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Compassionate Use of Triheptanoin (C7) for Inherited Disorders of Energy Metabolism

Expanded access is currently available for this treatment.
Verified October 2017 by Gerard Vockley, MD, PhD, University of Pittsburgh
Sponsor:
ClinicalTrials.gov Identifier:
NCT01461304
First Posted: October 28, 2011
Last Update Posted: October 6, 2017
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. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
Collaborator:
Ultragenyx Pharmaceutical Inc
Information provided by (Responsible Party):
Gerard Vockley, MD, PhD, University of Pittsburgh
  Purpose
This is a compassionate use study to allow patients already taking triheptanoin (C7) through previous studies to continue to receive the supplement. It will also allow triheptanoin supplementation in patients with qualifying disorders if they are failing conventional therapy.

Condition Intervention
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

Study Type: Expanded Access     What is Expanded Access?
Official Title: Dietary Therapy for Inherited Disorders of Energy Metabolism

Resource links provided by NLM:


Further study details as provided by Gerard Vockley, MD, PhD, University of Pittsburgh:

Intervention Details:
    Drug: triheptanoin
    subjects will receive a modified diet containing triheptanoin (up to 2 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
Detailed Description:

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, type B, 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), 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.

  Eligibility

Information from the National Library of Medicine

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Ages Eligible for Study:   1 Month and older   (Child, Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Criteria

Inclusion Criteria:

  • Ages 1 month and up
  • Diagnosis of disorder in long chain fatty acid oxidation, glycogen storage disease, pyruvate carboxylase deficiency, type B, 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
  Contacts and Locations
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 ClinicalTrials.gov identifier (NCT number): NCT01461304


Contacts
Contact: Elizabeth McCracken, MS, CGC 412-692-5662

Locations
United States, Pennsylvania
University of Pittsburgh Division of Medical Genetics, Children's Hospital of Pittsburgh
Pittsburgh, Pennsylvania, United States, 15224
Contact: Elizabeth McCracken, MS, CGC       elizabeth.mccracken@chp.edu   
Sponsors and Collaborators
Gerard Vockley, MD, PhD
Ultragenyx Pharmaceutical Inc
Investigators
Principal Investigator: Jerry Vockley, MD, PhD Children's Hospital of Pittsburgh, University of Pittsburgh
  More Information

Responsible Party: Gerard Vockley, MD, PhD, Professor of Pediatrics/Human Genetics, University of Pittsburgh
ClinicalTrials.gov Identifier: NCT01461304     History of Changes
Other Study ID Numbers: PRO08020019
First Submitted: October 25, 2011
First Posted: October 28, 2011
Last Update Posted: October 6, 2017
Last Verified: October 2017

Keywords provided by Gerard Vockley, MD, PhD, University of Pittsburgh:
fatty acid oxidation
triheptanoin
long-chain fatty acid oxidation disorders
LCHADD
VLCADD
CPT1
CPT2
TFP
Glycogen Storage Disorders
GSD
Pyruvate Carboxylase
PC
ACAD9
Barth

Additional relevant MeSH terms:
Disease
Deficiency Diseases
Barth Syndrome
Protein Deficiency
Lipid Metabolism, Inborn Errors
Cardiomyopathies
Rhabdomyolysis
Mitochondrial Myopathies
Glycogen Storage Disease
Metabolism, Inborn Errors
Pyruvate Carboxylase Deficiency Disease
Acidosis
Amino Acid Metabolism, Inborn Errors
Cardiomyopathy, Hypertrophic
Muscle Weakness
Mitochondrial Diseases
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
Metabolic Diseases
Lipid Metabolism Disorders
Muscular Diseases