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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.
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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Cohort 1: Previously Treated with Triheptanoin | 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). |
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| Cohort 2: Currently or Previously Treated with Triheptanoin | New patients enrolling into the DMP currently or previously treated with triheptanoin (excluding those in Cohort 1). |
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| Cohort 3: Triheptanoin Naïve | New patients enrolling into the DMP with no exposure to triheptanoin (naïve). |
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| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| No Intervention | Other | No Intervention |
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| Measure | Description | Time Frame |
|---|---|---|
| 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 Outcomes of Pregnancy in 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 |
| Measure | Description | Time Frame |
|---|---|---|
| Long-Term Effectiveness of Triheptanoin in Patients With LC-FAOD as Assessed by Major Clinical Events (MCEs) | Frequency and duration of MCEs including events of rhabdomyolysis, cardiomyopathy, hypoglycemia, and other disease complications | 10 Years |
| Long-Term Effectiveness of Triheptanoin in Patients With LC-FAOD as Assessed by At-Home Clinical Events (HCEs) |
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Inclusion Criteria:
Exclusion Criteria:
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Approximately 150 patients, either treated or untreated with triheptanoin, will be enrolled for this study.
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| Name | Affiliation | Role |
|---|---|---|
| Medical Director | Ultragenyx Pharmaceutical Inc | Study Director |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Phoenix Children's Hospital | Phoenix | Arizona | 85016 | United States | ||
| University of California San Francisco |
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| Label | URL |
|---|---|
| Ultragenyx Patient Advocacy/LC-FAOD Disease Information | View source |
| Ultragenyx Transparency Commitment | View source |
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Frequency and duration of HCEs including events of hypoglycemia, rhabdomyolysis, cardiomyopathy, and other disease complications |
| 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 Height | 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 |
| 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 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 |
| 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 |
| 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 Alanine Aminotransferase (ALT) | 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 |
| 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 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 the Medical Outcomes Study 12-Item Short Form (SF-12 v2) | 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 |
| Impact of Triheptanoin on Patient- and Clinician-Reported Measures of Disease Severity and Burden as Assessed by the Work Productivity Questionnaire | 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 |
| Impact of Triheptanoin on Patient- and Clinician-Reported Measures of Disease Severity and Burden as Assessed by Long-Term Complications of LC-FAOD | May include retinopathy and peripheral neuropathy or other sensory and motor complications | 10 Years |
| San Francisco |
| California |
| 94158 |
| United States |
| Children's Hospital of Colorado | Aurora | Colorado | 80045 | United States |
| University of South Florida | Tampa | Florida | 33606 | United States |
| The Emory Clinic | Atlanta | Georgia | 30322 | United States |
| Ann & Robert H. Lurie Children's Hospital | Chicago | Illinois | 60611 | United States |
| Boston Children's Hospital | Boston | Massachusetts | 02215 | United States |
| University of Minnesota | Minneapolis | Minnesota | 55454 | United States |
| Columbia University | New York | New York | 10032 | United States |
| Nationwide Children's Hospital | Columbus | Ohio | 43205 | United States |
| Children's Hospital of Pittsburgh of UPMC | Pittsburgh | Pennsylvania | 15224 | United States |
| University of Utah | Salt Lake City | Utah | 84108 | United States |
| Seattle Children's Hospital | Seattle | Washington | 98020 | United States |
| University of Alberta | Edmonton | Alberta | T6G 1C9 | Canada |
| CHEO (Children's Hospital Eastern Ontario) | Ottawa | Ontario | K1H 8L1 | Canada |
| SickKids (The Hospital for Sick Children) | Toronto | Ontario | M5G 1X8 | Canada |
| ID | Term |
|---|---|
| C562812 | Carnitine-Acylcarnitine Translocase Deficiency |
| C536353 | VLCAD deficiency |
| C566945 | Trifunctional Protein Deficiency With Myopathy And Neuropathy |
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