Long-Chain Fatty Acid Oxidation Disorders In-Clinic Disease Monitoring Program
- Conditions
- Long-chain Fatty Acid Oxidation Disorders (LC-FAOD)
- Interventions
- Other: No Intervention
- Registration Number
- NCT04632953
- Lead Sponsor
- Ultragenyx Pharmaceutical Inc
- Brief Summary
The primary objective of this study is to assess the long-term safety, including pregnancy, infant, and lactation outcomes, of patients with LC-FAOD who are enrolled in the DMP.
- Detailed Description
The LC-FAOD Disease Monitoring Program (DMP) is an international, long-term, retrospective and prospective outcomes study aiming to collect safety and effectiveness data for triheptanoin and the natural history of LC-FAOD for a study duration of up to 10 years from adult and pediatric patients with LC-FAOD, with any previous disease management, regardless of prior treatment with triheptanoin, those who have previously participated in triheptanoin clinical trials, and those who received triheptanoin through an Expanded Access Program (EAP).
Patients enrolling in the LC-FAOD DMP will be managed at the discretion of their physicians and may or may not be treated with triheptanoin during the course of the study. Patients will have access to triheptanoin only through authorized commercial use (if approved in their country) or available EAP but not from the LC-FAOD DMP itself.
Recruitment & Eligibility
- Status
- RECRUITING
- Sex
- All
- Target Recruitment
- 150
- Confirmed diagnosis of any LC-FAOD subtype. Diagnosis must be confirmed by results of acylcarnitine profiles and/or genetic testing results obtained from medical records or equivalent documentation.
- Willing and able to comply with all study procedures.
- Willing and able to provide consent or, if a minor, provide assent and informed consent by their legally authorized representative.
- Females of childbearing potential who become pregnant during the study will be invited to remain in the study. Pregnant females with LC-FAOD will be informed of the study and invited to enroll.
- Presence of a concurrent disease or condition that would interfere with study participation or affect patient's safety in the opinion of the Investigator.
- Presence or history of any condition that, in the view of the Investigator, places the patient at high risk of not completing the study or would affect the interpretation of study results.
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Arm && Interventions
Group Intervention Description Cohort 1: Previously Treated with Triheptanoin No Intervention Patients who have been previously treated with triheptanoin in clinical studies: UX007-CL201 (NCT01886378), UX007-CL202 (NCT02214160), UX007-CL302 (2022-001539-10), Investigator Sponsored Trials (ISTs), or UX007-EAP (NCT03773770). Cohort 2: Currently or Previously Treated with Triheptanoin No Intervention New patients enrolling into the DMP currently or previously treated with triheptanoin (excluding those in Cohort 1). Cohort 3: Triheptanoin Naïve No Intervention New patients enrolling into the DMP with no exposure to triheptanoin (naïve).
- Primary Outcome Measures
Name Time Method Long-Term Safety of Patients With LC-FAOD as Assessed by Outcomes of Pregnancy in Patients with LC-FAOD 10 Years Long-Term Safety of Patients With LC-FAOD as Assessed by Incidence, Severity, and Frequency of Serious Adverse Events (SAEs) and Adverse Events (AEs) in Pregnant and Lactating Patients with LC-FAOD 10 Years Long-Term Safety of Patients With LC-FAOD as Assessed by Incidence, Frequency, and Severity of SAEs and AEs During the First Year of Life in Infants Born to Study Participants 10 Years Long-Term Safety of Patients With LC-FAOD as Assessed by Incidence of SAEs Assessed as Related to Triheptanoin Treatment by Study Investigator 10 Years Long-Term Safety of Patients With LC-FAOD as Assessed by Incidence of All Colon Cancer or Gastrointestinal (GI) Cancer, GI Dysplasia, and GI Neoplasia, SAEs and AEs Reported for All Patients With LC-FAOD 10 Years
- Secondary Outcome Measures
