Medium-chain Acyl-CoA Dehydrogenase DeficiencyPhase 2NCT06067802
Study of Triheptanoin for the Prevention of Hypoglycemia in Patients With Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD)
A Phase 2 study testing Triheptanoin in people with Medium-chain Acyl-CoA Dehydrogenase Deficiency, run by Jerry Vockley, MD, PhD at 1 site in United States.
Trial summary
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. Read more about this study
- Who is it for?
- Ages 16 years and older
- Conditions the study is for
- Medium-chain Acyl-CoA Dehydrogenase Deficiency
- What is being tested?
- Triheptanoin
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 0 participants
- Where
- 1 siteUnited States
- Study dates
- Aug 2026to Mar 2029
- Phase
- Phase 2
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 16 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- 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.
Who cannot join
- 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
Trial locations and contacts
1 site in 1 country.
United States1 site
UPMC Children's Hospital of Pittsburgh
Pittsburgh, Pennsylvania, 15224
About this study
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.
Read the detailed description
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.
- Being tested
- Triheptanoin
- Keywords
- Medium-chain Acyl-CoA Dehydrogenase Deficiency
- Medical subject headings
- Medium chain acyl CoA dehydrogenase deficiency
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
TriheptanoinDrug
Also called Dojolvi
Open-label design with doses of triheptanoin up to 1.0 gm/kg triheptanoin
| Study group | Role | What they receive |
|---|---|---|
| Triheptanoin | Experimental | Open label study Receives: Drug: Triheptanoin |
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of participants with treatment related adverse events as assessed by CTCAE v5.0
Measured: 10 weeks
Secondary outcomes (22)
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
Measured: 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 number of participants who experience any change; measured in nmol/mL
Measured: 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
Measured: 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
Measured: 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
Measured: 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
Measured: 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
Measured: 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
Measured: 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
Measured: 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
Measured: 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
Measured: 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
Measured: 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
Measured: 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
Measured: 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
Measured: 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
Measured: 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
Measured: 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
Measured: 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
Measured: 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
Measured: 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
Measured: 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
Measured: 10 weeks
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted5 Oct 2023
- Study startAug 2026 (estimated)
- Primary completionAug 2028 (estimated)
- Study completionMar 2029 (estimated)
Why it stopped: Funding was pulled
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Medium-chain Acyl-CoA Dehydrogenase DeficiencyStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase 2
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 0 participants (actual)
Sponsor and investigators
- Lead sponsor
- Jerry Vockley, MD, PhD
- Sponsor type
- University, hospital or other
- Collaborators
- Ultragenyx Pharmaceutical Inc
- Responsible party
- Sponsor-investigator, Jerry Vockley, MD, PhD, University of Pittsburgh
- Investigators
- Gerard Vockley, MD, PhD, Principal investigator, UPMC Children's Hospital of Pittsburgh
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06067802
- Sponsor's protocol ID
- STUDY23040121
- Other IDs
- UX007-IST237
- Status last verified
- Jun 2026
- First submitted
- 10 Aug 2023
- Last updated
- 2 Jul 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 2 Jul 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- 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)
- ClinicalTrials.gov ID
- NCT06067802
- Acronym / sponsor ID
- STUDY23040121
- Keywords
- Medium-chain Acyl-CoA Dehydrogenase Deficiency
- Phase
- Phase 2
- Study type
- Interventional
- Recruitment status
- WithdrawnReason stopped: Funding was pulled
- Enrolment
- 0 participants (actual)
- Lead sponsor
- Jerry Vockley, MD, PhDUniversity, hospital or other
- Collaborators
- Ultragenyx Pharmaceutical Inc
- Study start
- Aug 2026 (estimated)
- Primary completion
- Aug 2028 (estimated)
- Study completion
- Mar 2029 (estimated)
- First posted
- 5 Oct 2023 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
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.
