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Trial record 17 of 76 for:    Long-chain fatty acids

Triheptanoin (UX007) to Treat Citrate Transporter Deficiency

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT02500082
Expanded Access Status : No longer available
First Posted : July 16, 2015
Last Update Posted : January 28, 2016
Information provided by (Responsible Party):
Irina A Anselm, Boston Children’s Hospital

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).

Condition or disease Intervention/treatment
Citrate Transporter Deficiency SLC13A5 Gene Mutation Drug: triheptanoin

Detailed Description:

This compassionate use research study has been developed to study an investigational drug, triheptanoin (UX007), for the treatment of neurological symptoms related to citrate transporter deficiency, a disease with no existing treatment. The hypothesis is that triheptanoin will restore deficient energy metabolism in these patients, leading to improved seizure control, mental clarity, and physical strength.

Based on the literature, the SLC13A5 gene product is a citrate transporter. However, there is the possibility that other compounds are transported as well. The gene may be expressed in human neurons and function at the level of the plasma membrane. The hypothesis is that the transport of citrate across the plasma membrane from the extracellular space into the cytoplasm plays a role in maintaining the pool size of citrate in both the cytoplasm and mitochondrial matrix. Triheptanoin therapy may increase the metabolism of odd-chain fatty acids in neuronal mitochondria and thereby increase the levels of succinyl-CoA, leading to an increase in citrate concentrations. The increased level of citrate in the mitochondrial matrix may lead to an increased efflux of citrate from the matrix to the cytoplasm, thus increasing the cytoplasmic pool of citrate and allowing the malfunctioning citrate transporter to be bypassed. If successful, triheptanoin treatment will improve neuronal function and lead to an improvement in CNS function for patients.

While investigators will follow the course of subjects with considerable interest and may use some of the collected data for clinical research, this study is done for humanitarian reasons.

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Study Type : Expanded Access
Official Title: Compassionate Use of Triheptanoin (UX007) to Treat Citrate Transporter Deficiency

Resource links provided by the National Library of Medicine

Intervention Details:
  • Drug: triheptanoin
    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.
    Other Name: UX007

Information from the National Library of Medicine

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Ages Eligible for Study:   4 Years to 9 Years   (Child)
Sexes Eligible for Study:   All

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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT02500082

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United States, Massachusetts
Department of Neurology, Boston Children's Hospital
Boston, Massachusetts, United States, 02115
Sponsors and Collaborators
Irina A Anselm
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Principal Investigator: Irina A Anselm, MD Boston Children’s Hospital

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Responsible Party: Irina A Anselm, Assistant in Neurology, Boston Children’s Hospital Identifier: NCT02500082     History of Changes
Other Study ID Numbers: IRB-P00017250
First Posted: July 16, 2015    Key Record Dates
Last Update Posted: January 28, 2016
Last Verified: January 2016

Keywords provided by Irina A Anselm, Boston Children’s Hospital:
citrate transporter deficiency
SLC13A5 gene
citric acid cycle
energy metabolism

Additional relevant MeSH terms:
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Citric Acid
Sodium Citrate
Calcium Chelating Agents
Chelating Agents
Sequestering Agents
Molecular Mechanisms of Pharmacological Action