Long-chain Fatty Acid Oxidation Disorders (LC-FAOD) MedDRA version: 20.0 Level: PT Classification code 10077951 Term: Fatty acid oxidation disorder System Organ Class: 10010331 - Congenital, familial and genetic disorders
Conditions
Sponsors
Ultragenyx Pharmaceutical Inc.
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: 1. Confirmed diagnosis of LC-FAOD: carnitine palmitoyl transferase (CPT) I deficiency, CPT II deficiency, carnitine/acylcarnitine translocase (CACT) deficiency, very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency, long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency, and mitochondrial trifunctional protein (TFP) deficiency. Diagnosis must be confirmed by results of acylcarnitine profiles, fatty acid oxidation probe studies in cultured fibroblasts, or mutation analysis obtained from medical records 2. Males and females, from newborn to 2 years 3. Liver fat content = 2% and =65 years) no F.1.3.1 Number of subjects for this age range
Exclusion criteria
Exclusion criteria: 1. Enrolled in a clinical study involving concurrent use of an investigational drug product within 30 days before Screening 2. Use of a prohibited medication (eg, valproate products or pancreatic lipase inhibitors) within 30 days before Screening, or unwilling to avoid a prohibited medication or other substance that may confound study objectives 3. Treatment with triheptanoin within 60 days of Screening 4. History of known hypersensitivity to triheptanoin or MCT 5. Caregiver unwilling or unable to sign informed consent, or release of medical records, or follow study procedures 6. 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. History of metabolic decompensation(s) with metabolic acidosis, hyperammonemia, and/or liver enzyme elevations does not constitute an exclusion criterion unless in the opinion of the Investigator places the subject at increased risk of complications, interferes with study participation or compliance, or confounds study objectives. 7. Have a diagnosis of pancreatic insufficiency 8. Pregnant, breastfeeding, or planning to become pregnant (self or partner) at any time during the study. Exclusion Criteria for Liver Sub-study 1. Acute or chronic liver disease other than LC-FAOD that presents with increased risk of liver fat (eg, hepatic cirrhosis, viral toxic or drug hepatitis, diabetes mellitus) and/or metabolic syndrome
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Main Objective: Evaluate the effect of triheptanoin versus MCT on frequency of MCEs;Secondary Objective: - Evaluate the effect of triheptanoin versus MCT on reducing the duration of MCEs - Evaluate the effect of triheptanoin versus MCT on reducing the frequency of hypoglycemic events captured as MCEs and/or HCEs - Evaluate the effect of triheptanoin versus MCT on clinician-reported change in overall health status and functioning - Evaluate the effect of triheptanoin versus MCT on reducing the frequency of cardiomyopathy MCEs - Evaluate the effect of triheptanoin versus MCT on hepatic lipids (Liver Substudy – Primary) - Assess the contribution of each component MCE (rhabdomyolysis, cardiomyopathy, and hypoglycemia) to the composite MCE primary endpoint (which includes all 3 types of MCEs) - Assess the effect of triheptanoin versus MCT on physical health, psychosocial health, and total HRQoL - Evaluate the effect of triheptanoin versus MCT on all-cause mortality (...) Additional Secondary objectives can be found in the protocol (section 6);Primary end point(s): Annualized event rate of MCEs during the Double-blind Treatment Period;Timepoint(s) of evaluation of this end point: Annually | — |
Secondary
| Measure | Time frame |
|---|---|
| Secondary end point(s): - Annualized duration of MCEs during the Double-blind Treatment Period - Annualized hypoglycemic event-rate captured as MCEs and/or HCEs during the Double-blind Treatment Period - Clinician-reported change in global impression of disease severity (Clinical Global Impression of Change [CGI-C] scale) score at EOS - Annualized frequency of cardiomyopathy-MCEs during the Double-blind Treatment Period - Change from baseline to 6 months in hepatic PDFF%, assessed by 1H-MRS in subjects enrolled in the Liver Substudy - Annualized frequency and duration of rhabdomyolysis-MCEs during the Double-blind Treatment Period - Annualized frequency and duration of cardiomyopathy-MCEs during the Double-blind Treatment Period - Annualized duration of hypoglycemic-MCEs during the Double-blind Treatment Period - Change from baseline to EOS in scores for: Caregiver-reported PedsQL 4.0 Generic Core Scale (physical health summary, psychosocial health summary, and total scores) (2 years of age and older) OR PedsQL Infant Scale (physical health summary, psychosocial health summary, and total scores) (ages 1 to < 24 months) - Survival time during the Double-blind Treatment Period - Change from baseline to 6 months in CK/ALT, ALT, AST in subjects enrolled in the Liver Substudy - Annualized hospitalization days during the Double-blind Treatment Period - Number of missed school or learning opportunity days during the Double-blind Treatment Period - Frequency, severity, and relationship to study drug of TEAEs, serious TEAEs, and AESIs - Incidence of TEAEs and serious TEAEs leading to dose modifications, dose reductions, treatment interruptions, discontinuations from study drug, and discontinuations from the study;Timepoint(s) of evaluation of this end point: N/A - variable | — |
Countries
Czechia, Czech Republic, Germany, Poland, Saudi Arabia, Spain, Turkey, United Kingdom
Contacts
Public ContactUX007-CL302 Clinical Operations
Ultragenyx Pharmaceutical Inc.
Outcome results
None listed