Name Time Method Long-Term Effectiveness of Triheptanoin in Patients With LC-FAOD as Assessed by Mortality 10 Years Long-Term Effectiveness of Triheptanoin in Patients With LC-FAOD as Assessed by Height 10 Years Long-Term Effectiveness of Triheptanoin in Patients With LC-FAOD as Assessed by Distance Travelled in the 12-Minute Walk Test (12MWT) 10 Years Long-Term Effectiveness of Triheptanoin in Patients With LC-FAOD as Assessed by Change from Baseline in Echocardiogram (ECHO) Parameters: Left Ventricular Mass Index 10 Years Dose-Response Relationship of Triheptanoin and Even-Chain MCT as Assessed by Incidence of MCEs and HCEs With Consideration of Diet 10 Years Impact of Triheptanoin on Patient- and Clinician-Reported Measures of Disease Severity and Burden as Assessed by the Medical Outcomes Study 12-Item Short Form (SF-12 v2) 10 Years Long-Term Effectiveness of Triheptanoin in Patients With LC-FAOD as Assessed by At-Home Clinical Events (HCEs) 10 Years Frequency and duration of HCEs including events of hypoglycemia, rhabdomyolysis, cardiomyopathy, and other disease complications
Impact of Triheptanoin on Patient- and Clinician-Reported Measures of Disease Severity and Burden as Assessed by the Work Productivity Questionnaire 10 Years Long-Term Effectiveness of Triheptanoin in Patients With LC-FAOD as Assessed by Major Clinical Events (MCEs) 10 Years Frequency and duration of MCEs including events of rhabdomyolysis, cardiomyopathy, hypoglycemia, and other disease complications
Long-Term Effectiveness of Triheptanoin in Patients With LC-FAOD as Assessed by Weight 10 Years Long-Term Effectiveness of Triheptanoin in Patients With LC-FAOD as Assessed by Incidence and Type of Cardiac Arrhythmia 10 Years Long-Term Effectiveness of Triheptanoin in Patients With LC-FAOD as Assessed by Change from Baseline in Total Creatine Kinase (CK) 10 Years Long-Term Effectiveness of Triheptanoin in Patients With LC-FAOD as Assessed by Change from Baseline in Select Acylcarnitines 10 Years Impact of Triheptanoin on Patient- and Clinician-Reported Measures of Disease Severity and Burden as Assessed by the School Impact Questionnaire 10 Years Long-Term Effectiveness of Triheptanoin in Patients With LC-FAOD as Assessed by Head Circumference 10 Years Long-Term Effectiveness of Triheptanoin in Patients With LC-FAOD as Assessed by Body Mass Index (BMI) 10 Years Long-Term Effectiveness of Triheptanoin in Patients With LC-FAOD as Assessed by Change from Baseline in Alanine Aminotransferase (ALT) 10 Years Impact of Triheptanoin on Patient- and Clinician-Reported Measures of Disease Severity and Burden as Assessed by the Clinical Global Impression of Severity (CGI-S) Assessment 10 Years Impact of Triheptanoin on Patient- and Clinician-Reported Measures of Disease Severity and Burden as Assessed by the Infant and Toddler Quality of Life (ITQOL) 10 Years Impact of Triheptanoin on Patient- and Clinician-Reported Measures of Disease Severity and Burden as Assessed by the Medical Outcomes Study 10-Item Short Form (SF-10) 10 Years Impact of Triheptanoin on Patient- and Clinician-Reported Measures of Disease Severity and Burden as Assessed by Medical Resource Utilization 10 Years Impact of Triheptanoin on Patient- and Clinician-Reported Measures of Disease Severity and Burden as Assessed by Assistive Device Use 10 Years Long-Term Effectiveness of Triheptanoin in Patients With LC-FAOD as Assessed by Change from Baseline in Echocardiogram (ECHO) Parameters: Left Ventricular Ejection Fraction 10 Years Impact of Triheptanoin on Patient- and Clinician-Reported Measures of Disease Severity and Burden as Assessed by Long-Term Complications of LC-FAOD 10 Years May include retinopathy and peripheral neuropathy or other sensory and motor complications
Trial Locations
- Locations (16)
Phoenix Children's Hospital
🇺🇸Phoenix, Arizona, United States
University of California San Francisco
🇺🇸San Francisco, California, United States
Children's Hospital of Colorado
🇺🇸Aurora, Colorado, United States
University of South Florida
🇺🇸Tampa, Florida, United States
The Emory Clinic
🇺🇸Atlanta, Georgia, United States
Ann & Robert H. Lurie Children's Hospital
🇺🇸Chicago, Illinois, United States
Boston Children's Hospital
🇺🇸Boston, Massachusetts, United States
University of Minnesota
🇺🇸Minneapolis, Minnesota, United States
Columbia University
🇺🇸New York, New York, United States
Nationwide Children's Hospital
🇺🇸Columbus, Ohio, United States
Children's Hospital of Pittsburgh of UPMC
🇺🇸Pittsburgh, Pennsylvania, United States
University of Utah
🇺🇸Salt Lake City, Utah, United States
Seattle Children's Hospital
🇺🇸Seattle, Washington, United States
University of Alberta
🇨🇦Edmonton, Alberta, Canada
CHEO (Children's Hospital Eastern Ontario)
🇨🇦Ottawa, Ontario, Canada
SickKids (The Hospital for Sick Children)
🇨🇦Toronto, Ontario, Canada