Long-chain Fatty Acid Oxidation Disorders (LC-FAOD)
Conditions
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
Brief 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.
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.
Interventions
OTHERNo Intervention
No Intervention
Sponsors
Ultragenyx Pharmaceutical Inc
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Participant Survey: Schooling and Work Status | 10 years | — |
| LC-FAOD Management: Nutrition and Dosing Utilized to Control LC-FAOD | 10 years | — |
| LC-FAOD At-home Interventions: Types of Interventions Used | 10 years | Interventions used to prevent or mitigate Major Clinical Events (MCEs) |
| LC-FAOD MCEs: Annualized Event Rate of all MCEs | 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 | 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: 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 | — |
Countries
United States
Outcome results
None listed