Clinical trial NCT04812106: Long-Chain Fatty Acid Oxidation Disorders Online Disease Monitoring Program
Official title: Long Chain Fatty Acid Oxidation Disorders (LC-FAOD) Online Disease Monitoring Program (DMP)
Study type: OBSERVATIONAL
Overall status: TERMINATED
Conditions: Long-chain Fatty Acid Oxidation Disorders (LC-FAOD)
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
Lead sponsor: Ultragenyx Pharmaceutical Inc
Sponsor class: INDUSTRY
First posted: 2021-03-23
Enrollment: 8
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
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.

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.

Eligibility criteria: 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.

Primary outcomes:
measure: LC-FAOD Management: Nutrition and Dosing Utilized to Control LC-FAOD
timeFrame: 10 years
measure: LC-FAOD At-home Interventions: Types of Interventions Used
timeFrame: 10 years
measure: LC-FAOD MCEs: Annualized Event Rate of all MCEs
timeFrame: 10 years
measure: LC-FAOD MCEs: Annualized Event Days in the Emergency Department (ED)/Hospital for all MCEs
timeFrame: 10 years
measure: LC-FAOD MCEs: Time to First MCE in all Newborn Patients (<=1 Year)
timeFrame: 10 years
measure: Disease Management as Assessed by Physical Activity
timeFrame: 10 years
measure: Patient Reported Outcomes: Infant and Toddler Quality of Life Questionnaire (ITQOL) Short Form
timeFrame: 10 years
measure: Patient Reported Outcomes: Short-Form 10 (SF-10) Health Survey for Children
timeFrame: 10 years
measure: Patient Reported Outcomes: Medical Outcomes Study 12-Item Short Form Version 2 (SF-12v2) for Adults
timeFrame: 10 years
measure: Participant Survey: Patient and Caregiver-Reported Outcomes
timeFrame: 10 years
measure: Participant Survey: Disease Symptoms
timeFrame: 10 years
measure: Participant Survey: Schooling and Work Status
timeFrame: 10 years
measure: Participant Survey: Absenteeism/Presenteeism
timeFrame: 10 years
measure: Participant Survey: EuroQol Group 5-dimension 5-level (EQ-5D-5L) Instrument
timeFrame: 10 years
measure: Healthcare Resource Utilization: LC-FAOD-related Medical Resource Use Over Time
timeFrame: 10 years
Secondary outcomes:
Other outcomes:
Locations:
city: Pittsburgh
country: United States
facility: Children's Hospital of Pittsburgh of UPMC
state: Pennsylvania
Study officials:
affiliation: Ultragenyx Pharmaceutical Inc
name: Medical Director
role: STUDY_DIRECTOR
References: