Long-Chain Fatty Acid Oxidation Disorders In-Clinic Disease Monitoring Program

Study Overview
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Brief Summary
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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
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The LC-FAOD DMP is a global observational long-term prospective outcomes study aiming to collect information for up to 10 years from adult and pediatric patients with LC-FAOD, regardless of disease management, including treatment with triheptanoin, and those who have previously participated in triheptanoin clinical trials or 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 only have access to triheptanoin through authorized commercial use (if approved in their country) or available EAP but not from the LC-FAOD DMP itself.

Official Title
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Long-Chain Fatty Acid Oxidation Disorders In-Clinic Disease Monitoring Program (LC-FAOD DMP)

Conditions
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Long-chain Fatty Acid Oxidation Disorders (LC-FAOD)

Intervention / Treatment
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* Other: No Intervention


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Confirmed diagnosis of any LC-FAOD sub-type. 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. Female of child-bearing 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. Pregnant females not affected by LC-FAOD carrying a fetus affected by LC-FAOD with confirmed pre-natal diagnosis of LC-FAOD. Exclusion Criteria: 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.
Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Previously Treated with Triheptanoin<br>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). | Other: No Intervention<br>* No Intervention<br>|
| Currently Treated with Triheptanoin<br>New patients enrolling into the DMP currently being treated with triheptanoin (excluding those in the previously treated with triheptanoin cohort). | Other: No Intervention<br>* No Intervention<br>|
| Triheptanoin Naïve<br>New patients enrolling into the DMP with no exposure to triheptanoin. | Other: No Intervention<br>* No Intervention<br>|
| Triheptanoin Naïve Transitioned to Triheptanoin<br>Patients already enrolled into the triheptanoin naïve cohort but transition to triheptanoin during the DMP after enrollment. | Other: No Intervention<br>* No Intervention<br>|
| Pregnant unaffected LC-FAOD carrier females<br>Pregnant, unaffected (women who do not have the mutations causing LC-FAOD) LC-FAOD carrier females, carrying a fetus with a diagnosis of LC-FAOD confirmed via prenatal testing. | Other: No Intervention<br>* No Intervention<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Long-Term Safety of Patients with LC-FAOD as Assessed by Incidence of Serious Adverse Events (SAEs) and Adverse Events (AEs) During Pregnancy for all Patients with LC-FAOD |  | 10 years | 
| Long-Term Safety of Patients with LC-FAOD as Assessed by Neonate and Infant Outcomes from Pregnancy Throughout the First Year of Life |  | 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, SAE's and AEs Reported for all Patients with LC-FAOD |  | 10 years | 
| Long-Term Safety of Patients with LC-FAOD as Assessed by Incidence of all SAEs and AEs in Nursing Mothers and Their Breast-Milk-Fed Infants |  | 10 years | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Long-term Effectiveness of Triheptanoin in Patients with LC-FAOD as Assessed by Major Clinical Events (MCEs) | Number and duration of MCEs, including rhabdomyolysis, cardiomyopathy, liver damage, and hypoglycemia | 10 years | 
| Long-term Effectiveness of Triheptanoin in Patients with LC-FAOD as Assessed by Hospitalizations |  | 10 years | 
| 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 12-Minute Walk Test (12MWT) |  | 10 years | 
| Long-term Effectiveness of Triheptanoin in Patients with LC-FAOD as Assessed by Time to First MCE in Newborns and Pediatrics |  | 10 Years | 
| Long-term Effectiveness of Triheptanoin in Patients with LC-FAOD as Assessed by Height/Recumbent Length |  | 10 years | 
| 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 Head Circumference |  | 10 years | 
| Natural History, Progression, and Burden of LC-FAOD from the Patient/Caregiver's Perspective as Assessed by the Infant and Toddler Quality of Life (ITQOL) |  | 10 years | 
| Natural History, Progression, and Burden of LC-FAOD from the Patient/Caregiver's Perspective as Assessed by the Medical Outcomes Study 10-Item Short Form (SF-10) |  | 10 years | 
| Natural History, Progression, and Burden of LC-FAOD from the Patient/Caregiver's Perspective as Assessed by the Medical Outcomes Study 12-Item Short Form (SF-12 v2) assessments |  | 10 years | 
| Natural History, Progression, and Burden of LC-FAOD from the Patient/Caregiver's Perspective as Assessed by the Clinical Global Impression of Severity (CGI-S) assessment |  | 10 years | 
| Natural History, Progression, and Burden of LC-FAOD from the Patient/Caregiver's Perspective as Assessed by Nutrition Management and Dosing |  | 10 years | 
| Natural History, Progression, and Burden of LC-FAOD from the Patient/Caregiver's Perspective as Assessed by Medical Resource Utilization |  | 10 years | 
| Natural History, Progression, and Burden of LC-FAOD from the Patient/Caregiver's Perspective as Assessed by LC-FAOD Symptoms and Impact |  | 10 years | 
| Natural History, Progression, and Burden of LC-FAOD from the Patient/Caregiver's Perspective as Assessed by the Work Productivity Questionnaire |  | 10 years | 
| Natural History, Progression, and Burden of LC-FAOD from the Patient/Caregiver's Perspective as Assessed by the School Impact Questionnaire |  | 10 years | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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CACT Deficiency, Carnitine Acylcarnitine Translocase Deficiency, CPT1, CPT2, Carnitine Palmitoyltransferase Deficiencies, VLCAD, Very Long Chain Acyl Coa Dehydrogenase Deficiency, LCHAD Deficiency, Long-chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency, TFP Deficiency, Trifunctional Protein Deficiency