Long-chain Fatty Acid Oxidation Disorders (LC-FAOD)NCT04812106
Long-Chain Fatty Acid Oxidation Disorders Online Disease Monitoring Program
An observational study of Long-chain Fatty Acid Oxidation Disorders (LC-FAOD), run by Ultragenyx Pharmaceutical Inc at 1 site in United States.
Trial summary
The objectives of this study are to characterize the disease impact, the disease management and resource utilization, and provide benefits to the LC-FAOD community, by use of a convenient online platform for participants (or caregivers) to self-report information. 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
- 8 participants
- Where
- 1 siteUnited States
- Study dates
- 25 Jul 2022to 27 Oct 2022
- Phase
- Observational
- Are there results?
- None posted in the registry
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: The aim of the online LC-FAOD DMP is to enroll a broad spectrum of individuals with confirmed diagnosis of any LC-FAOD type. No limit will be placed on sample size. Individuals of all ages, including caregivers of newborns and minors, are eligible to participate.
Who may be able to join
- Diagnosis of LC-FAOD including: carnitine palmitoyltransferase (CPT I or CPT II) deficiency, very long chain acyl-CoA dehydrogenase (VLCAD) deficiency, long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency, trifunctional protein (TFP) deficiency, or carnitine-acylcarnitine translocase (CACT) deficiency.
- Willing and able to provide consent or, if a minor, provide assent and informed consent by their legally authorized representative.
- Access to the internet and an internet-enabled device.
- Reside in the geographical regions where the platform is supported and approved by applicable IRB/IEC and /or health authority.
- Not receiving triheptanoin through an Ultragenyx-sponsored interventional clinical trial or Ultragenyx Investigator Sponsored Trial (IST). NOTE: Individuals are eligible to participate in this online DMP if they previously participated in UX007 clinical trials, are currently participating in the in clinic UX007-CL401 (NCT04632953), are receiving triheptanoin through Expanded Access or Compassionate Use programs, or are receiving commercially available triheptanoin via prescription.
Who cannot join
None listed.
Trial locations and contacts
1 site in 1 country.
United States1 site
Children's Hospital of Pittsburgh of UPMC
Pittsburgh, Pennsylvania, 15224
About this study
Official title: Long Chain Fatty Acid Oxidation Disorders (LC-FAOD) Online Disease Monitoring Program (DMP)
The objectives of this study are to characterize the disease impact, the disease management and resource utilization, and provide benefits to the LC-FAOD community, by use of a convenient online platform for participants (or caregivers) to self-report information.
Read the detailed description
The online LC-FAOD DMP is a non-interventional, prospective, observational disease-monitoring program conducted through a mobile/web-based application developed by the Sponsor. Participant data will be captured via the mobile/web-based application and entered into the database designed and maintained by the Sponsor and/or its designee. Additional objectives of the study are to benefit the LC-FAOD community by developing a comprehensive database for use by the LC-FAOD community to characterize patient experience, inform disease management, and enable further research, utilize the digital platform to notify patients, caregivers, and relevant patient advocacy groups of research studies and clinical trials and share aggregated and de-identified outputs to facilitate the exchange of information with patients and/or caregivers.
Participants can be on any treatment in order to participate. Medical management of the disease should continue as directed by the patient's physician(s). Specifically, no treatments, investigational agents, or experimental interventions will be provided as part of this online LC-FAOD DMP.
- Being tested
- No Intervention
- Keywords
- CACT Deficiency, Carnitine Acylcarnitine Translocase Deficiency, Long-chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency, TFP Deficiency, Trifunctional Protein Deficiency, CPT1, CPT2, Carnitine Palmitoyltransferase Deficiencies, Very Long Chain Acyl Coa Dehydrogenase Deficiency, VLCAD, LCHAD, CPT I, CPT II
- Medical subject headings
- Carnitine-Acylcarnitine Translocase Deficiency, Trifunctional Protein Deficiency With Myopathy And Neuropathy, VLCAD deficiency
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 |
|---|---|---|
| Participants with LC-FAOD | Not described Receives: Other: No Intervention |
What is being measured
The primary outcome is the main question the study is designed to answer.
LC-FAOD Management: Nutrition and Dosing Utilized to Control LC-FAOD
Measured: 10 years
LC-FAOD At-home Interventions: Types of Interventions Used
Interventions used to prevent or mitigate Major Clinical Events (MCEs)
Measured: 10 years
LC-FAOD MCEs: Annualized Event Rate of all MCEs
MCEs include skeletal myopathy (rhabdomyolysis), hepatic (hypoglycemia, liver dysfunction), and cardiac disease (cardiomyopathy) events. An MCE is defined as any visit to the ED/acute care, hospitalization, emergency intervention (ie, any unscheduled administration of therapeutics in the clinic), or any similar event whether caused primarily by LC-FAOD or by an intercurrent illness complicated by LC-FAOD
Measured: 10 years
LC-FAOD MCEs: Annualized Event Days in the Emergency Department (ED)/Hospital for all MCEs
Measured: 10 years
LC-FAOD MCEs: Time to First MCE in all Newborn Patients (<=1 Year)
Measured: 10 years
Disease Management as Assessed by Physical Activity
Measured: 10 years
Patient Reported Outcomes: Infant and Toddler Quality of Life Questionnaire (ITQOL) Short Form
Measured: 10 years
Patient Reported Outcomes: Short-Form 10 (SF-10) Health Survey for Children
Measured: 10 years
Patient Reported Outcomes: Medical Outcomes Study 12-Item Short Form Version 2 (SF-12v2) for Adults
Measured: 10 years
Participant Survey: Patient and Caregiver-Reported Outcomes
Measured: 10 years
Participant Survey: Disease Symptoms
Measured: 10 years
Participant Survey: Schooling and Work Status
Measured: 10 years
Participant Survey: Absenteeism/Presenteeism
Measured: 10 years
Participant Survey: EuroQol Group 5-dimension 5-level (EQ-5D-5L) Instrument
Measured: 10 years
Healthcare Resource Utilization: LC-FAOD-related Medical Resource Use Over Time
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 posted23 Mar 2021
- Study start25 Jul 2022
- Primary completion27 Oct 2022
- Study completion27 Oct 2022
Why it stopped: Sponsor decision not related to safety concerns
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
- 8 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
- NCT04812106
- Sponsor's protocol ID
- UX007-CL402
- Status last verified
- Nov 2022
- First submitted
- 19 Mar 2021
- Last updated
- 18 Nov 2022
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 18 Nov 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Long Chain Fatty Acid Oxidation Disorders (LC-FAOD) Online Disease Monitoring Program (DMP)
- ClinicalTrials.gov ID
- NCT04812106
- Acronym / sponsor ID
- UX007-CL402
- Keywords
- CACT Deficiency, Carnitine Acylcarnitine Translocase Deficiency, Long-chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency, TFP Deficiency, Trifunctional Protein Deficiency, CPT1, CPT2, Carnitine Palmitoyltransferase Deficiencies
- Study type
- Observational
- Recruitment status
- TerminatedReason stopped: Sponsor decision not related to safety concerns
- Enrolment
- 8 participants (actual)
- Lead sponsor
- Ultragenyx Pharmaceutical IncIndustry (pharma, biotech, devices)
- Study start
- 25 Jul 2022 (actual)
- Primary completion
- 27 Oct 2022 (actual)
- Study completion
- 27 Oct 2022 (actual)
- First posted
- 23 Mar 2021 (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 objectives of this study are to characterize the disease impact, the disease management and resource utilization, and provide benefits to the LC-FAOD community, by use of a convenient online platform for participants (or caregivers) to self-report information.
Detailed description
The online LC-FAOD DMP is a non-interventional, prospective, observational disease-monitoring program conducted through a mobile/web-based application developed by the Sponsor. Participant data will be captured via the mobile/web-based application and entered into the database designed and maintained by the Sponsor and/or its designee. Additional objectives of the study are to benefit the LC-FAOD community by developing a comprehensive database for use by the LC-FAOD community to characterize patient experience, inform disease management, and enable further research, utilize the digital platform to notify patients, caregivers, and relevant patient advocacy groups of research studies and clinical trials and share aggregated and de-identified outputs to facilitate the exchange of information with patients and/or caregivers.
