NCT01461304

Brief Summary

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.

Trial Health

55
Monitor

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Geographic Reach
1 country

1 active site

Status
unknown

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

October 25, 2011

Completed
3 days until next milestone

First Posted

Study publicly available on registry

October 28, 2011

Completed
Last Updated

December 10, 2021

Status Verified

December 1, 2021

First QC Date

October 25, 2011

Last Update Submit

December 8, 2021

Conditions

Very Long-chain acylCoA Dehydrogenase (VLCAD) DeficiencyCarnitine Palmitoyltransferase Deficiencies (CPT1, CPT2)Mitochondrial Trifunctional Protein DeficiencyLong-chain Hydroxyacyl-CoA Dehydrogenase DeficiencyGlycogen Storage DisordersPyruvate Carboxylase Deficiency DiseaseACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9, DEFICIENCY ofBarth Syndrome

Keywords

fatty acid oxidationtriheptanoinlong-chain fatty acid oxidation disordersLCHADDVLCADDCPT1CPT2TFPGlycogen Storage DisordersGSDPyruvate CarboxylasePCACAD9Barth

Interventions

triheptanoinDRUG

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.

Also known as: C7

Eligibility Criteria

Age1 Month+
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

  • 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

You may not qualify if:

  • Pregnant females
  • MCAD deficiency
  • disorder of short and medium chain fatty acid oxidation or ketone body metabolism

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

University of Pittsburgh Division of Medical Genetics, Children's Hospital of Pittsburgh

Pittsburgh, Pennsylvania, 15224, United States

Location

MeSH Terms

Conditions

VLCAD deficiencyTrifunctional Protein Deficiency With Myopathy And NeuropathyPyruvate Carboxylase Deficiency DiseaseAcyl-CoA Dehydrogenase Family, Member 9, Deficiency ofBarth Syndrome

Interventions

triheptanoin

Condition Hierarchy (Ancestors)

Brain Diseases, Metabolic, InbornBrain Diseases, MetabolicBrain DiseasesCentral Nervous System DiseasesNervous System DiseasesMetabolism, Inborn ErrorsGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesPyruvate Metabolism, Inborn ErrorsCarbohydrate Metabolism, Inborn ErrorsMetabolic DiseasesNutritional and Metabolic DiseasesMitochondrial DiseasesHeart Defects, CongenitalCardiovascular AbnormalitiesCardiovascular DiseasesHeart DiseasesAbnormalities, MultipleCongenital AbnormalitiesGenetic Diseases, X-LinkedLipid Metabolism, Inborn ErrorsLipid Metabolism Disorders

Study Officials

  • Jerry Vockley, MD, PhD

    Children's Hospital of Pittsburgh, University of Pittsburgh

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
expanded access
Sponsor Type
OTHER
Responsible Party
SPONSOR INVESTIGATOR
PI Title
Professor of Pediatrics/Human Genetics

Study Record Dates

First Submitted

October 25, 2011

First Posted

October 28, 2011

Last Updated

December 10, 2021

Record last verified: 2021-12

Locations

US(1)