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| ID | Type | Description | Link |
|---|---|---|---|
| UX007-IST237 | Other Grant/Funding Number | Ultragenyx Pharmaceutical Inc. |
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| Name | Class |
|---|---|
| Ultragenyx Pharmaceutical Inc | INDUSTRY |
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This is a medical research study to test a medication in adult patients with a disease called medium-chain acyl-CoA dehydrogenase deficiency (MCADD). The medication is triheptanoin, which is currently FDA approved for the treatment of Long-Chain Fatty Acid Oxidation Disorders. Previous research suggests that triheptanoin may also be effective in the treatment MCADD. This study will investigate the safety and efficacy (how well it works) of triheptanoin in patients with MCADD.
Participation in the study will require three overnight admissions at the Clinical and Translational Research Center at the UPMC Children's Hospital of Pittsburgh (also called the PCTRC). The total length of the study is 10 weeks.
Subjects will have blood work and an intravenous access line (IV) placed for several blood draws during the visit. Subjects will begin fasting during the admission, which means they may consume only non-caloric fluids (water, unsweetened black coffee or tea, or sugar-free beverages). Bloodwork will be collected during the fast. Following the completion of the fast, the subject will eat a meal and will receive the study drug, triheptanoin. The total time of fasting will be up to 24 hours.
Dosing for this study will begin at 0.2 gm/kg/day up to a dose of 1.0 gm/kg/day. The dose will be increased gradually to avoid gastric upset. The dose should be divided into 3 or 4 daily doses and given with food or liquid. The dose can be decreased if a subject experiences any gastric upset that indicates that they cannot tolerate the higher dose.
Subjects will return two more times (at Weeks 5 and 9) to undergo the overnight admission and 24-hour fasting procedures outlined above. After the Week 9 admission they will no longer take the triheptanoin. Study staff will contact them by phone one week later (Week 10) to make sure they are not experiencing any adverse effects.
All study procedures will be done at no cost to the subjects.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Triheptanoin | Experimental | Open label study |
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| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Triheptanoin | Drug | Open-label design with doses of triheptanoin up to 1.0 gm/kg triheptanoin |
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| Measure | Description | Time Frame |
|---|---|---|
| Number of participants with treatment related adverse events as assessed by CTCAE v5.0 | 10 weeks |
| Measure | Description | Time Frame |
|---|---|---|
| Normalization of biochemical markers of disease (plasma acylcarnitine) | Change in C2 levels, comparing results from the fast before and after triheptanoin is initiated - this will be measured by the number of participants who experience any change; measured in nmol/mL | 10 weeks |
| Normalization of biochemical markers of disease (plasma acylcarnitine) |
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Inclusion Criteria:
Exclusion Criteria:
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| Name | Affiliation | Role |
|---|---|---|
| Gerard Vockley, MD, PhD | UPMC Children's Hospital of Pittsburgh | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| UPMC Children's Hospital of Pittsburgh | Pittsburgh | Pennsylvania | 15224 | United States |
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| ID | Term |
|---|---|
| C536038 | Medium chain acyl CoA dehydrogenase deficiency |
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| ID | Term |
|---|---|
| C531010 | triheptanoin |
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Change in C3 levels, comparing results from the fast before and after triheptanoin is initiated - this will be measured by the number of participants who experience any change; measured in nmol/mL |
| 10 weeks |
| Normalization of biochemical markers of disease (plasma acylcarnitine) | Change in C6 levels, comparing results from the fast before and after triheptanoin is initiated - this will be measured by the number of participants who experience any change; measured in nmol/mL | 10 weeks |
| Normalization of biochemical markers of disease (plasma acylcarnitine) | Change in C8 levels, comparing results from the fast before and after triheptanoin is initiated - this will be measured by the number of participants who experience any change; measured in nmol/mL | 10 weeks |
| Normalization of biochemical markers of disease (plasma acylcarnitine) | Change in C10 levels, comparing results from the fast before and after triheptanoin is initiated - this will be measured by the number of participants who experience any change; measured in nmol/mL | 10 weeks |