Participants can be on any treatment in order to participate. Medical management of the disease should continue as directed by the patient's physician(s). Specifically, no treatments, investigational agents, or experimental interventions will be provided as part of this online LC-FAOD DMP.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Participants with LC-FAOD | – | Other: No Intervention |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- The aim of the online LC-FAOD DMP is to enroll a broad spectrum of individuals with confirmed diagnosis of any LC-FAOD type. No limit will be placed on sample size. Individuals of all ages, including caregivers of newborns and minors, are eligible to participate.
Key inclusion criteria (5 listed)
- Diagnosis of LC-FAOD including: carnitine palmitoyltransferase (CPT I or CPT II) deficiency, very long chain acyl-CoA dehydrogenase (VLCAD) deficiency, long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency, trifunctional protein (TFP) deficiency, or carnitine-acylcarnitine translocase (CACT) deficiency.
- Willing and able to provide consent or, if a minor, provide assent and informed consent by their legally authorized representative.
- Access to the internet and an internet-enabled device.
- Reside in the geographical regions where the platform is supported and approved by applicable IRB/IEC and /or health authority.
- Not receiving triheptanoin through an Ultragenyx-sponsored interventional clinical trial or Ultragenyx Investigator Sponsored Trial (IST). NOTE: Individuals are eligible to participate in this online DMP if they previously participated in UX007 clinical trials, are currently participating in the in clinic UX007-CL401 (NCT04632953), are receiving triheptanoin through Expanded Access or Compassionate Use programs, or are receiving commercially available triheptanoin via prescription.
Key exclusion criteria (0 listed)
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 | Participants with LC-FAOD |
Primary outcome
LC-FAOD Management: Nutrition and Dosing Utilized to Control LC-FAOD
Time frame: 10 years
LC-FAOD At-home Interventions: Types of Interventions Used
Time frame: 10 years
Interventions used to prevent or mitigate Major Clinical Events (MCEs)
LC-FAOD MCEs: Annualized Event Rate of all MCEs
Time frame: 10 years
MCEs include skeletal myopathy (rhabdomyolysis), hepatic (hypoglycemia, liver dysfunction), and cardiac disease (cardiomyopathy) events. An MCE is defined as any visit to the ED/acute care, hospitalization, emergency intervention (ie, any unscheduled administration of therapeutics in the clinic), or any similar event whether caused primarily by LC-FAOD or by an intercurrent illness complicated by LC-FAOD
LC-FAOD MCEs: Annualized Event Days in the Emergency Department (ED)/Hospital for all MCEs
Time frame: 10 years
LC-FAOD MCEs: Time to First MCE in all Newborn Patients (<=1 Year)
Time frame: 10 years
Disease Management as Assessed by Physical Activity
Time frame: 10 years
Patient Reported Outcomes: Infant and Toddler Quality of Life Questionnaire (ITQOL) Short Form
Time frame: 10 years
Patient Reported Outcomes: Short-Form 10 (SF-10) Health Survey for Children
Time frame: 10 years
Patient Reported Outcomes: Medical Outcomes Study 12-Item Short Form Version 2 (SF-12v2) for Adults
Time frame: 10 years
Participant Survey: Patient and Caregiver-Reported Outcomes
Time frame: 10 years
Participant Survey: Disease Symptoms
Time frame: 10 years
Participant Survey: Schooling and Work Status
Time frame: 10 years
Participant Survey: Absenteeism/Presenteeism
Time frame: 10 years
Participant Survey: EuroQol Group 5-dimension 5-level (EQ-5D-5L) Instrument
Time frame: 10 years
Healthcare Resource Utilization: LC-FAOD-related Medical Resource Use Over Time
Time frame: 10 years
Results and safety
The study was stopped early (reason given: Sponsor decision not related to safety concerns). Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 18 Nov 2022.
- Ultragenyx Patient Advocacy/LC-FAOD Disease InformationLink provided by the sponsor.
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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
1 site in 1 country: 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 1 site in United States.
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 5 inclusion and 0 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: stopped early, as of the sponsor's last update on 18 Nov 2022. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. 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?
The study was stopped early (reason given: Sponsor decision not related to safety concerns). Results are not available in the source record.
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?
LC-FAOD Management: Nutrition and Dosing Utilized to Control LC-FAOD (time frame: 10 years). The study lists 15 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 18 Nov 2022.