Carnitine Palmitoyltransferase (CPT I or CPT II) DeficiencyPhase 2NCT02214160
Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD) Extension Study for Subjects Previously Enrolled in Triheptanoin Studies
A Phase 2 study testing UX007 in people with Carnitine Palmitoyltransferase (CPT I or CPT II) Deficiency and Very Long Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency, run by Ultragenyx Pharmaceutical Inc at 11 sites in 2 countries.
Trial summary
The primary objective of this study is to evaluate the long-term safety and efficacy of UX007 in participants with LC-FAOD. The secondary objectives of this study are to evaluate the effect of UX007 on energy metabolism in LC-FAOD and evaluate the impact of UX007 on clinical events associated with LC-FAOD. Read more about this study
- Who is it for?
- Ages 6 months and older
- Conditions the study is for
- 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
- What is being tested?
- UX007
- Type of treatment
- Pill or oral medicine
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 94 participants
- Where
- 11 sitesin 2 countries
- Study dates
- 9 Dec 2014to 3 Dec 2020
- Phase
- Phase 2
- Are there results?
- Yes, posted in the registrySummary in the doctors' view
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 6 months and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- Male or female, 6 months of age or older
- 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 clear unmet need, may also be eligible at the discretion of the Sponsor
- Confirmed diagnosis of LC-FAOD including: CPT I or CPT II deficiency, VLCAD deficiency, LCHAD deficiency, TFP deficiency, or 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
- 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
- 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.
- 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
- 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
Who cannot join
- Diagnosis of medium-chain acyl coenzyme A dehydrogenase (MCAD) deficiency, short- or medium-chain FAOD, ketone body metabolism defect, propionic acidemia or methylmalonic acidemia
- Patient qualifies for any other clinical trial designed to progressively evaluate the safety and efficacy of triheptanoin in LC-FAOD
- Any known hypersensitivity to triheptanoin that, in the judgment of the Investigator, places the subject at increased risk for adverse effects
- Pregnant and/or breastfeeding an infant at Screening or planning to become pregnant (self or partner) at any time during the study
- 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
Trial locations and contacts
11 sites in 2 countries.
11 sites in 2 countries
United States9 sites
Boston Children's Hospital
Boston, Massachusetts, 02115
Ann & Robert H. Lurie Children's Hospital of Chicago
Chicago, Illinois, 60611
Vanderbilt Medical Center
Nashville, Tennessee, 37232
Children's Hospital of Pittsburgh of UPMC
Pittsburgh, Pennsylvania, 15224
University of Utah
Salt Lake City, Utah, 84108
University of California San Francisco
San Francisco, California, 94143
Seattle Children's Hospital
Seattle, Washington, 98105
University of South Florida
Tampa, Florida, 33606
Children's National Health System
Washington D.C., District of Columbia, 20010
United Kingdom2 sites
National Hospital for Neurology and Neurosurgery
London, WC1N 3BP
Great Ormond Street Hospital
London, WC1N 3JH
About this study
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
The primary objective of this study is to evaluate the long-term safety and efficacy of UX007 in participants with LC-FAOD. The secondary objectives of this study are to evaluate the effect of UX007 on energy metabolism in LC-FAOD and evaluate the impact of UX007 on clinical events associated with LC-FAOD.
- Conditions
- 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
- Being tested
- UX007
- Keywords
- 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
- Medical subject headings
- VLCAD deficiency
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
UX007Drug
Also called Triheptanoin, C7
Administered orally (PO) with food or by gastrostomy tube, at the target dose range of 25-35% of total calories.
| Study group | Role | What they receive |
|---|---|---|
| UX007 | Experimental | Participants previously treated with UX007 or treatment-naive participants will begin or continue treatment with daily open-label UX007 while maintaining their other dietary restrictions. Receives: Drug: UX007 |
What is being measured
The primary outcome is the main question the study is designed to answer.
