We are updating the design of this site. Learn more.
Show more
ClinicalTrials.gov
ClinicalTrials.gov Menu

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

This study is enrolling participants by invitation only.
Sponsor:
ClinicalTrials.gov Identifier:
NCT02214160
First Posted: August 12, 2014
Last Update Posted: May 24, 2017
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.
Information provided by (Responsible Party):
Ultragenyx Pharmaceutical Inc
  Purpose
This open-label long-term safety and efficacy study will provide an opportunity for LC-FAOD patients to be treated with UX007 for up to 5 years or until market approval, whichever occurs first, under a single standardized protocol. The subjects may have participated in other studies or treatment programs with UX007/triheptanoin but would be consolidated into one program for long-term maintenance and consistent safety monitoring. The study is designed to obtain long-term safety information and evaluate maintenance of efficacy in a diverse LC-FAOD population.

Condition Intervention 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

Study Type: Interventional
Study Design: 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

Resource links provided by NLM:


Further study details as provided by Ultragenyx Pharmaceutical Inc:

Primary Outcome Measures:
  • Medical Outcomes Study 10-Item Short Form (SF-10) or Medical Outcomes Study 12-Item Short Form (SF-12) Quality of Life Assessment [ Time Frame: 60 months ]

    SF-10 for subjects aged under 18. SF-12 for subjects aged over 18.

    Functional Disability and Cognitive Development Assessment


  • Cardiomyopathy and Cardiac Function measured by Echocardiogram (ECHO) [ Time Frame: 60 months ]
    Ventricle size, ejection fraction (EF) and shortening fraction (SF).

  • Medical history including major medical illness, diagnoses/surgeries will be collected. LC-FAOD treatment history, including triheptanoin treatment history, and concomitant medications will be recorded (start date, stop date, dose, dose regimen). [ Time Frame: 60 months ]
    Safety

  • Rate of growth for pediatric and adolescent subjects will be measured using standard methods and compared to baseline height and weight, and to normal growth rates and published LC-FAOD growth rates. [ Time Frame: 60 months ]
    Safety

  • Vital Signs. Seated systolic and diastolic blood pressure (BP) measured in millimeters of mercury (mm Hg), heart rate (HR) in beats per minute, respiration rate in breaths per minute, and temperature in degrees Celsius (°C) [ Time Frame: 60 months ]
    Safety

  • Physical Examination of General appearance, head, eyes, ears, throat, cardiovascular, dermatological, lymphatic, respiratory, gastrointestinal, genitourinary, musculoskeletal, and neurologic systems [ Time Frame: 60 months ]
    Safety

  • Adverse Events [ Time Frame: 60 months ]
    Safety


Secondary Outcome Measures:
  • Laboratory Measures of creatine kinase (CK), Glucose, alanine aminotransferase (ALT), aspartate aminotransferase (AST), gamma glutamyl transpeptidase (GGT), Total/Free plasma carnitine, Plasma acylcarnitines, Urine organic acids. [ Time Frame: 60 months ]
    Biomarkers & LC-FAOD Laboratory Measures

  • Subject reported Major LC-FAOD Events [ Time Frame: 60 months ]
    Major LC-FAOD events include skeletal myopathy (rhabdomyolysis), hepatic (hypoglycemia) and cardiac disease (CM) 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. The event type, levels of relevant laboratory parameters (including CK, glucose, and B-type natriuretic peptide [BNP]/troponin), the number of days hospitalized or in ICU, and the type and number of days of treatment and intervention will be recorded.


Estimated Enrollment: 100
Actual Study Start Date: December 2014
Estimated Study Completion Date: December 2021
Estimated Primary Completion Date: September 2021 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
Experimental: UX007
Subjects will begin or continue treatment with daily open-label UX007 while maintaining their other dietary restrictions.
Drug: UX007
Subjects will begin or continue treatment with daily open-label UX007 while maintaining their other dietary restrictions.
Other Name: Triheptanoin, C7.

  Eligibility

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.


Ages Eligible for Study:   6 Months and older   (Child, Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Criteria

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 (ClinicalTrials.gov 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. 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

2. History of serious adverse reactions or known hypersensitivity to triheptanoin 3. Pregnant and/or breastfeeding an infant at Screening or planning to become pregnant (self or partner) at any time during the study 4. 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.

  Contacts and Locations
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 ClinicalTrials.gov identifier (NCT number): NCT02214160


Locations
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, D.C., District of Columbia, United States, 20010
United States, Florida
University of Southern 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
Investigators
Study Director: Jason Cataldo, DO Ultragenyx Inc.
  More Information

Additional Information:
Responsible Party: Ultragenyx Pharmaceutical Inc
ClinicalTrials.gov Identifier: NCT02214160     History of Changes
Other Study ID Numbers: UX007-CL202
First Submitted: August 6, 2014
First Posted: August 12, 2014
Last Update Posted: May 24, 2017
Last Verified: May 2017

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
Triheptanoin
UX007
C7