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

• Status: No longer available
• Trial end date: 1969-12-31
• Target enrollment: 0
• Participant gender: All

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.

• Accepts Healthy Volunteers?: No

Details

• Lead Sponsor: Jerry Vockley, MD, PhD; University of Pittsburgh
• Collaborator: Ultragenyx Pharmaceutical Inc

Criteria

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