for people ages 6 months and up (full criteria)
at San Francisco, California and other locations
study started
estimated completion
Principal Investigator
Renata Gallagher
Photo of Renata Gallagher
Renata Gallagher



The primary objective of this study is to evaluate the long-term safety and efficacy of UX007 in LC-FAOD subjects. The secondary objectives of this study are to evaluate the effect of UX007 on energy metabolism in LC-FAOD and evaluate the impact of UX007 on clinical events associated with LC-FAOD.

Official Title

An Open-label Long-Term Safety and Efficacy Extension Study in Subjects With Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD) Previously Enrolled in UX007 or Triheptanoin Studies


Carnitine Palmitoyltransferase (CPT I or CPT II) Deficiency Very Long Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency Long-chain 3-hydroxy-acyl-CoA Dehydrogenase (LCHAD) Deficiency Trifunctional Protein (TFP) Deficiency Carnitine-acylcarnitine Translocase (CACT) Deficiency Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD) Triheptanoin UX007 C7


You can join if…

Open to people ages 6 months and up

  1. Male or female, 6 months of age or older
  2. Prior participation in a clinical study assessing UX007/triheptanoin treatment for LC

FAOD. Study Sponsors/Collaborators include: Oregon Health & Science University, University of Pittsburgh, and Ultragenyx Pharmaceutical (

Identifiers: NCT01379625, NCT01461304, and NCT01886378). Patients who received UX007/triheptanoin treatment as part of other clinical studies; investigator sponsored trials (IST); expanded access/compassionate use treatment programs; or patients who are treatment naïve (i.e., naïve to both UX007 and food-grade triheptanoin), have failed conventional therapy and, in the opinion of the Investigator and Sponsor, have documented clear unmet need, may also be eligible at the discretion of the Sponsor

  1. Confirmed diagnosis of LC-FAOD including: carnitine palmitoyltransferase (CPT I or CPT II) deficiency, very long chain acyl-CoA dehydrogenase (VLCAD) deficiency, long chain 3-hydroxy-acyl-CoA dehydrogenase (LCHAD) deficiency, trifunctional protein (TFP) deficiency, or carnitine-acylcarnitine translocase (CACT) deficiency. Information on diagnosis will be obtained from medical records and should include confirmed diagnosis by results of acylcarnitine profiles, fatty acid oxidation probe studies in cultured fibroblasts, and/or mutation analysis
  2. Willing and able to complete all aspects of the study through the end of the study, including visits and tests, documentation of symptoms and diet, and administration of study medications. If a minor, have a caregiver(s) willing and able to assist in all applicable study requirements
  3. Provide written informed consent (subjects aged ≥ 18 years), or provide written assent (where appropriate) and have a legally authorized representative willing and able to provide written informed consent, after the nature of the study has been explained and prior to any research-related procedures.
  4. Females of child-bearing potential must have a negative urine pregnancy test at Baseline and be willing to have additional pregnancy tests during the study. Females considered not of child-bearing potential include those who have not experienced menarche, are post-menopausal (defined as having no menses for at least 12 months without an alternative medical cause), or are permanently sterile due to total hysterectomy, bilateral salpingectomy, or bilateral oophorectomy
  5. Participants of child-bearing potential or fertile males with partners of child-bearing potential who are sexually active must consent to use a highly effective method of contraception as determined by the Investigator from the period following the signing of the informed consent through 30 days after last dose of study drug

You CAN'T join if...

  1. Diagnosis of medium-chain acyl coenzyme A dehydrogenase (MCAD) deficiency, short- or medium-chain FAOD, ketone body metabolism defect, propionic acidemia or methylmalonic acidemia
  2. Patient qualifies for any other clinical trial designed to progressively evaluate the safety and efficacy of triheptanoin in LC-FAOD
  3. Any known hypersensitivity to triheptanoin that, in the judgment of the Investigator, places the subject at increased risk for adverse effects
  4. Pregnant and/or breastfeeding an infant at Screening or planning to become pregnant (self or partner) at any time during the study
  5. Have any co-morbid conditions, including unstable major organ-system disease(s) that in the opinion of the Investigator, places the subject at increased risk of complications, interferes with study participation or compliance, or confounds study objectives, or unwilling to discontinue prohibited medications


  • University of California San Francisco
    San Francisco California 94143 United States
  • University of Utah
    Salt Lake City Utah 84132 United States

Lead Scientist at UCSF

  • Renata Gallagher
    Professor, Pediatrics. Authored (or co-authored) 51 research publications.


in progress, not accepting new patients
Start Date
Completion Date
Ultragenyx Pharmaceutical Inc
Related Info
Phase 2
Study Type
Last Updated