| Normalization of biochemical markers of disease (plasma acylcarnitine) | Change in C10:1 ratio levels, comparing results from the fast before and after triheptanoin is initiated - this will be measured by the number of participants who experience any change; measured in nmol/mL | 10 weeks |
| Normalization of biochemical markers of disease (plasma acylcarnitine) | Change in C16 levels, comparing results from the fast before and after triheptanoin is initiated - this will be measured by the number of participants who experience any change; measured in nmol/mL | 10 weeks |
| Normalization of biochemical markers of disease (urine acylglycine) | Change in urine n-propionylglycine levels, comparing results from the fast before and after triheptanoin is initiated - this will be measured by the number of participants who experience any change; measured in mg/g creatinine | 10 weeks |
| Normalization of biochemical markers of disease (urine acylglycine) | Change in urine suberylglycine levels, comparing results from the fast before and after triheptanoin is initiated - this will be measured by the number of participants who experience any change; measured in mg/g creatinine | 10 weeks |
| Normalization of biochemical markers of disease (urine acylglycine) | Change in urine n-octanoylglycine levels, comparing results from the fast before and after triheptanoin is initiated - this will be measured by the number of participants who experience any change; measured in mg/g creatinine | 10 weeks |
| Normalization of biochemical markers of disease (urine acylglycine) | Change in urine n-hexanoylglycine levels, comparing results from the fast before and after triheptanoin is initiated - this will be measured by the number of participants who experience any change; measured in mg/g creatinine | 10 weeks |
| Normalization of biochemical markers of disease (plasma acylcarnitine) | Change in C2 levels, comparing results from the fast before and after triheptanoin is initiated - this will be measured by the actual change from baseline to Week 10 for each participant; measured in nmol/mL | 10 weeks |
| Normalization of biochemical markers of disease (plasma acylcarnitine) | Change in C3 levels, comparing results from the fast before and after triheptanoin is initiated - this will be measured by the actual change from baseline to Week 10 for each participant; measured in nmol/mL | 10 weeks |
| Normalization of biochemical markers of disease (plasma acylcarnitine) | Change in C6 levels, comparing results from the fast before and after triheptanoin is initiated - this will be measured by the actual change from baseline to Week 10 for each participant; measured in nmol/mL | 10 weeks |
| Normalization of biochemical markers of disease (plasma acylcarnitine) | Change in C8 levels, comparing results from the fast before and after triheptanoin is initiated - this will be measured by the actual change from baseline to Week 10 for each participant; measured in nmol/mL | 10 weeks |
| Normalization of biochemical markers of disease (plasma acylcarnitine) | Change in C10 levels, comparing results from the fast before and after triheptanoin is initiated - this will be measured by the actual change from baseline to Week 10 for each participant; measured in nmol/mL | 10 weeks |
| Normalization of biochemical markers of disease (plasma acylcarnitine) | Change in C10:1 ratio levels, comparing results from the fast before and after triheptanoin is initiated - this will be measured by the actual change from baseline to Week 10 for each participant; measured in nmol/mL | 10 weeks |
| Normalization of biochemical markers of disease (plasma acylcarnitine) | Change in C16 levels, comparing results from the fast before and after triheptanoin is initiated - this will be measured by the actual change from baseline to Week 10 for each participant; measured in nmol/mL | 10 weeks |
| Normalization of biochemical markers of disease (urine acylglycine) | Change in urine n-propionylglycine levels, comparing results from the fast before and after triheptanoin is initiated - this will be measured by the actual change from baseline to Week 10 for each participant; measured in mg/g creatinine | 10 weeks |
| Normalization of biochemical markers of disease (urine acylglycine) | Change in urine suberylglycine levels, comparing results from the fast before and after triheptanoin is initiated - this will be measured by the actual change from baseline to Week 10 for each participant; measured in mg/g creatinine | 10 weeks |
| Normalization of biochemical markers of disease (urine acylglycine) | Change in urine n-octanoylglycine levels, comparing results from the fast before and after triheptanoin is initiated - this will be measured by the actual change from baseline to Week 10 for each participant; measured in mg/g creatinine | 10 weeks |
| Normalization of biochemical markers of disease (urine acylglycine) | Change in urine n-hexanoylglycine levels, comparing results from the fast before and after triheptanoin is initiated - this will be measured by the actual change from baseline to Week 10 for each participant; measured in mg/g creatinine | 10 weeks |