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
August 6, 2014
August 12, 2014
May 24, 2017
December 2014
September 2021   (Final data collection date for primary outcome measure)
  • 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
  • Parameters of muscle function will be clinically evaluated using the 12-Minute Walk Test (12MWT). Gross motor development will be assessed in subjects < 6 years of age using the Peabody Developmental Motor Scales (PDMS-2). [ Time Frame: 36 months ]
    Muscle Function and Motor Development Assessments
  • Pediatric Evaluation of Disability Inventory Computer Adaptive Test (PEDI-CAT) measure of functional capabilities [ Time Frame: 36 months ]
    Functional Disability and Cognitive Development Assessment
  • 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: 36 months ]

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

    Functional Disability and Cognitive Development Assessment

  • Clinical Global Impression Severity and Improvement Scale [ Time Frame: 36 months ]
    Functional Disability and Cognitive Development Assessment
  • Subject reported Fatigue, Exercise Tolerance, Muscle Pain, and Activity Level [ Time Frame: 36 months ]
  • Cardiomyopathy and Cardiac Function measured by Echocardiogram (ECHO) [ Time Frame: 36 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: 36 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: 36 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: 36 months ]
    Safety
  • Physical Examination of General appearance, head, eyes, ears, throat, cardiovascular, dermatological, lymphatic, respiratory, gastrointestinal, genitourinary, musculoskeletal, and neurologic systems [ Time Frame: 36 months ]
    Safety
  • Adverse Events [ Time Frame: 36 months ]
    Safety
Complete list of historical versions of study NCT02214160 on ClinicalTrials.gov Archive Site
  • 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.
  • 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: 36 months ]
    Biomarkers & LC-FAOD Laboratory Measures
  • Subject reported Major LC-FAOD Events [ Time Frame: 36 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.
Not Provided
Not Provided
 
Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD) Extension Study for Subjects Previously Enrolled in Triheptanoin Studies.
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
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.
Not Provided
Interventional
Phase 2
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Treatment
  • 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
Subjects will begin or continue treatment with daily open-label UX007 while maintaining their other dietary restrictions.
Other Name: Triheptanoin, C7.
Experimental: UX007
Subjects will begin or continue treatment with daily open-label UX007 while maintaining their other dietary restrictions.
Intervention: Drug: UX007
Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Enrolling by invitation
100
December 2021
September 2021   (Final data collection date for primary outcome measure)

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.

Sexes Eligible for Study: All
6 Months and older   (Child, Adult, Senior)
No
Contact information is only displayed when the study is recruiting subjects
United Kingdom,   United States
 
 
NCT02214160
UX007-CL202
No
Not Provided
Not Provided
Ultragenyx Pharmaceutical Inc
Ultragenyx Pharmaceutical Inc
Not Provided
Study Director: Jason Cataldo, DO Ultragenyx Inc.
Ultragenyx Pharmaceutical Inc
May 2017

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP