Compassionate Use of Triheptanoin (C7) for Inherited Disorders of Energy Metabolism
NCT ID: NCT01461304
Last Updated: 2021-12-10
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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Brief Summary
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Detailed Description
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Symptoms often persist with standard diet including supplementation with medium chain triglyceride oil. Preliminary data shows triheptanoin to reverse many of the clinical symptoms not well controlled by standard diet.
On study entry, clinical and laboratory assessments will be carried out with the subject on their usual home diet. A complete history and physical exam will be performed. An echocardiogram must be obtained within the past year or it will be performed on the day of study entry. Following analysis of their diet and a negative pregnancy test, subjects will receive a modified diet containing triheptanoin (up to 2 grams/kg/24 hours for most subjects; subjects who experience cardiomyopathy may receive doses up to 4 grams/kg/24 hours), or continued on their previously established triheptanoin dose; not to exceed RDA for fat, substituted for their MCT oil and/or natural fat. This will be given by g-tube or orally divided into 2 or more doses. The dose will be adjusted on the basis of safety laboratory monitoring at specific time points and for adverse symptoms. The remainder of their diet will be modified to maintain appropriate caloric intake and balance. Total calories appropriate for RDA will be prescribed.
Study subjects will continue the triheptanoin-supplemented diet for a period of 12 months and then be able to continue into an indefinite extension phase in this compassionate use study. Laboratory evaluations will take place at two, six, and twelve months, as well as every 12 months in the extension phase. Laboratory tests may be completed at a local lab and the results forwarded to the PI for review between visits in Pittsburgh. Patients will monitor their weight at home on a monthly basis. Interim metabolic evaluations will be arranged as needed on a clinical basis with the study PI or the subject's home metabolic physician. Following the initial 12 months of the protocol, subjects will be placed on a continuing schedule for maintenance of triheptanoin therapy with a yearly follow up visit for an undeterminable period of time. Echocardiograms must be completed on an annual basis and sent to the study PI to review.
Travel to Pittsburgh, PA at the start of the study and annually is the responsibility of the subjects. Additionally, there may be study costs that insurance will not cover and subjects will be responsible for covering them. Examples of out-of-pocket study costs subjects may incur in addition to travel expenses including the following: necessary laboratory testing and echocardiograms. The study medication will be provided free of charge.
Conditions
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Keywords
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Interventions
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triheptanoin
subjects will receive a modified diet containing triheptanoin (up to 2 grams/kg/24 hours; subjects who experience cardiomyopathy may receive doses up to 4 grams/kg/24 hours), or continued on their previously established triheptanoin dose; not to exceed RDA for fat, substituted for their MCT oil and/or natural fat. Study subjects will continue the triheptanoin-supplemented diet for a period of 12 months and then be able to continue into an indefinite extension phase in this compassionate use study. Laboratory evaluations will take place at two, six, and twelve months as well as every 12 months in the extension phase.
Other Intervention Names
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Eligibility Criteria
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Inclusion Criteria
* Diagnosis of disorder in long chain fatty acid oxidation, glycogen storage disease, pyruvate carboxylase deficiency, or Barth Syndrome
* Currently receiving triheptanoin as result of participation in previous study will be eligible if they have one of the included diagnoses
* Prefer 2 of following 3: acylcarnitine profile, fibroblast acylcarnitine profile or positive medical genetic test
Exclusion Criteria
* MCAD deficiency
* disorder of short and medium chain fatty acid oxidation or ketone body metabolism
1 Month
ALL
No
Sponsors
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Ultragenyx Pharmaceutical Inc
INDUSTRY
Jerry Vockley, MD, PhD
OTHER
Responsible Party
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Jerry Vockley, MD, PhD
Professor of Pediatrics/Human Genetics
Principal Investigators
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Jerry Vockley, MD, PhD
Role: PRINCIPAL_INVESTIGATOR
Children's Hospital of Pittsburgh, University of Pittsburgh
Locations
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University of Pittsburgh Division of Medical Genetics, Children's Hospital of Pittsburgh
Pittsburgh, Pennsylvania, United States
Countries
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Other Identifiers
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PRO08020019
Identifier Type: -
Identifier Source: org_study_id