Annualized LC-FAOD Major Clinical Events (MCEs) Rate: 18 Months Pre- and Entire UX007 Period Comparison for UX007-CL201-Rollover Cohort
The annualized LC-FAOD MCE rate, inclusive of skeletal myopathy (rhabdomyolysis), hepatic (hypoglycemia) and cardiomyopathy events, defined as any visit to the emergency room (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 annualized event rate was calculated at the number of events divided by the duration of data collection period in days/365.25
Measured: Pre-UX007 treatment period (up to 18 months) and post-UX007 treatment period (up to 2072 days)
Annualized LC-FAOD MCEs Rate: 18 Months Pre- and Entire UX007 Period Comparison for IST/Other Cohort and Triheptanoin-Naïve Cohort
The annualized LC-FAOD MCE rate, inclusive of skeletal myopathy (rhabdomyolysis), hepatic (hypoglycemia) and cardiomyopathy events, defined as any visit to the emergency room (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 annualized event rate was calculated at the number of events divided by the duration of data collection period in days/365.25
Measured: Pre-UX007 treatment period (up to 18 months) and post-UX007 treatment period (up to 2072 days)
Number of Participants With Treatment-Emergent Adverse Events (TEAEs) or Serious TEAEs
An adverse event (AE) was defined as any untoward medical occurrence, whether or not considered drug related. A serious adverse event (SAE) results in any of the following outcomes: death; a life-threatening AE; inpatient hospitalization or prolongation of existing hospitalization; persistent or significant incapacity or disability; a congenital anomaly/birth defect; an important medical event. AEs were graded using the National Cancer Institute (NCI) Common Terminology Criteria for Adverse Events (CTCAE) Version 4.0 (mild=1, moderate=2, severe=3, life-threatening=4, death=5).
Measured: Post-UX007 treatment through the end of treatment (up to 2072 days) plus 30-35 days
Secondary outcomes (14)
Change From Baseline in Echocardiogram (ECHO) Parameters Over Time: Left Ventricular Mass Index (LVMI)
Measured: Baseline, Month 12, Month 24, Month 36, Month 48, Month 60
Change From Baseline in ECHO Parameters Over Time: Left Ventricular Mass (LVM)
Measured: Baseline, Month 12, Month 24, Month 36, Month 48, Month 60
Change From Baseline in ECHO Parameters Over Time: Left Ventricular Diameter (LVD)
Measured: Baseline, Month 12, Month 24, Month 36, Month 48, Month 60
Change From Baseline in ECHO Parameters Over Time: Left Ventricular Ejection Fraction (LVEF)
Measured: Baseline, Month 12, Month 18, Month 24, Month 30, Month 36, Month 48, Month 60
Change From Baseline in ECHO Parameters Over Time: LVEF Z-Score (Pediatric Participants)
The Z-scores express the deviation (or how far away) the measure is from the mean LVEF based on the size or age of the pediatric participants:
Z-score=0 indicates the participant is exactly the same as the mean of the healthy general population.
Z-score=-1 indicates it's 1 standard deviation below the mean of the healthy population.
Z-score=+1 indicates it's 1 standard deviation above the mean.
Measured: Baseline, Month 12, Month 24, Month 36
Change From Baseline in ECHO Parameters Over Time: Left Ventricular Shortening Fraction (LVSF)
Fractional shortening is calculated by measuring the percentage change in left ventricular diameter during systole. A negative value indicates less ventricular/muscular contractility, and a positive value indicates more ventricular/muscular contractility.
Measured: Baseline, Month 12, Month 24, Month 30, Month 36, Month 48, Month 60
Change From Baseline in ECHO Parameters Over Time: LVSF Z-Score (Pediatric Participants)
The Z-scores express the deviation (or how far away) the measure is from the mean LVSF based on the size or age of the pediatric participants:
Z-score=0 indicates the participant is exactly the same as the mean of the healthy general population.
Z-score=-1 indicates it's 1 standard deviation below the mean of the healthy population.
Z-score=+1 indicates it's 1 standard deviation above the mean.
Measured: Baseline, Month 12, Month 24, Month 36, Month 48, Month 60
Annualized Duration Rate of All MCEs
The annualized duration rate of LC-FAOD MCEs, inclusive of skeletal myopathy (rhabdomyolysis), hepatic (hypoglycemia) and cardiomyopathy events, and 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 annualized duration rate is calculated as the total duration (days) of events divided by the duration of data collection period in days/365.25.
