Long-chain Fatty Acid Oxidation Disorders (LC-FAOD)NCT04632953
Long-Chain Fatty Acid Oxidation Disorders In-Clinic Disease Monitoring Program
An observational study of Long-chain Fatty Acid Oxidation Disorders (LC-FAOD), run by Ultragenyx Pharmaceutical Inc at 16 sites in 2 countries.
Trial summary
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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Long-chain Fatty Acid Oxidation Disorders (LC-FAOD)
- How many people
- 150 participants
- Where
- 16 sitesin 2 countries
- Study dates
- 30 Nov 2021to Dec 2035
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
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 Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Approximately 150 patients, either treated or untreated with triheptanoin, will be enrolled for this study.
Who may be able to join
- Confirmed diagnosis of any LC-FAOD subtype. Diagnosis must be confirmed by results of acylcarnitine profiles and/or genetic testing results obtained from medical records or equivalent documentation.
- Willing and able to comply with all study procedures.
- Willing and able to provide consent or, if a minor, provide assent and informed consent by their legally authorized representative.
- Females of childbearing potential who become pregnant during the study will be invited to remain in the study. Pregnant females with LC-FAOD will be informed of the study and invited to enroll.
Who cannot join
- Presence of a concurrent disease or condition that would interfere with study participation or affect patient's safety in the opinion of the Investigator.
- Presence or history of any condition that, in the view of the Investigator, places the patient at high risk of not completing the study or would affect the interpretation of study results.
Trial locations and contacts
16 sites in 2 countries.
16 sites in 2 countries
United States13 sites
The Emory Clinic
Atlanta, Georgia, 30322
Children's Hospital of Colorado
Aurora, Colorado, 80045
Boston Children's Hospital
Boston, Massachusetts, 02215
Ann & Robert H. Lurie Children's Hospital
Chicago, Illinois, 60611
Nationwide Children's Hospital
Columbus, Ohio, 43205
University of Minnesota
Minneapolis, Minnesota, 55454
Columbia University
New York, New York, 10032
Phoenix Children's Hospital
Phoenix, Arizona, 85016
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, 94158
Seattle Children's Hospital
Seattle, Washington, 98020
University of South Florida
Tampa, Florida, 33606
Canada3 sites
University of Alberta
Edmonton, Alberta, T6G 1C9
CHEO (Children's Hospital Eastern Ontario)
Ottawa, Ontario, K1H 8L1
SickKids (The Hospital for Sick Children)
Toronto, Ontario, M5G 1X8
About this study
Official title: Long-Chain Fatty Acid Oxidation Disorders In-Clinic Disease Monitoring Program (LC-FAOD DMP)
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.
Read the detailed description
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.
- Being tested
- No Intervention
- Keywords
- CACT Deficiency, Carnitine Acylcarnitine Translocase Deficiency, CPT1, CPT2, Carnitine Palmitoyltransferase Deficiencies, VLCAD, Very Long Chain Acyl Coa Dehydrogenase Deficiency, LCHAD Deficiency, Long-chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency, TFP Deficiency, Trifunctional Protein Deficiency
- Medical subject headings
- Carnitine-Acylcarnitine Translocase Deficiency, VLCAD deficiency, Trifunctional Protein Deficiency With Myopathy And Neuropathy
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
No InterventionOther
No Intervention
| Study group | Role | What they receive |
|---|---|---|
| Cohort 1: Previously Treated with Triheptanoin | 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). Receives: Other: No Intervention | |
| Cohort 2: Currently or Previously Treated with Triheptanoin | New patients enrolling into the DMP currently or previously treated with triheptanoin (excluding those in Cohort 1). Receives: Other: No Intervention | |
| Cohort 3: Triheptanoin Naïve | New patients enrolling into the DMP with no exposure to triheptanoin (naïve). Receives: Other: No Intervention |
What is being measured
The primary outcome is the main question the study is designed to answer.
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
Measured: 10 Years
Long-Term Safety of Patients With LC-FAOD as Assessed by Outcomes of Pregnancy in Patients with LC-FAOD
Measured: 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
Measured: 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
Measured: 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
Measured: 10 Years
Secondary outcomes (24)
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
Measured: 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
Measured: 10 Years
Long-Term Effectiveness of Triheptanoin in Patients With LC-FAOD as Assessed by Mortality
Measured: 10 Years
Long-Term Effectiveness of Triheptanoin in Patients With LC-FAOD as Assessed by Height
Measured: 10 Years
Long-Term Effectiveness of Triheptanoin in Patients With LC-FAOD as Assessed by Weight
Measured: 10 Years
Long-Term Effectiveness of Triheptanoin in Patients With LC-FAOD as Assessed by Head Circumference
Measured: 10 Years
Long-Term Effectiveness of Triheptanoin in Patients With LC-FAOD as Assessed by Body Mass Index (BMI)
Measured: 10 Years
Long-Term Effectiveness of Triheptanoin in Patients With LC-FAOD as Assessed by Distance Travelled in the 12-Minute Walk Test (12MWT)
Measured: 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
Measured: 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
Measured: 10 Years
Long-Term Effectiveness of Triheptanoin in Patients With LC-FAOD as Assessed by Incidence and Type of Cardiac Arrhythmia
Measured: 10 Years
Long-Term Effectiveness of Triheptanoin in Patients With LC-FAOD as Assessed by Change from Baseline in Alanine Aminotransferase (ALT)
Measured: 10 Years
Long-Term Effectiveness of Triheptanoin in Patients With LC-FAOD as Assessed by Change from Baseline in Total Creatine Kinase (CK)
Measured: 10 Years
Long-Term Effectiveness of Triheptanoin in Patients With LC-FAOD as Assessed by Change from Baseline in Select Acylcarnitines
Measured: 10 Years
Dose-Response Relationship of Triheptanoin and Even-Chain MCT as Assessed by Incidence of MCEs and HCEs With Consideration of Diet
Measured: 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
