Compassionate Use of Triheptanoin (C7) for Inherited Disorders of Energy Metabolism
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| ClinicalTrials.gov Identifier: NCT01461304 |
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Expanded Access Status :
No longer available
First Posted : October 28, 2011
Last Update Posted : December 10, 2021
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| Condition or disease | Intervention/treatment |
|---|---|
| Very Long-chain acylCoA Dehydrogenase (VLCAD) Deficiency Carnitine Palmitoyltransferase Deficiencies (CPT1, CPT2) Mitochondrial Trifunctional Protein Deficiency Long-chain Hydroxyacyl-CoA Dehydrogenase Deficiency Glycogen Storage Disorders Pyruvate Carboxylase Deficiency Disease ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9, DEFICIENCY of Barth Syndrome | Drug: triheptanoin |
This study will treat children and adults who have documented deficiencies of mitochondrial fatty acid oxidation including disorders of the following enzymes: Carnitine-Acylcarnitine Translocase (CATR), Carnitine Palmitoyltransferase I and II (CPT I, CPT II), Very-Long Chain Acyl-CoA dehydrogenase (VLCAD), L-3-Hydroxy-Acyl-CoA Dehydrogenase (LCHAD), Acyl-CoA Dehydrogenase type 9 (ACAD9) and Mitochondrial Trifunctional Protein (TFP) with triheptanoin oil. This study is also open to patients with any type of glycogen storage disease, pyruvate carboxylase deficiency, or Barth Syndrome.
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.
| Study Type : | Expanded Access |
| Official Title: | Dietary Therapy for Inherited Disorders of Energy Metabolism |
- Drug: 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 Name: C7
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| Ages Eligible for Study: | 1 Month and older (Child, Adult, Older Adult) |
| Sexes Eligible for Study: | All |
| Accepts Healthy Volunteers: | No |
Inclusion Criteria:
- Ages 1 month and up
- 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:
- Pregnant females
- MCAD deficiency
- disorder of short and medium chain fatty acid oxidation or ketone body metabolism
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 ClinicalTrials.gov identifier (NCT number): NCT01461304
| United States, Pennsylvania | |
| University of Pittsburgh Division of Medical Genetics, Children's Hospital of Pittsburgh | |
| Pittsburgh, Pennsylvania, United States, 15224 | |
| Principal Investigator: | Jerry Vockley, MD, PhD | Children's Hospital of Pittsburgh, University of Pittsburgh |
| Responsible Party: | Jerry Vockley, MD, PhD, Professor of Pediatrics/Human Genetics, University of Pittsburgh |
| ClinicalTrials.gov Identifier: | NCT01461304 |
| Other Study ID Numbers: |
PRO08020019 |
| First Posted: | October 28, 2011 Key Record Dates |
| Last Update Posted: | December 10, 2021 |
| Last Verified: | December 2021 |
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fatty acid oxidation triheptanoin long-chain fatty acid oxidation disorders LCHADD VLCADD CPT1 CPT2 |
TFP Glycogen Storage Disorders GSD Pyruvate Carboxylase PC ACAD9 Barth |
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Pyruvate Carboxylase Deficiency Disease Barth Syndrome Glycogen Storage Disease Deficiency Diseases Protein Deficiency Disease Pathologic Processes Malnutrition Nutrition Disorders Heart Defects, Congenital Cardiovascular Abnormalities Cardiovascular Diseases Heart Diseases Abnormalities, Multiple Congenital Abnormalities |
Genetic Diseases, X-Linked Genetic Diseases, Inborn Lipid Metabolism, Inborn Errors Metabolism, Inborn Errors Lipid Metabolism Disorders Metabolic Diseases Nervous System Diseases Mitochondrial Diseases Carbohydrate Metabolism, Inborn Errors Brain Diseases, Metabolic, Inborn Brain Diseases, Metabolic Brain Diseases Central Nervous System Diseases Pyruvate Metabolism, Inborn Errors |