6 Months and older, any sex, with Long-chain Fatty Acid Oxidation Disorders (LC-FAOD) or Carnitine Palmitoyltransferase (CPT II) Deficiency. Patients with the condition only — healthy volunteers not accepted.
Results — posted to ClinicalTrials.gov
Per-arm endpoint measurements with 95% confidence intervals where reported. Source: trial results section.
Change From Baseline in Time Adjusted-Area Under the Curve (AUC/Time) for Workload During Cycle Ergometry at Week 24Primary· Baseline, Week 24
To evaluate the impact 24 weeks of treatment with UX007 has on exercise intolerance, the change from Baseline in time adjusted-AUC (AUC/time) for workload during 40-minute cycle ergometry tests at Week 24 were assessed using the generalized estimation equation (GEE) model. A cycle ergometer can measure the work performed by an individual over time during physical exercise, the work was measured every 10 minutes from 0 to 40 minutes at Baseline and Week 24. The GEE model included the change from Baseline as the dependent variable, time as the categorical variable, and adjusted for Baseline meas
Group
Value
95% CI
UX007
423.594
± 295.54
Change From Baseline in Time-Adjusted-AUC for Respiratory Exchange Ratio (RER) During Cycle Ergometry at Week 24Primary· Baseline, Week 24
Change from baseline in time-adjusted-AUC for respiratory exchange ratio (RER) during cycle ergometry at Week 24, assessed using the GEE model, which included change from baseline as dependent variable, time as categorical variable, and adjusted for baseline measurement with compound symmetry covariance structure.
RER during exercise is calculated as volume of carbon dioxide/volume of oxygen. RER measures whether carbohydrates or fats are being used as fuel. RER ≥1.0 indicates carbohydrates are the predominate fuel source. RER \<1.0 and RER \>0.70 indicates both fats and carbohydrates are the
Group
Value
95% CI
UX007
-0.011
± 0.0132
Change From Baseline in Actual Duration of Exercise During Cycle Ergometry at Week 24Primary· Baseline, Week 24
To evaluate the impact of 24 weeks of treatment with UX007 on exercise intolerance, the change from Baseline in actual duration of exercise during 40-minute cycle ergometry tests at Week 24 was assessed using the GEE model. The GEE model included the change from Baseline as the dependent variable, time as the categorical variable, and adjusted for Baseline measurement with compound symmetry covariance structure. Duration of exercise is expected to increase as exercise tolerance improves.
Group
Value
95% CI
UX007
4.671
± 2.65
Change From Baseline in Distance Traveled During the 12-Minute Walk Test (12MWT) at Week 18Primary· Baseline (last assessment during the 4-week run-in period), Week 18
To evaluate the impact 18 weeks of treatment with UX007 has on muscle function, the change from Baseline in distance traveled during a 12MWT at Week 18 was assessed using the GEE model. The GEE model included the change from Baseline as the dependent variable, time as the categorical variable, and adjusted for Baseline measurement with compound symmetry covariance structure. Distance traveled during the 12MWT is expected to increase as muscle function increases.
Group
Value
95% CI
UX007
181.37
± 104.63
Change From Baseline in Energy Expenditure Index (EEI) During the 12MWT at Week 18Primary· Baseline (last assessment during the 4-week run-in period), Week 18
To evaluate the impact 18 weeks of treatment with UX007 has on muscle function, the change from Baseline of EEI during the 12MWT at Week 18 was assessed using the GEE model. The GEE model included the change from Baseline as the dependent variable, time as the categorical variable, and adjusted for Baseline measurement with compound symmetry covariance structure. EEI is quantified as the post-test heart rate minus the pre-test heart rate (in beats/min) divided by overall velocity, and is valued in beats/meter. A decrease in EEI when walking a similar distance or no change when walking longer d
Group
Value
95% CI
UX007
-0.185
± 0.09
Change From Baseline in Percentage of the Predicted 6-Minute Walk Test (6MWT) Distance Walked at Week 18Primary· Baseline (last assessment during the 4-week run-in period), Week 18
To evaluate the impact 18 weeks of treatment with UX007 has on muscle function, the change from Baseline in the percentage of the predicted distance traveled during the first 6 minutes (6MWT) of the 12MWT at Week 18 was assessed using the GEE model. A participant's mathematical formula to calculate their percent predicted (PP) distance walked in the 6MWT was based on their demographics at baseline. For participants \< 20 years old, the formula used was referenced from (Gieger, et. al. 2007) which calculated PP distance walked based on age, gender, and height. For participants \>= 20 years old,
Group
Value
95% CI
UX007
12.44
± 7.22
Change From Baseline in Physical Summary Score (PHS-10) of the Short Form 10 (SF-10) at Week 24Primary· Baseline, Week 24
To evaluate the impact treatment with UX007 has on functional disability and health in participants between 5 and 17 years of age, change from Baseline in the T-scores of the PHS-10 were assessed at Week 24 and analyzed using the GEE model. The GEE model included the change from Baseline as the dependent variable, time as the categorical variable, and adjusted for Baseline measurement with compound symmetry covariance structure.
