Medium-chain Acyl-CoA Dehydrogenase Deficiency Clinical Trial
Official title:
A Phase II, Escalating Dose, Open Label Study to Evaluate the Safety of Triheptanoin for the Prevention of Hypoglycemia in Patients With Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD)
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.
Status | Recruiting |
Enrollment | 8 |
Est. completion date | April 2025 |
Est. primary completion date | January 2025 |
Accepts healthy volunteers | No |
Gender | All |
Age group | 16 Years and older |
Eligibility | Inclusion Criteria: - A diagnosis of MCAD deficiency with molecular confirmation. - Age criteria age = 16 years - Able to perform and comply with study activities including overnight admission to the research unit at UPMC Children's Hospital Pittsburgh, placement of an IV catheter, and all blood draws. - Negative pregnancy test for all female subjects of child bearing age. Females of childbearning potential must agree to use a highly effective method of contraception, and males must agree not to father a child or donate sperm. True abstinence for the duration of the study will also be accepted. - Signed informed consent for subjects = 18 years, or assent by subjects age 16-17 years with parental consent for underaged subjects. Exclusion Criteria: - Use of any investigational drug within 30 days of screening. - Active infection (viral or bacterial) or any other intercurrent condition as reported by the subject or noted on physical exam at screening. - Evidence of liver disease as defined by elevations of AST or ALT> 1.5x ULN at screening - Any clinical or laboratory abnormality or medical condition that, at the discretion of the investigator, may put the subject at increased risk by participating in this study. - Pregnant, planning to become pregnant, breastfeeding or lactating females. - Diagnosis of pancreatic insufficiency or concomitant use of a pancreatic lipase inhibitor (e.g. Orlistat) which can interfere with absorption of triheptanoin - Subjects with type 1 or type 2 diabetes, or who take medications as part of their routine care that can cause hypoglycemia |
Country | Name | City | State |
---|---|---|---|
United States | UPMC Children's Hospital of Pittsburgh | Pittsburgh | Pennsylvania |
Lead Sponsor | Collaborator |
---|---|
Jerry Vockley, MD, PhD | Ultragenyx Pharmaceutical Inc |
United States,
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Primary | Number of participants with treatment related adverse events as assessed by CTCAE v5.0 | 10 weeks | ||
Secondary | 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 | |
Secondary | 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 number of participants who experience any change; measured in nmol/mL | 10 weeks | |
Secondary | 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 | |
Secondary | 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 | |
Secondary | 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 | |
Secondary | 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 | |
Secondary | 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 | |
Secondary | 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 | |
Secondary | 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 | |
Secondary | 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 | |
Secondary | 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 | |
Secondary | 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 | |
Secondary | 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 | |
Secondary | 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 | |
Secondary | 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 | |
Secondary | 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 | |
Secondary | 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 | |
Secondary | 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 | |
Secondary | 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 | |
Secondary | 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 | |
Secondary | 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 | |
Secondary | 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 |
Status | Clinical Trial | Phase | |
---|---|---|---|
Recruiting |
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