An observational study in Long-chain Fatty Acid Oxidation Disorders (LC-FAOD), sponsored by Ultragenyx Pharmaceutical Inc. Active, not recruiting at 16 sites in 2 countries. Per ClinicalTrials.gov, last updated 2026-06-03.
Sponsored by Ultragenyx Pharmaceutical Inc · Observational
The primary objective of this study is to assess the long-term safety, including pregnancy, infant, and lactation outcomes, of patients with LC-FAOD who are enrolled in the DMP.
The LC-FAOD Disease Monitoring Program (DMP) is an international, long-term, retrospective and prospective outcomes study aiming to collect safety and effectiveness data for triheptanoin and the natural history of LC-FAOD for a study duration of up to 10 years from adult and pediatric patients with LC-FAOD, with any previous disease management, regardless of prior treatment with triheptanoin, those who have previously participated in triheptanoin clinical trials, and those who received triheptanoin through an Expanded Access Program (EAP).
Patients enrolling in the LC-FAOD DMP will be managed at the discretion of their physicians and may or may not be treated with triheptanoin during the course of the study. Patients will have access to triheptanoin only through authorized commercial use (if approved in their country) or available EAP but not from the LC-FAOD DMP itself.
Ultragenyx Pharmaceutical Inc is the lead sponsor of 63 studies on the registry; 8 are open to participants now.
Of its 13 completed or terminated interventional studies of FDA-regulated products, 11 (85%) have results posted.
Counted across the registry records on this site, refreshed daily.
Approximately 150 patients, either treated or untreated with triheptanoin, will be enrolled for this study.
Exclusion Criteria:
Patients who have been previously treated with triheptanoin in clinical studies: UX007-CL201 (NCT01886378), UX007-CL202 (NCT02214160), UX007-CL302 (2022-001539-10), Investigator Sponsored Trials (ISTs), or UX007-EAP (NCT03773770).
Other: No Intervention
New patients enrolling into the DMP currently or previously treated with triheptanoin (excluding those in Cohort 1).
Other: No Intervention
New patients enrolling into the DMP with no exposure to triheptanoin (naïve).
Other: No Intervention
No Intervention
Long-Term Safety of Patients With LC-FAOD as Assessed by Incidence, Severity, and Frequency of Serious Adverse Events (SAEs) and Adverse Events (AEs) in Pregnant and Lactating Patients with LC-FAOD
Time frame: 10 Years
Long-Term Safety of Patients With LC-FAOD as Assessed by Outcomes of Pregnancy in Patients with LC-FAOD
Time frame: 10 Years
Long-Term Safety of Patients With LC-FAOD as Assessed by Incidence, Frequency, and Severity of SAEs and AEs During the First Year of Life in Infants Born to Study Participants
Time frame: 10 Years
Long-Term Safety of Patients With LC-FAOD as Assessed by Incidence of SAEs Assessed as Related to Triheptanoin Treatment by Study Investigator
Time frame: 10 Years
Long-Term Safety of Patients With LC-FAOD as Assessed by Incidence of All Colon Cancer or Gastrointestinal (GI) Cancer, GI Dysplasia, and GI Neoplasia, SAEs and AEs Reported for All Patients With LC-FAOD
Time frame: 10 Years
Long-Term Effectiveness of Triheptanoin in Patients With LC-FAOD as Assessed by Major Clinical Events (MCEs)
Frequency and duration of MCEs including events of rhabdomyolysis, cardiomyopathy, hypoglycemia, and other disease complications
Time frame: 10 Years
Long-Term Effectiveness of Triheptanoin in Patients With LC-FAOD as Assessed by At-Home Clinical Events (HCEs)
Frequency and duration of HCEs including events of hypoglycemia, rhabdomyolysis, cardiomyopathy, and other disease complications
Time frame: 10 Years
