Working... Menu

Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD) Extension Study for Subjects Previously Enrolled in Triheptanoin Studies.

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. Read our disclaimer for details. Identifier: NCT02214160
Recruitment Status : Enrolling by invitation
First Posted : August 12, 2014
Last Update Posted : June 6, 2019
Information provided by (Responsible Party):
Ultragenyx Pharmaceutical Inc

Brief Summary:
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.

Condition or disease Intervention/treatment Phase
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 Drug: UX007 Phase 2

Expanded Access : An investigational treatment associated with this study is available outside the clinical trial.   More info ...

Layout table for study information
Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 100 participants
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Treatment
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
Actual Study Start Date : December 2014
Estimated Primary Completion Date : September 2021
Estimated Study Completion Date : September 2021

Arm Intervention/treatment
Experimental: UX007
Participants will begin or continue treatment with daily open-label UX007 while maintaining their other dietary restrictions.
Drug: UX007
Administered orally (PO) with food or by gastronomy tube, at the target dose range of 25-35% of total calories.
Other Names:
  • Triheptanoin
  • C7

Primary Outcome Measures :
  1. Annualized LC-FAOD Major Clinical Events (MCEs) [ Time Frame: Post-UX007 treatment through the end of the study (up to 60 months) ]
    The annualized LC-FAOD major events rate inclusive of skeletal myopathy (rhabdomyolysis), hepatic(hypoglycemia) and cardiomyopathy events, and are defined as any visit to the ER/acute care, hospitalization, emergency intervention (i.e. any unscheduled administration of therapeutics at home or in the clinic), or any similar event whether caused primarily by LC-FAOD or by an intercurrent illness complicated by LC-FAOD.

Secondary Outcome Measures :
  1. Change From Baseline in Ventricle Size as Measured by Echocardiogram (ECHO) [ Time Frame: Post-UX007 treatment through the end of the study (up to 60 months) ]
  2. Change From Baseline in Ejection Fraction as Measured by ECHO [ Time Frame: Post-UX007 treatment through the end of the study (up to 60 months) ]
  3. Change From Baseline in Shortening Fraction as Measured by ECHO [ Time Frame: Post-UX007 treatment through the end of the study (up to 60 months) ]
  4. Annualized duration rate of all MCEs [ Time Frame: Post-UX007 treatment through the end of the study (up to 60 months) ]
  5. Annualized event rate of rhabdomyolysis MCEs [ Time Frame: Post-UX007 treatment through the end of the study (up to 60 months) ]
  6. Annualized duration rate of rhabdomyolysis MCEs [ Time Frame: Post-UX007 treatment through the end of the study (up to 60 months) ]
  7. Annualized event rate of cardiomyopathy MCEs [ Time Frame: Post-UX007 treatment through the end of the study (up to 60 months) ]
  8. Annualized duration rate of cardiomyopathy MCEs [ Time Frame: Post-UX007 treatment through the end of the study (up to 60 months) ]
  9. Annualized event rate of hypoglycemic MCEs [ Time Frame: Post-UX007 treatment through the end of the study (up to 60 months) ]
  10. Annualized duration rate of hypoglycemic MCEs [ Time Frame: Post-UX007 treatment through the end of the study (up to 60 months) ]

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

Layout table for eligibility information
Ages Eligible for Study:   6 Months and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

Inclusion Criteria:

  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 severe unmet need, may also be eligible at the discretion of the sponsor
  3. 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
  4. 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
  5. 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.
  6. 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
  7. 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

Exclusion Criteria:

  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. History of serious adverse reactions or known hypersensitivity to triheptanoin
  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

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 identifier (NCT number): NCT02214160

Layout table for location information
United States, California
University of California San Francisco
San Francisco, California, United States, 94143
United States, District of Columbia
Children's National Medical Center
Washington, District of Columbia, United States, 20010
United States, Florida
University of South Florida
Tampa, Florida, United States, 33606
United States, Illinois
Ann & Robert H. Lurie Children's Hospital of Chicago
Chicago, Illinois, United States, 60611
United States, Massachusetts
Boston Children's Hospital
Boston, Massachusetts, United States, 02215
United States, Pennsylvania
Children's Hospital of Pittsburgh of UPMC
Pittsburgh, Pennsylvania, United States, 15224
United States, Tennessee
Vanderbilt University Medical Center
Nashville, Tennessee, United States, 37232
United States, Utah
University of Utah
Salt Lake City, Utah, United States, 84132
United Kingdom
National Hospital for Neurology and Neurosurgery
London, United Kingdom, WC1N 3BG
Great Ormond Street Hospital
London, United Kingdom, WC1N 3JH
Sponsors and Collaborators
Ultragenyx Pharmaceutical Inc
Layout table for investigator information
Study Director: Medical Director Ultragenyx Inc.

Additional Information:
Layout table for additonal information
Responsible Party: Ultragenyx Pharmaceutical Inc Identifier: NCT02214160     History of Changes
Other Study ID Numbers: UX007-CL202
First Posted: August 12, 2014    Key Record Dates
Last Update Posted: June 6, 2019
Last Verified: June 2019

Layout table for additional information
Studies a U.S. FDA-regulated Drug Product: Yes
Studies a U.S. FDA-regulated Device Product: No

Keywords provided by Ultragenyx Pharmaceutical Inc:
Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD)
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