Long-Chain Fatty Acid Oxidation Disorders Online Disease Monitoring Program

NCT04812106 | Terminated

• 1 other identifier: UX007-CL402
• Study Type: observational
• Target: 8
• Locations: 1 country
• Sites: 1

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.

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

Outcome Measures

Primary Outcomes (15)

• 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

Study Arms (1)

Participants with LC-FAOD

Other: No Intervention

Interventions

No Intervention OTHER

No Intervention

Participants with LC-FAOD

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• 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.

Sponsors & Collaborators

• Ultragenyx Pharmaceutical Inc: lead

Study Sites (1)

Children's Hospital of Pittsburgh of UPMC

Pittsburgh, Pennsylvania, 15224, United States

Location

Related Links

• Ultragenyx Patient Advocacy/LC-FAOD Disease Information

MeSH Terms

Conditions

Carnitine-Acylcarnitine Translocase Deficiency; Trifunctional Protein Deficiency With Myopathy And Neuropathy; VLCAD deficiency

Study Officials

• Medical Director

  Ultragenyx Pharmaceutical Inc

  STUDY DIRECTOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 19, 2021
• First Posted: March 23, 2021
• Study Start: July 25, 2022
• Primary Completion: October 27, 2022
• Study Completion: October 27, 2022
• Last Updated: November 18, 2022

Record last verified: 2022-11

Locations

US (1)