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Triheptanoin | Experimental | Drug: TriheptanoinOpen label study |
Who may qualify
- Ages
- 16 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (5 listed)
- 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.
Key exclusion criteria (7 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| TriheptanoinAlso: DojolviOpen-label design with doses of triheptanoin up to 1.0 gm/kg triheptanoin | Drug | Triheptanoin |
Primary outcome
Number of participants with treatment related adverse events as assessed by CTCAE v5.0
Time frame: 10 weeks
22 secondary outcomes
Normalization of biochemical markers of disease (plasma acylcarnitine)
Time frame: 10 weeks
Normalization of biochemical markers of disease (plasma acylcarnitine)
Time frame: 10 weeks
Normalization of biochemical markers of disease (plasma acylcarnitine)
Time frame: 10 weeks
Normalization of biochemical markers of disease (plasma acylcarnitine)
Time frame: 10 weeks
Normalization of biochemical markers of disease (plasma acylcarnitine)
Time frame: 10 weeks
Normalization of biochemical markers of disease (plasma acylcarnitine)
Time frame: 10 weeks
Normalization of biochemical markers of disease (plasma acylcarnitine)
Time frame: 10 weeks
Normalization of biochemical markers of disease (urine acylglycine)
Time frame: 10 weeks
Normalization of biochemical markers of disease (urine acylglycine)
Time frame: 10 weeks
Normalization of biochemical markers of disease (urine acylglycine)
Time frame: 10 weeks
Normalization of biochemical markers of disease (urine acylglycine)
Time frame: 10 weeks
Normalization of biochemical markers of disease (plasma acylcarnitine)
Time frame: 10 weeks
Normalization of biochemical markers of disease (plasma acylcarnitine)
Time frame: 10 weeks
Normalization of biochemical markers of disease (plasma acylcarnitine)
Time frame: 10 weeks
Normalization of biochemical markers of disease (plasma acylcarnitine)
Time frame: 10 weeks
Normalization of biochemical markers of disease (plasma acylcarnitine)
Time frame: 10 weeks
Normalization of biochemical markers of disease (plasma acylcarnitine)
Time frame: 10 weeks
Normalization of biochemical markers of disease (plasma acylcarnitine)
Time frame: 10 weeks
Normalization of biochemical markers of disease (urine acylglycine)
Time frame: 10 weeks
Normalization of biochemical markers of disease (urine acylglycine)
Time frame: 10 weeks
Normalization of biochemical markers of disease (urine acylglycine)
Time frame: 10 weeks
Normalization of biochemical markers of disease (urine acylglycine)
Time frame: 10 weeks
Results and safety
The study was withdrawn before enrolling participants, so there are no results.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 2 Jul 2026.
- Individual participant dataSharing planned: No
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Medium-chain Acyl-CoA Dehydrogenase Deficiency
Active, not recruitingPhase 3
A Study to Determine the Effect of Triheptanoin Compared With Even-Chain MCT on MCEs in Pediatric Patients With LC-FAOD
Long-chain Fatty Acid Oxidation Disorders (LC-FAOD)
RecruitingObservational study
Natural History of MADD
Multiple Acyl-CoA Dehydrogenase Deficiency
Recruiting
Metabolic Effects of Medium-Chain Fatty Acids in Patients With Medium-Chain Acyl-CoA Dehydrogenase Deficiency and Healthy Individuals
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Gerard Vockley, MD, PhD principal investigator
UPMC Children's Hospital of Pittsburgh
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 2 study testing Triheptanoin in people with Medium-chain Acyl-CoA Dehydrogenase Deficiency, run by Jerry Vockley, MD, PhD at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 7 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: withdrawn, as of the sponsor's last update on 2 Jul 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
What does this phase mean?
Phase 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
The study was withdrawn before enrolling participants, so there are no results.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Number of participants with treatment related adverse events as assessed by CTCAE v5.0 (time frame: 10 weeks). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 2 Jul 2026.