Measured: Post-UX007 treatment through the end of the study (up to 2072 days)
Annualized Event Rate of Rhabdomyolysis MCEs
The annualized event rate of LC-FAOD major events of skeletal myopathy (rhabdomyolysis), 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 annualized event rate was calculated at the number of events divided by the duration of data collection period in days/365.25.
Measured: Post-UX007 treatment through the end of the study (up to 2072 days)
Annualized Duration Rate of Rhabdomyolysis MCEs
The annualized duration rate of LC-FAOD skeletal myopathy (rhabdomyolysis) MCEs, 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 annualized duration rate is calculated as the total duration (days) of events divided by the duration of data collection period in days/365.25.
Measured: Post-UX007 treatment through the end of the study (up to 2072 days)
Annualized Event Rate of Cardiomyopathy MCEs
The annualized event rate of LC-FAOD major events inclusive of cardiomyopathy events, 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 annualized event rate was calculated at the number of events divided by the duration of data collection period in days/365.25.
Measured: Post-UX007 treatment through the end of the study (up to 2072 days)
Annualized Duration Rate of Cardiomyopathy MCEs
The annualized duration rate of LC-FAOD cardiomyopathy MCEs, 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 annualized duration rate is calculated as the total duration (days) of events divided by the duration of data collection period in days/365.25
Measured: Post-UX007 treatment through the end of the study (up to 2072 days)
Annualized Event Rate of Hypoglycemic MCEs
The annualized event rate of LC-FAOD major events of hepatic (hypoglycemia) events, 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 annualized event rate was calculated at the number of events divided by the duration of data collection period in days/365.25.
Measured: Post-UX007 treatment through the end of the study (up to 2072 days)
Annualized Duration Rate of Hypoglycemic MCEs
The annualized duration rate of LC-FAOD hepatic (hypoglycemia) MCEs, 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 annualized duration rate is calculated as the total duration (days) of events divided by the duration of data collection period in days/365.25.
Measured: Post-UX007 treatment through the end of the study (up to 2072 days)
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted12 Aug 2014 (estimated)
- Study start9 Dec 2014
- Primary completion3 Dec 2020
- Study completion3 Dec 2020
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Posted resultsParticipant flow, outcome measures and adverse events reported by the sponsor.
- Publications (2)Papers the sponsor has linked to this study.
- Other trials for Carnitine Palmitoyltransferase (CPT I or CPT II) DeficiencyStudies of the same condition, open and under way.
- More trials run by Ultragenyx Pharmaceutical IncThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase 2
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 94 participants (actual)
Sponsor and investigators
- Lead sponsor
- Ultragenyx Pharmaceutical Inc
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Medical Director, Study director, Ultragenyx Inc.
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02214160
- Sponsor's protocol ID
- UX007-CL202
- Other IDs
- 2016-000322-19, 2016
- Status last verified
- Jul 2023
- First submitted
- 6 Aug 2014
- Last updated
- 1 Aug 2023
- Results posted
- Yes, on ClinicalTrials.gov
- Data monitoring committee
- No
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
- Expanded access
- Available
Publications
Vockley J, Burton B, Berry G, Longo N, Phillips J, Sanchez-Valle A, Chapman K, Tanpaiboon P, Grunewald S, Murphy E, Lu X, Cataldo J. Effects of triheptanoin (UX007) in patients with long-chain fatty acid oxidation disorders: Results from an open-label, long-term extension study. J Inherit Metab Dis. 2021 Jan;44(1):253-263. doi: 10.1002/jimd.12313. Epub 2020 Sep 14.
PubMed 32885845Vockley J, Burton BK, Berry G, Longo N, Phillips J, Sanchez-Valle A, Chapman KA, Tanpaiboon P, Grunewald S, Murphy E, Lu X, Rahman S, Ray K, Reineking B, Pisani L, Ramirez AN. Triheptanoin for the treatment of long-chain fatty acid oxidation disorders: Final results of an open-label, long-term extension study. J Inherit Metab Dis. 2023 Sep;46(5):943-955. doi: 10.1002/jimd.12640. Epub 2023 Jun 19.