The SF-10 Health Survey for Children is a 10-item caregiver-completed assessment designed to measure children's health-related quality of life. The PHS-10 of the SF-1
Group
Value
95% CI
UX007
2.16
± 2.16
Change From Baseline in Psychosocial Summary Score (PSS-10) of the SF10 at Week 24Primary· Baseline, Week 24
To evaluate the impact treatment with UX007 has on functional disability and health in participants between 5 and 17 years of age, changes from Baseline in the T-scores of the PSS-10 were assessed at Week 24 and analyzed using the GEE model. The GEE model included the change from Baseline as the dependent variable, time as the categorical variable, and adjusted for Baseline measurement with compound symmetry covariance structure.
The PSS-10 of the SF-10 is scored such that higher scores indicate more favorable functioning. The T-score based scoring signifies that scale scores are centered so
Group
Value
95% CI
UX007
0.816
± 2.63
Change From Baseline in the Physical Component Summary Scale (PCS-12) at Week 24Primary· Baseline, Week 24
Changes from baseline in T-scores as assessed by the PCS-12 Short-Form Health Survey, version 2 (SF-12v2) at Week 24 were assessed using the GEE model, which included the change from Baseline as the dependent variable, time as the categorical variable, and adjusted for Baseline measurement with compound symmetry covariance structure.
PCS-12 scores were calculated from the individual responses to those questions that contribute to physical health. Raw scores range from 0 to 100 with higher scores indicating better health. The T-score based scoring signifies that scale scores are centered so th
Group
Value
95% CI
UX007
8.88
± 1.63
Change From Baseline in the Mental Component Summary Scale (MCS-12) at Week 24Primary· Baseline, Week 24
Changes from baseline of T-scores as assessed by the MCS-12 of the SF-12v2 at Week 24 were assessed using the GEE model, which included the change from Baseline as the dependent variable, time as the categorical variable, and adjusted for Baseline measurement with compound symmetry covariance structure.
MCS-12 scores were calculated from the individual responses to those questions that contribute to mental health. Raw scores range from 0 to 100 with higher scores indicating better health. The T-score based scoring signifies that scale scores are centered so that a score of 50 corresponds to t
Group
Value
95% CI
UX007
9.7
± 4.0
Annualized Event Rate of All Major Clinical Events Pre- and Post-Treatment With UX007Primary· 18 months before and after UX007 initiation
Major clinical events are defined as adverse events (AEs) resulting in hospitalizations, emergency room (ER) visits, and emergency intervention.
Pre-UX007
Group
Value
95% CI
UX007
1.69
± 1.6081
Post-UX007
Group
Value
95% CI
UX007
0.877
± 1.142
Annualized Duration Rate of All Major Clinical Events Pre- and Post-Treatment With UX007Primary· 18 months before and after UX007 initiation
Major clinical events are defined as AEs resulting in hospitalizations, ER visits, and emergency intervention.
Pre-UX007
Group
Value
95% CI
UX007
5.961
± 6.0783
Post-UX007
Group
Value
95% CI
UX007
2.964
± 3.9733
Adverse events — posted to ClinicalTrials.gov
Time frame: From the first dose of UX007 through the Follow-up visit (Week 82) or 30 days following the last UX007 administration..
Reporting threshold: 5%.
Adverse-event reports describe events observed during the trial — not all are caused by the drug.
