Status:
NO_LONGER_AVAILABLE
Compassionate Use of Triheptanoin (C7) for Inherited Disorders of Energy Metabolism
Lead Sponsor:
Jerry Vockley, MD, PhD
Collaborating Sponsors:
Ultragenyx Pharmaceutical Inc
Conditions:
Very Long-chain acylCoA Dehydrogenase (VLCAD) Deficiency
Carnitine Palmitoyltransferase Deficiencies (CPT1, CPT2)
Eligibility:
All Genders
1+ years
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 ...
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...
Eligibility Criteria
Inclusion
- 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
- Pregnant females
- MCAD deficiency
- disorder of short and medium chain fatty acid oxidation or ketone body metabolism
Key Trial Info
Start Date :
Trial Type :
EXPANDED_ACCESS
End Date :
Estimated Enrollment :
Patients enrolled
Trial Details
Trial ID
NCT01461304
Last Update
December 10 2021
Active Locations (1)
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1
University of Pittsburgh Division of Medical Genetics, Children's Hospital of Pittsburgh
Pittsburgh, Pennsylvania, United States, 15224