MD

  Boston Children's Hospital

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: expanded access
• Sponsor Type: OTHER
• Responsible Party: SPONSOR INVESTIGATOR
• PI Title: Assistant in Neurology

Study Record Dates

• First Submitted: July 14, 2015
• First Posted: July 16, 2015
• Last Updated: January 28, 2016

Record last verified: 2016-01

Locations

US (1)