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

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ClinicalTrials.gov Identifier: NCT01886378
Recruitment Status : Completed
First Posted : June 25, 2013
Last Update Posted : October 25, 2019
Sponsor:
Information provided by (Responsible Party):
Ultragenyx Pharmaceutical Inc

Study Description
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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.

Condition or disease Intervention/treatment Phase
Long-chain Fatty Acid Oxidation Disorders (LC-FAOD) Carnitine Palmitoyltransferase (CPT II) Deficiency Very Long Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency Longchain 3-hydroxy-acyl-CoA Dehydrogenase (LCHAD) Deficiency Trifunctional Protein (TFP) Deficiency Drug: UX007 Phase 2

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

Study Design
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Study Type : Interventional  (Clinical Trial)
Actual Enrollment : 29 participants
Allocation: N/A
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Treatment
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)
Actual Study Start Date : February 2014
Actual Primary Completion Date : August 2016
Actual Study Completion Date : August 2016
Arms and Interventions
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Arm Intervention/treatment
Experimental: UX007
UX007 dosing titrated to a target dose of 25-35% of total caloric intake or maximum tolerated dose. Participants are followed to evaluate the effects of UX007 over 24 weeks (Treatment Period), then continued treatment in the Extension Period for an additional 54 weeks for a total of 78 weeks of treatment.
 Drug: UX007
Other Names:
  • triheptanoin
  • C7 oil


Outcome Measures
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Primary Outcome Measures :
  1. Change From Baseline in Total Area Under the Curve (AUC) for Workload During Cycle Ergometry at Week 24 [ Time Frame: Baseline, Week 24 ]
  2. Change From Baseline in Time-Adjusted AUC for Respiratory Exchange Ratio (RER) During Cycle Ergometry at Week 24 [ Time Frame: Baseline, Week 24 ]
  3. Change From Baseline in Actual Duration of Exercise During Cycle Ergometry at Week 24 [ Time Frame: Baseline, Week 24 ]
  4. Change From Baseline in Distance Traveled During the 12MWT at Week 18 [ Time Frame: Baseline (last assessment during the 4-week run-in period), Week 18 ]
  5. Change From Baseline in Energy Expenditure Index (EEI) During the 12- Minute Walk Test (12MWT) at Week 18 [ Time Frame: Baseline (last assessment during the 4-week run-in period), Week 18 ]
  6. Percentage of the Predicted 6-Minute Walk Test (6MWT) Distance Walked at Week 18 [ Time Frame: Baseline (last assessment during the 4-week run-in period), Week 18 ]
  7. Change From Baseline in Physical Summary Score (PHS-10) of the Short Form 10 (SF10) at Week 24 [ Time Frame: Baseline, Week 24 ]
  8. Change From Baseline in Psychosocial Summary Score (PSS-10) of the SF10 at Week 24 [ Time Frame: Baseline, Week 24 ]
  9. Change From Baseline in the Physical Component Summary Scale (PCS-12) at Week 24 [ Time Frame: Baseline, Week 24 ]
  10. Change From Baseline in the Mental Component Summary Scale (MCS-12) at Week 24 [ Time Frame: Baseline, Week 24 ]
  11. Annualized Event Rate of All Major Clinical Events Pre- and Post-Treatment with UX007 [ Time Frame: 18 months before and after UX007 initiation ]
  12. Annualized Duration Rate of All Major Clinical Events Pre- and Post-Treatment with UX007 [ Time Frame: 18 months before and after UX007 initiation ]
  13. Annualized Event Rate of Major Rhabdomyolysis Clinical Events Pre- and Post-Treatment with UX007 [ Time Frame: 18 months before and after UX007 initiation ]
  14. Annualized Duration Rate of Major Rhabdomyolysis Clinical Events Pre- and Post-Treatment with UX007 [ Time Frame: 18 months before and after UX007 initiation ]
  15. Annualized Event Rate of Major Hypoglycemia Clinical Events Pre- and Post-Treatment with UX007 [ Time Frame: 18 months before and after UX007 initiation ]
  16. Annualized Duration Rate of Major Hypoglycemia Clinical Events Pre- and Post-Treatment with UX007 [ Time Frame: 18 months before and after UX007 initiation ]
  17. Annualized Event Rate of Major Cardiac Clinical Events Pre- and Post-Treatment with UX007 [ Time Frame: 18 months before and after UX007 initiation ]
  18. Annualized Duration Rate of Major Cardiac Clinical Events Pre- and Post-Treatment with UX007 [ Time Frame: 18 months before and after UX007 initiation ]

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

Inclusion Criteria:

  • Confirmed diagnosis of CPT II, VLCAD, LCHAD, or TFP deficiency, based on results of acylcarnitine profiles, fatty acid oxidation probe studies in cultured fibroblasts, and/or mutation analysis obtained from medical records.
  • Male or female, at least 6 months of age
  • Willing and able to complete all aspects of the study through the end of the study. If a minor, have a caregiver(s) willing and able to assist in all applicable study requirements.
  • 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
  • Willing and able to provide access to medical records charting the last 18-24 months of care prior to the study initiation, or from birth for those subjects less than 18 months of age
  • No history of serious adverse reactions or known hypersensitivity to triheptanoin
  • Currently managed on a stable treatment regimen (including diet), which may include low-fat/high-carbohydrate diet, avoidance of fasting, carnitine and/or medium-chain triglyceride (MCT) oil. The treatment regimen (including diet) should be stable for the last 60 days to assure that changes in the subject's condition are not confounded by recent changes in the treatment regimen that could affect the 4 week run-in evaluation period. Once study drug treatment has started, must be willing to maintain all aspects of the subject's treatment regimen and diet unchanged, other than discontinuation of MCT oil, in order to avoid potential variability of response due to variations in dietary intake.

  • Have severe LC-FAOD, as evidenced by ANY ONE of the following significant clinical manifestations despite therapy:

    • Chronic Elevated Creatine Kinase (CK) with Major Clinical Events: Elevated mean CK levels over the last 6 months -1 year (defined as ≥ 2X upper limit of age/gender-matched normal, or ≥ 500 units/L if age-matched reference not established) not associated with an acute rhabdomyolysis event, AND at least two major clinical events (as defined in the protocol) in the last year, or at least four major clinical events over the last two years,
    • Episodic Elevated CK with Reported Muscle Dysfunction: Episodes of elevated CK levels over the last 6 months -1 year (defined as ≥ 2X upper limit of age/gender-matched normal, or ≥ 500 units/L if age-matched reference is not established) not associated with an acute rhabdomyolysis event, AND patient report of frequent muscle fatigue, exercise intolerance, or limitation of exercise,
    • Highly Elevated CK but Asymptomatic: More seriously elevated mean CK levels (defined as ≥ 4X upper limit of age/gender-matched normal, or ≥ 1000 units/L if age-matched reference is not established) consistent with substantial chronic muscle rupture over the last 6 months-1 year, regardless of frequency of hospitalizations or ER events,
    • Frequent Severe Major Medical Episodes (at least 3 within the past year, or 5 within 2 years) of hypoglycemia, rhabdomyolysis, or exacerbation of cardiomyopathy [CM], requiring emergency room [ER]/acute care visits or hospitalizations,
    • Severe Susceptibility to Hypoglycemia (serum glucose <60 mg/dL) after short periods of fasting (less than 4-12 hours, depending on age), with at least 2 events in the last year that require ongoing prophylactic management, OR recurrent symptomatic hypoglycemia (blood glucose levels or clinical symptoms of hypoglycemia) at home requiring intervention ≥ 2 times per week,
    • Evidence of Functional Cardiomyopathy (with echocardiogram (ECHO) within past 90 days documenting poor ejection fraction [EF]) requiring ongoing medical management
  • Females who have reached menarche must have a negative pregnancy test at Screening. If sexually active, subject must be willing to use acceptable method of contraception and have additional pregnancy tests during the study.

Exclusion Criteria:

  • Diagnosis of carnitine-acylcarnitine translocase (CACT) or CPT I
  • Diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency, short- or medium-chain FAOD, ketone body metabolism defect, propionic acidemia or methylmalonic acidemia
  • Enrolled in a clinical study involving concurrent use of an investigational drug product within the last 30 days, or unwilling to discontinue use of a prohibited medication or other substance that may confound study objectives
  • Unwilling to sign informed consent or release of medical records
  • 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
Contacts and Locations
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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): NCT01886378


Locations
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United States, District of Columbia
Children's National Medical Center
Washington, 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, 02115
United States, Pennsylvania
Children's Hospital of Pittsburgh of UPMC
Pittsburgh, Pennsylvania, United States, 15224
United States, Tennessee
Vanderbilt Medical Center
Nashville, Tennessee, United States, 37232
United States, Utah
University of Utah
Salt Lake City, Utah, United States, 84132
United Kingdom
Birmingham Children's Hospital
Birmingham, United Kingdom, B4 6NH
National Hospital for Neurology and Neurosurgery
London, United Kingdom, WC1N 3BP
Great Ormond Street Hospital
London, United Kingdom, WC1N 3JH
Sponsors and Collaborators
Ultragenyx Pharmaceutical Inc
Investigators
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Study Director: Medical Director Ultragenyx Pharmaceutical
More Information
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Additional Information:

Publications of Results:

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Responsible Party: Ultragenyx Pharmaceutical Inc
ClinicalTrials.gov Identifier: NCT01886378    
Other Study ID Numbers: UX007-CL201
2013-004830-14 ( EudraCT Number )
First Posted: June 25, 2013    Key Record Dates
Last Update Posted: October 25, 2019
Last Verified: October 2019
Keywords provided by Ultragenyx Pharmaceutical Inc:
FAOD
VLCAD
CPT II
CPT2
CPT 2
 LCHAD
UX007
Triheptanoin
TFP
C7
Additional relevant MeSH terms:
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Disease
Pathologic Processes