PubMed 37276053
Study at a glance
From the registry record, last updated by the sponsor on 1 Aug 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- 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
- ClinicalTrials.gov ID
- NCT02214160
- Acronym / sponsor ID
- UX007-CL202
- Conditions
- 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
- Keywords
- 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
- Phase
- Phase 2
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 94 participants (actual)
- Lead sponsor
- Ultragenyx Pharmaceutical IncIndustry (pharma, biotech, devices)
- Study start
- 9 Dec 2014 (actual)
- Primary completion
- 3 Dec 2020 (actual)
- Study completion
- 3 Dec 2020 (actual)
- First posted
- 12 Aug 2014 (estimated)
- Results
- Posted 8 Dec 2021
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
The primary objective of this study is to evaluate the long-term safety and efficacy of UX007 in participants with LC-FAOD. The secondary objectives of this study are to evaluate the effect of UX007 on energy metabolism in LC-FAOD and evaluate the impact of UX007 on clinical events associated with LC-FAOD.
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| UX007 | Experimental | Drug: UX007Participants previously treated with UX007 or treatment-naive participants will begin or continue treatment with daily open-label UX007 while maintaining their other dietary restrictions. |
Who may qualify
- Ages
- 6 months and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (7 listed)
- Male or female, 6 months of age or older
- 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 clear unmet need, may also be eligible at the discretion of the Sponsor
- Confirmed diagnosis of LC-FAOD including: CPT I or CPT II deficiency, VLCAD deficiency, LCHAD deficiency, TFP deficiency, or 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
- 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
- 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.
Key exclusion criteria (5 listed)
- Diagnosis of medium-chain acyl coenzyme A dehydrogenase (MCAD) deficiency, short- or medium-chain FAOD, ketone body metabolism defect, propionic acidemia or methylmalonic acidemia
- Patient qualifies for any other clinical trial designed to progressively evaluate the safety and efficacy of triheptanoin in LC-FAOD
- Any known hypersensitivity to triheptanoin that, in the judgment of the Investigator, places the subject at increased risk for adverse effects
- Pregnant and/or breastfeeding an infant at Screening or planning to become pregnant (self or partner) at any time during the study
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| UX007Also: Triheptanoin, C7Administered orally (PO) with food or by gastrostomy tube, at the target dose range of 25-35% of total calories. | Drug | UX007 |
Primary outcome
Annualized LC-FAOD Major Clinical Events (MCEs) Rate: 18 Months Pre- and Entire UX007 Period Comparison for UX007-CL201-Rollover Cohort
Time frame: Pre-UX007 treatment period (up to 18 months) and post-UX007 treatment period (up to 2072 days)
The annualized LC-FAOD MCE rate, inclusive of skeletal myopathy (rhabdomyolysis), hepatic (hypoglycemia) and cardiomyopathy events, defined as any visit to the emergency room (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 annualized event rate was calculated at the number of events divided by the duration of data collection period in days/365.25
Annualized LC-FAOD MCEs Rate: 18 Months Pre- and Entire UX007 Period Comparison for IST/Other Cohort and Triheptanoin-Naïve Cohort
Time frame: Pre-UX007 treatment period (up to 18 months) and post-UX007 treatment period (up to 2072 days)
The annualized LC-FAOD MCE rate, inclusive of skeletal myopathy (rhabdomyolysis), hepatic (hypoglycemia) and cardiomyopathy events, defined as any visit to the emergency room (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 annualized event rate was calculated at the number of events divided by the duration of data collection period in days/365.25
Number of Participants With Treatment-Emergent Adverse Events (TEAEs) or Serious TEAEs
Time frame: Post-UX007 treatment through the end of treatment (up to 2072 days) plus 30-35 days
An adverse event (AE) was defined as any untoward medical occurrence, whether or not considered drug related. A serious adverse event (SAE) results in any of the following outcomes: death; a life-threatening AE; inpatient hospitalization or prolongation of existing hospitalization; persistent or significant incapacity or disability; a congenital anomaly/birth defect; an important medical event. AEs were graded using the National Cancer Institute (NCI) Common Terminology Criteria for Adverse Events (CTCAE) Version 4.0 (mild=1, moderate=2, severe=3, life-threatening=4, death=5).
