Long-Chain Fatty Acid Oxidation Disorders Online Disease Monitoring Program

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.

Study Overview

• Status: Terminated
• Conditions: Long-chain Fatty Acid Oxidation Disorders (LC-FAOD)
• Intervention / Treatment: Other: No Intervention

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 Type: Observational
• Enrollment (Actual): 8

Contacts and Locations

Study Locations

• United States
  • Pennsylvania
    • Pittsburgh, Pennsylvania, United States, 15224
      • Children's Hospital of Pittsburgh of UPMC

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

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.

Description

Inclusion Criteria:

• 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.

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Prospective

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Participants with LC-FAOD	Other: No Intervention; No Intervention

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
LC-FAOD Management: Nutrition and Dosing Utilized to Control LC-FAOD		10 years
LC-FAOD At-home Interventions: Types of Interventions Used	Interventions used to prevent or mitigate Major Clinical Events (MCEs)	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	10 years
LC-FAOD MCEs: Annualized Event Days in the Emergency Department (ED)/Hospital for all MCEs		10 years
LC-FAOD MCEs: Time to First MCE in all Newborn Patients (<=1 Year)		10 years
Disease Management as Assessed by Physical Activity		10 years
Patient Reported Outcomes: Infant and Toddler Quality of Life Questionnaire (ITQOL) Short Form		10 years
Patient Reported Outcomes: Short-Form 10 (SF-10) Health Survey for Children		10 years
Patient Reported Outcomes: Medical Outcomes Study 12-Item Short Form Version 2 (SF-12v2) for Adults		10 years
Participant Survey: Patient and Caregiver-Reported Outcomes		10 years
Participant Survey: Disease Symptoms		10 years
Participant Survey: Schooling and Work Status		10 years
Participant Survey: Absenteeism/Presenteeism		10 years
Participant Survey: EuroQol Group 5-dimension 5-level (EQ-5D-5L) Instrument		10 years
Healthcare Resource Utilization: LC-FAOD-related Medical Resource Use Over Time		10 years

Collaborators and Investigators

• Sponsor: Ultragenyx Pharmaceutical Inc

Publications and helpful links

Helpful Links

• Ultragenyx Patient Advocacy/LC-FAOD Disease Information

Study record dates

Study Major Dates

• Study Start (Actual): July 25, 2022
• Primary Completion (Actual): October 27, 2022
• Study Completion (Actual): October 27, 2022

Study Registration Dates

• First Submitted: March 19, 2021
• First Submitted That Met QC Criteria: March 19, 2021
• First Posted (Actual): March 23, 2021

Study Record Updates

• Last Update Posted (Actual): November 18, 2022
• Last Update Submitted That Met QC Criteria: November 14, 2022
• Last Verified: November 1, 2022

More Information

Terms related to this study

• 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
• Additional Relevant MeSH Terms: Pathologic Processes; Disease
• Other Study ID Numbers: UX007-CL402

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No