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

Study Status: Enrolling by invitation
Recruit Status: Enrolling by invitation
Study Type: Interventional

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

Brief Summary: 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.

Detailed Summary:
Sponsor:


Current Primary Outcome:

  • 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

  • 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

    Original Primary Outcome:

    • 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, diagnose

      Current Secondary Outcome:

      • 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.


      Original Secondary Outcome: Same as current

      Information By: Ultragenyx Pharmaceutical Inc

      Dates:
      Date Received: August 6, 2014
      Date Started: December 2014
      Date Completion: December 2019
      Last Updated: May 10, 2017
      Last Verified: May 2017