Long-Term Effectiveness of Triheptanoin in Patients With LC-FAOD as Assessed by Mortality
Time frame: 10 Years
Long-Term Effectiveness of Triheptanoin in Patients With LC-FAOD as Assessed by Height
Time frame: 10 Years
Long-Term Effectiveness of Triheptanoin in Patients With LC-FAOD as Assessed by Weight
Time frame: 10 Years
Long-Term Effectiveness of Triheptanoin in Patients With LC-FAOD as Assessed by Head Circumference
Time frame: 10 Years
Long-Term Effectiveness of Triheptanoin in Patients With LC-FAOD as Assessed by Body Mass Index (BMI)
Time frame: 10 Years
Long-Term Effectiveness of Triheptanoin in Patients With LC-FAOD as Assessed by Distance Travelled in the 12-Minute Walk Test (12MWT)
Time frame: 10 Years
Long-Term Effectiveness of Triheptanoin in Patients With LC-FAOD as Assessed by Change from Baseline in Echocardiogram (ECHO) Parameters: Left Ventricular Mass Index
Time frame: 10 Years
Long-Term Effectiveness of Triheptanoin in Patients With LC-FAOD as Assessed by Change from Baseline in Echocardiogram (ECHO) Parameters: Left Ventricular Ejection Fraction
Time frame: 10 Years
Long-Term Effectiveness of Triheptanoin in Patients With LC-FAOD as Assessed by Incidence and Type of Cardiac Arrhythmia
Time frame: 10 Years
Long-Term Effectiveness of Triheptanoin in Patients With LC-FAOD as Assessed by Change from Baseline in Alanine Aminotransferase (ALT)
Time frame: 10 Years
Long-Term Effectiveness of Triheptanoin in Patients With LC-FAOD as Assessed by Change from Baseline in Total Creatine Kinase (CK)
Time frame: 10 Years
Long-Term Effectiveness of Triheptanoin in Patients With LC-FAOD as Assessed by Change from Baseline in Select Acylcarnitines
Time frame: 10 Years
Dose-Response Relationship of Triheptanoin and Even-Chain MCT as Assessed by Incidence of MCEs and HCEs With Consideration of Diet
Time frame: 10 Years
Impact of Triheptanoin on Patient- and Clinician-Reported Measures of Disease Severity and Burden as Assessed by the Clinical Global Impression of Severity (CGI-S) Assessment
Time frame: 10 Years
Impact of Triheptanoin on Patient- and Clinician-Reported Measures of Disease Severity and Burden as Assessed by the Infant and Toddler Quality of Life (ITQOL)
Time frame: 10 Years
Impact of Triheptanoin on Patient- and Clinician-Reported Measures of Disease Severity and Burden as Assessed by the Medical Outcomes Study 10-Item Short Form (SF-10)
Time frame: 10 Years
Impact of Triheptanoin on Patient- and Clinician-Reported Measures of Disease Severity and Burden as Assessed by the Medical Outcomes Study 12-Item Short Form (SF-12 v2)
Time frame: 10 Years
Impact of Triheptanoin on Patient- and Clinician-Reported Measures of Disease Severity and Burden as Assessed by Medical Resource Utilization
Time frame: 10 Years
Impact of Triheptanoin on Patient- and Clinician-Reported Measures of Disease Severity and Burden as Assessed by Assistive Device Use
Time frame: 10 Years
Impact of Triheptanoin on Patient- and Clinician-Reported Measures of Disease Severity and Burden as Assessed by the Work Productivity Questionnaire
Time frame: 10 Years
Impact of Triheptanoin on Patient- and Clinician-Reported Measures of Disease Severity and Burden as Assessed by the School Impact Questionnaire
Time frame: 10 Years
Impact of Triheptanoin on Patient- and Clinician-Reported Measures of Disease Severity and Burden as Assessed by Long-Term Complications of LC-FAOD
May include retinopathy and peripheral neuropathy or other sensory and motor complications
Time frame: 10 Years
This study is active, not recruiting, as verified in Jun 2026. You cannot join it, but the record below documents what was studied.
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Carnitine-Acylcarnitine Translocase Deficiency
Ultragenyx Pharmaceutical Inc