Clinical Trial: An Open-label Phase 2 Study of UX007 (Triheptanoin) in Subjects With Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD)

Study Status: Completed
Recruit Status: Completed
Study Type: Interventional

Official Title: An Open-label Phase 2 Study to Assess Safety and Clinical Effects of UX007 in Subjects With Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD)

Brief Summary: UX007-CL201 is an open-label Phase 2 study to assess the safety and clinical effects of UX007 in subjects with LC-FAOD. Following a 4 week run in period on current therapy, subjects will cross over to daily UX007 treatment for an initial 24 week treatment period, followed by an additional 54 week extension period. Approximately 30 subjects at least 6 months of age inclusive with severe LC-FAOD, specifically VLCAD, LCHAD, CPT 2, or TFP disorders, will be enrolled and treated with UX007.

Detailed Summary:
Sponsor: Ultragenyx Pharmaceutical Inc

Current Primary Outcome: Evaluate the impact of UX007 on acute clinical pathophysiology associated with LC-FAOD (following 24 weeks of treatment) [ Time Frame: 24 weeks ]

The impact of UX007 on acute clinical pathophysiology associated with LC-FAOD will be assessed by evaluating the change from baseline over 24 weeks of treatment across the following 3 relevant disease areas: (1) skeletal myopathy: exercise intolerance measured by cycle ergometry, muscle weakness and fatigue, muscle function measured by the 12 Minute Walk Test (12MWT), motor development measured by the PDMS-2, functional disability, the number and duration of major rhabdomyolysis events, and non-CK levels; (2) hepatic disease: number of symptomatic or clinically important hypoglycemia events treated at home, number and duration of major hypoglycemia events, fasting serum glucose levels, liver size by hepatic ultrasound; and (3) cardiac disease: cardiac medication required for maintenance treatment, number and duration of major cardiomyopathy events, cardiomyopathy and cardiac function as measured by ECHO and ECG, and non-acute levels of BNP and troponin.


Original Primary Outcome: Evaluate the impact of UX007 on acute clinical pathophysiology associated with LC-FAOD (following 24 weeks of treatment) [ Time Frame: 24 weeks ]

The impact of UX007 on acute clinical pathophysiology associated with LC-FAOD will be assessed by evaluating the change from baseline over 24 weeks of treatment across the following 3 major organ systems: (1) skeletal myopathy: exercise intolerance measured by cycle ergometry, muscle weakness and fatigue, muscle function measured by the 12 Minute Walk Test (12MWT), functional disability, the number and duration of major rhabdomyolysis events, and non-CK levels; (2) hepatic disease: number of symptomatic or clinically important hypoglycemia events treated at home, number and duration of major hypoglycemia events, fasting serum glucose levels, liver size by hepatic ultrasound; and (3) cardiac disease: cardiac medication required for maintenance treatment, number and duration of major cardiomyopathy events, cardiomyopathy and cardiac function as measured by ECHO and ECG, and non-acute levels of BNP and troponin.


Current Secondary Outcome:

  • Evaluate the safety of UX007 treatment in subjects with LC-FAOD [ Time Frame: 24 weeks and 78 weeks ]
    The safety of UX007 treatment will be assessed based on the incidence rate of AEs, SAEs, and clinically significant changes in physical examination findings, vital signs, clinical laboratory parameters, ECHOs, ECGs, hepatic ultrasounds.
  • Evaluate the effect of UX007 on energy metabolism in LC-FAOD [ Time Frame: 24 weeks and 78 weeks ]
    The effect of UX007 on energy metabolism will be assessed by evaluating the change from baseline over 24 weeks and 78 weeks of treatment across biomarkers of UX007 effects, PK of UX007 and UX007 metabolites, LC-FAOD related laboratory parameters, and LC-FAOD laboratory parameters.


Original Secondary Outcome: Same as current

Information By: Ultragenyx Pharmaceutical Inc

Dates:
Date Received: June 18, 2013
Date Started: February 2014
Date Completion:
Last Updated: November 23, 2016
Last Verified: November 2016