14 secondary outcomes
Change From Baseline in Echocardiogram (ECHO) Parameters Over Time: Left Ventricular Mass Index (LVMI)
Time frame: Baseline, Month 12, Month 24, Month 36, Month 48, Month 60
Change From Baseline in ECHO Parameters Over Time: Left Ventricular Mass (LVM)
Time frame: Baseline, Month 12, Month 24, Month 36, Month 48, Month 60
Change From Baseline in ECHO Parameters Over Time: Left Ventricular Diameter (LVD)
Time frame: Baseline, Month 12, Month 24, Month 36, Month 48, Month 60
Change From Baseline in ECHO Parameters Over Time: Left Ventricular Ejection Fraction (LVEF)
Time frame: Baseline, Month 12, Month 18, Month 24, Month 30, Month 36, Month 48, Month 60
Change From Baseline in ECHO Parameters Over Time: LVEF Z-Score (Pediatric Participants)
Time frame: Baseline, Month 12, Month 24, Month 36
Change From Baseline in ECHO Parameters Over Time: Left Ventricular Shortening Fraction (LVSF)
Time frame: Baseline, Month 12, Month 24, Month 30, Month 36, Month 48, Month 60
Change From Baseline in ECHO Parameters Over Time: LVSF Z-Score (Pediatric Participants)
Time frame: Baseline, Month 12, Month 24, Month 36, Month 48, Month 60
Annualized Duration Rate of All MCEs
Time frame: Post-UX007 treatment through the end of the study (up to 2072 days)
Annualized Event Rate of Rhabdomyolysis MCEs
Time frame: Post-UX007 treatment through the end of the study (up to 2072 days)
Annualized Duration Rate of Rhabdomyolysis MCEs
Time frame: Post-UX007 treatment through the end of the study (up to 2072 days)
Annualized Event Rate of Cardiomyopathy MCEs
Time frame: Post-UX007 treatment through the end of the study (up to 2072 days)
Annualized Duration Rate of Cardiomyopathy MCEs
Time frame: Post-UX007 treatment through the end of the study (up to 2072 days)
Annualized Event Rate of Hypoglycemic MCEs
Time frame: Post-UX007 treatment through the end of the study (up to 2072 days)
Annualized Duration Rate of Hypoglycemic MCEs
Time frame: Post-UX007 treatment through the end of the study (up to 2072 days)
Results and safety
Loading the posted results from ClinicalTrials.gov…
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 1 Aug 2023.
- Posted resultsParticipant flow, baseline, all outcome measures and adverse events.
- Background: PubMed 32885845Vockley J, Burton B, Berry G, Longo N, Phillips J, Sanchez-Valle A, Chapman K, Tanpaiboon P, Grunewald S, Murphy E, Lu X, Cataldo J. Effects of triheptanoin (UX007) in patients with long-chain fatty acid oxidation disorders: Results from an open-label, long-term extension study. J Inherit Metab Dis. 2021 Jan;44(1):253-263. doi: 10.1002/jimd.12313. Epub 2020 Sep 14.
- Background: PubMed 37276053Vockley J, Burton BK, Berry G, Longo N, Phillips J, Sanchez-Valle A, Chapman KA, Tanpaiboon P, Grunewald S, Murphy E, Lu X, Rahman S, Ray K, Reineking B, Pisani L, Ramirez AN. Triheptanoin for the treatment of long-chain fatty acid oxidation disorders: Final results of an open-label, long-term extension study. J Inherit Metab Dis. 2023 Sep;46(5):943-955. doi: 10.1002/jimd.12640. Epub 2023 Jun 19.
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Medical Director study director
Ultragenyx Inc.
11 sites in 2 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 2 study testing UX007 in people with Carnitine Palmitoyltransferase (CPT I or CPT II) Deficiency and Very Long Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency, run by Ultragenyx Pharmaceutical Inc at 11 sites in 2 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 7 inclusion and 5 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 1 Aug 2023. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 11 sites in United States, United Kingdom. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
What does this phase mean?
Phase 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
Yes. Results are posted in the registry (first posted 8 Dec 2021). A summary is in the For doctors view, and the full results are on ClinicalTrials.gov.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Annualized LC-FAOD Major Clinical Events (MCEs) Rate: 18 Months Pre- and Entire UX007 Period Comparison for UX007-CL201-Rollover Cohort (time frame: Pre-UX007 treatment period (up to 18 months) and post-UX007 treatment period (up to 2072 days)). The study lists 3 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT02214160, which also lists 2 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 1 Aug 2023.