UX007
Serious: 19/29 (66%)
Deaths: 0/29
Serious adverse events (26 terms)
Reaction
System
UX007
Rhabdomyolysis
Musculoskeletal and connective tissue disorders
—
Gastroenteritis
Infections and infestations
—
Gastroenteritis Viral
Infections and infestations
—
Gastrointestinal Viral Infection
Infections and infestations
—
Upper Respiratory Tract Infection
Infections and infestations
—
Infection Prophylaxis
Surgical and medical procedures
—
Cardiomyopathy Acute
Cardiac disorders
—
Talipes
Congenital, familial and genetic disorders
—
Atelectasis
Respiratory, thoracic and mediastinal disorders
—
Gastrointestinal Disorder
Gastrointestinal disorders
—
Gastrointestinal Haemorrhage
Gastrointestinal disorders
—
Vomiting
Gastrointestinal disorders
—
Menorrhagia
Reproductive system and breast disorders
—
Metabolic Disorder
Metabolism and nutrition disorders
—
Adenoviral Upper Respiratory Infection
Infections and infestations
—
Adenovirus Infection
Infections and infestations
—
Conjunctivitis
Infections and infestations
—
Coxsackie Viral Infection
Infections and infestations
—
Croup Infectious
Infections and infestations
—
Otitis Media
Infections and infestations
—
Otitis Media Acute
Infections and infestations
—
Pneumonia Mycoplasmal
Infections and infestations
—
Respiratory Tract Infection Viral
Infections and infestations
—
Roseola
Infections and infestations
—
Urinary Tract Infection
Infections and infestations
—
Other adverse events (55 terms — click to expand)
Reaction
System
UX007
Diarrhoea
Gastrointestinal disorders
—
Vomiting
Gastrointestinal disorders
—
Upper Respiratory Tract Infection
Infections and infestations
—
Pyrexia
General disorders
—
Headache
Nervous system disorders
—
Abdominal Pain
Gastrointestinal disorders
—
Rhabdomyolysis
Musculoskeletal and connective tissue disorders
—
Myalgia
Musculoskeletal and connective tissue disorders
—
Ear Infection
Infections and infestations
—
Nasopharyngitis
Infections and infestations
—
Cough
Respiratory, thoracic and mediastinal disorders
—
Abdominal Pain Upper
Gastrointestinal disorders
—
Decreased Appetite
Metabolism and nutrition disorders
—
Bronchitis
Infections and infestations
—
Gastroenteritis Viral
Infections and infestations
—
Gastrointestinal Viral Infection
Infections and infestations
—
Rhinitis
Infections and infestations
—
Viral Upper Respiratory Tract Infection
Infections and infestations
—
Pain
General disorders
—
Arthropod Bite
Injury, poisoning and procedural complications
—
Fall
Injury, poisoning and procedural complications
—
Blood Creatine Phosphokinase Increased
Investigations
—
Nasal Congestion
Respiratory, thoracic and mediastinal disorders
—
Oropharyngeal Pain
Respiratory, thoracic and mediastinal disorders
—
Gastrointestinal Pain
Gastrointestinal disorders
—
Gastrooesophageal Reflux Disease
Gastrointestinal disorders
—
Acne
Skin and subcutaneous tissue disorders
—
Conjunctivitis
Infections and infestations
—
Gastroenteritis
Infections and infestations
—
Sinusitis
Infections and infestations
—
Urinary Tract Infection
Infections and infestations
—
Melanocytic Naevus
Neoplasms benign, malignant and unspecified (incl cysts and polyps)
The primary objective of the study was to evaluate the impact of UX007 on acute clinical pathophysiology associated with LC-FAOD following 24 weeks of treatment.
Publications & conference data
7 peer-reviewed publications reference this trial (live from Europe PMC):
NCT02960217 — Crossover Study to Assess the Efficacy and Safety of UX007 in the Treatment of Movement Disorders Associated With Glucos
· Phase 3
· terminated
NCT02599961 — Study to Assess the Long Term Safety and Efficacy of UX007 in Participants With Glucose Type 1 Deficiency Syndrome (Glut
· Phase 2
· terminated
NCT02214160 — Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD) Extension Study for Subjects Previously Enrolled in Triheptanoin Stu
· Phase 2
· completed
NCT01993186 — Phase 2 Study of Triheptanoin (UX007) for the Treatment of Glucose Transporter Type 1 Deficiency Syndrome (Glut1 DS)
· Phase 2
· completed
NCT05196165 — Clinical Survey Study to Assess Physical Function and the Incidence of Hypoglycemia in Participants With Glycogen Storag
· terminated
NCT05312697 — Long-term Extension Study of Setrusumab in Adults With Type I, III, or IV Osteogenesis Imperfecta
· Phase 2
· terminated
NCT04783428 — Tumor-induced Osteomalacia Disease Monitoring Program
· active not recruiting
NCT05139316 — A Study of Adeno-Associated Virus Serotype 8-Mediated Gene Transfer of Glucose-6-Phosphatase in Patients With Glycogen S
· Phase 3
· completed
Publications: Europe PMC API search by NCT ID, retrieved 10 June 2026
Drug + disease cross-links: matched in real time against Drug Landscape's normalised drug + company + condition tables
Sponsor: as reported to ClinicalTrials.gov by Ultragenyx Pharmaceutical Inc
Last refreshed: 11 February 2021
Drug Landscape aggregates and links these public records for informational use only. Always verify against the primary source before clinical or regulatory decisions. Canonical URL: https://druglandscape.com/trial/NCT01886378.