Measured: 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)
Measured: 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)
Measured: 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)
Measured: 10 Years
Impact of Triheptanoin on Patient- and Clinician-Reported Measures of Disease Severity and Burden as Assessed by Medical Resource Utilization
Measured: 10 Years
Impact of Triheptanoin on Patient- and Clinician-Reported Measures of Disease Severity and Burden as Assessed by Assistive Device Use
Measured: 10 Years
Impact of Triheptanoin on Patient- and Clinician-Reported Measures of Disease Severity and Burden as Assessed by the Work Productivity Questionnaire
Measured: 10 Years
Impact of Triheptanoin on Patient- and Clinician-Reported Measures of Disease Severity and Burden as Assessed by the School Impact Questionnaire
Measured: 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
Measured: 10 Years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted17 Nov 2020
- Study start30 Nov 2021
- Primary completionDec 2035 (estimated)
- Study completionDec 2035 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Long-chain Fatty Acid Oxidation Disorders (LC-FAOD)Studies 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
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 150 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 Pharmaceutical Inc
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04632953
- Sponsor's protocol ID
- UX007-CL401
- Status last verified
- Jun 2026
- First submitted
- 9 Nov 2020
- Last updated
- 3 Jun 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 3 Jun 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Long-Chain Fatty Acid Oxidation Disorders In-Clinic Disease Monitoring Program (LC-FAOD DMP)
- ClinicalTrials.gov ID
- NCT04632953
- Acronym / sponsor ID
- UX007-CL401
- Keywords
- CACT Deficiency, Carnitine Acylcarnitine Translocase Deficiency, CPT1, CPT2, Carnitine Palmitoyltransferase Deficiencies, VLCAD, Very Long Chain Acyl Coa Dehydrogenase Deficiency, LCHAD Deficiency
- Study type
- Observational
- Recruitment status
- Active, not recruiting
- Enrolment
- 150 participants (actual)
- Lead sponsor
- Ultragenyx Pharmaceutical IncIndustry (pharma, biotech, devices)
- Study start
- 30 Nov 2021 (actual)
- Primary completion
- Dec 2035 (estimated)
- Study completion
- Dec 2035 (estimated)
- First posted
- 17 Nov 2020 (actual)
- Results
- Not posted in the source record
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 assess the long-term safety, including pregnancy, infant, and lactation outcomes, of patients with LC-FAOD who are enrolled in the DMP.
Detailed description
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| Cohort 1: Previously Treated with Triheptanoin | – | Other: No InterventionPatients 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). |
| Cohort 2: Currently or Previously Treated with Triheptanoin | – | Other: No InterventionNew patients enrolling into the DMP currently or previously treated with triheptanoin (excluding those in Cohort 1). |
| Cohort 3: Triheptanoin Naïve | – | Other: No InterventionNew patients enrolling into the DMP with no exposure to triheptanoin (naïve). |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Approximately 150 patients, either treated or untreated with triheptanoin, will be enrolled for this study.
Key inclusion criteria (4 listed)
- Confirmed diagnosis of any LC-FAOD subtype. Diagnosis must be confirmed by results of acylcarnitine profiles and/or genetic testing results obtained from medical records or equivalent documentation.
- Willing and able to comply with all study procedures.
- Willing and able to provide consent or, if a minor, provide assent and informed consent by their legally authorized representative.
- Females of childbearing potential who become pregnant during the study will be invited to remain in the study. Pregnant females with LC-FAOD will be informed of the study and invited to enroll.
Key exclusion criteria (2 listed)
- Presence of a concurrent disease or condition that would interfere with study participation or affect patient's safety in the opinion of the Investigator.
- Presence or history of any condition that, in the view of the Investigator, places the patient at high risk of not completing the study or would affect the interpretation of study results.
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 |
|---|---|---|
| No InterventionNo Intervention | Other | Cohort 1: Previously Treated with Triheptanoin, Cohort 2: Currently or Previously Treated with Triheptanoin, Cohort 3: Triheptanoin Naïve |
Primary outcome
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
24 secondary outcomes
Long-Term Effectiveness of Triheptanoin in Patients With LC-FAOD as Assessed by Major Clinical Events (MCEs)
Time frame: 10 Years
Long-Term Effectiveness of Triheptanoin in Patients With LC-FAOD as Assessed by At-Home Clinical Events (HCEs)
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
Time frame: 10 Years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 3 Jun 2026.
- Ultragenyx Patient Advocacy/LC-FAOD Disease InformationLink provided by the sponsor.
- Ultragenyx Transparency CommitmentLink provided by the sponsor.
Related trials for Long-chain Fatty Acid Oxidation Disorders (LC-FAOD)
Active, not recruitingPhase 3
A Study to Determine the Effect of Triheptanoin Compared With Even-Chain MCT on MCEs in Pediatric Patients With LC-FAOD
Long-chain Fatty Acid Oxidation Disorders (LC-FAOD)
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 Pharmaceutical Inc
16 sites in 2 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Long-chain Fatty Acid Oxidation Disorders (LC-FAOD), run by Ultragenyx Pharmaceutical Inc at 16 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 4 inclusion and 2 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: under way, not looking for participants, as of the sponsor's last update on 3 Jun 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 16 sites in United States, Canada. 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.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
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?
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). The study lists 5 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 3 Jun 2026.