Study of Triheptanoin for the Prevention of Hypoglycemia in Patients With Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD)

June 30, 2026 updated by: Jerry Vockley, MD, PhD

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.

Study Overview

Status

Status

Indicates the current recruitment status or the expanded access status.
Withdrawn

Conditions

Conditions

The disease, disorder, syndrome, illness, or injury that is being studied. On ClinicalTrials.gov, conditions may also include other health-related issues, such as lifespan, quality of life, and health risks.

Intervention / Treatment

Intervention / Treatment

A process or action that is the focus of a clinical study. Interventions include drugs, medical devices, procedures, vaccines, and other products that are either investigational or already available. Interventions can also include noninvasive approaches, such as education or modifying diet and exercise.

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 Type

Study Type

Describes the nature of a clinical study. Study types include interventional studies (also called clinical trials), observational studies (including patient registries), and expanded access.
Interventional

Phase

Phase

The stage of a clinical trial studying a drug or biological product, based on definitions developed by the U.S. Food and Drug Administration (FDA). The phase is based on the study's objective, the number of participants, and other characteristics. There are five phases: Early Phase 1 (formerly listed as Phase 0), Phase 1, Phase 2, Phase 3, and Phase 4. Not Applicable is used to describe trials without FDA-defined phases, including trials of devices or behavioral interventions.
  • Phase 2

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact

The name and contact information for the person who can answer enrollment questions for a clinical study. Each location where the study is being conducted may also have a specific contact, who may be better able to answer those questions.

Study Locations

  • United States
    • Pennsylvania
      • Pittsburgh, Pennsylvania, United States, 15224
        • UPMC Children's Hospital of Pittsburgh

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Eligibility Criteria

The key requirements that people who want to participate in a clinical study must meet or the characteristics they must have. Eligibility criteria consist of both inclusion criteria (which are required for a person to participate in the study) and exclusion criteria (which prevent a person from participating). Types of eligibility criteria include whether a study accepts healthy volunteers, has age or age group requirements, or is limited by sex.

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Treatment
  • Allocation: N/A
  • Interventional Model: Single Group Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / Arm

Participant Group / Arm

A group or subgroup of participants in a clinical trial that receives a specific intervention/treatment, or no intervention, according to the trial's protocol.
Intervention / Treatment

Intervention / Treatment

A process or action that is the focus of a clinical study. Interventions include drugs, medical devices, procedures, vaccines, and other products that are either investigational or already available. Interventions can also include noninvasive approaches, such as education or modifying diet and exercise.
Experimental: Triheptanoin
Open label study
Drug: Triheptanoin
Open-label design with doses of triheptanoin up to 1.0 gm/kg triheptanoin
Other Names:
  • Dojolvi

What is the study measuring?

Primary Outcome Measures

Primary Outcome Measures

In a clinical study's protocol, the planned outcome measure that is the most important for evaluating the effect of an intervention/treatment. Most clinical studies have one primary outcome measure, but some have more than one.
Outcome Measure
Time Frame
Number of participants with treatment related adverse events as assessed by CTCAE v5.0
Time Frame: 10 weeks
10 weeks

Secondary Outcome Measures

Secondary Outcome Measures

In a clinical study's protocol, a planned outcome measure that is not as important as the primary outcome measure for evaluating the effect of an intervention but is still of interest. Most clinical studies have more than one secondary outcome measure.
Outcome Measure
Measure Description
Time Frame
Normalization of biochemical markers of disease (plasma acylcarnitine)
Time Frame: 10 weeks
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)
Time Frame: 10 weeks
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)
Time Frame: 10 weeks
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)
Time Frame: 10 weeks
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)
Time Frame: 10 weeks
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)
Time Frame: 10 weeks
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)
Time Frame: 10 weeks
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)
Time Frame: 10 weeks
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)
Time Frame: 10 weeks
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)
Time Frame: 10 weeks
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)
Time Frame: 10 weeks
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)
Time Frame: 10 weeks
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)
Time Frame: 10 weeks
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)
Time Frame: 10 weeks
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)
Time Frame: 10 weeks
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)
Time Frame: 10 weeks
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)
Time Frame: 10 weeks
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)
Time Frame: 10 weeks
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)
Time Frame: 10 weeks
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)
Time Frame: 10 weeks
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)
Time Frame: 10 weeks
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)
Time Frame: 10 weeks
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

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Sponsor

The organization or person who initiates the study and who has authority and control over the study.
Jerry Vockley, MD, PhD

Collaborators

Collaborators

An organization other than the sponsor that provides support for a clinical study. This support may include activities related to funding, design, implementation, data analysis, or reporting.
Ultragenyx Pharmaceutical Inc

Investigators

Investigators

A researcher involved in a clinical study. Related terms include site principal investigator, site sub-investigator, study chair, study director, and study principal investigator.
  • Principal Investigator: Gerard Vockley, MD, PhD, UPMC Children's Hospital of Pittsburgh

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Estimated)

Study Start

The actual date on which the first participant was enrolled in a clinical study. The "anticipated" study start date is the date that the researchers think will be the study start date.
August 1, 2026

Primary Completion (Estimated)

Primary Completion

The date on which the last participant in a clinical study was examined or received an intervention to collect final data for the primary outcome measure. Whether the clinical study ended according to the protocol or was terminated does not affect this date. For clinical studies with more than one primary outcome measure with different completion dates, this term refers to the date on which data collection is completed for all the primary outcome measures. The "anticipated" primary completion date is the date that the researchers think will be the primary completion date for the study.
August 1, 2028

Study Completion (Estimated)

Study Completion

The date on which the last participant in a clinical study was examined or received an intervention/treatment to collect final data for the primary outcome measures, secondary outcome measures, and adverse events (that is, the last participant's last visit). The "anticipated" study completion date is the date that the researchers think will be the study completion date.
March 1, 2029

Study Registration Dates

First Submitted

First Submitted

The date on which the study sponsor or investigator first submitted a study record to ClinicalTrials.gov. There is typically a delay of a few days between the first submitted date and the record's availability on ClinicalTrials.gov (the first posted date).
August 10, 2023

First Submitted That Met QC Criteria

First Submitted That Met QC Criteria

The date on which the study sponsor or investigator first submits a study record that is consistent with National Library of Medicine (NLM) quality control (QC) review criteria. The sponsor or investigator may need to revise and submit a study record one or more times before NLM's QC review criteria are met. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
September 27, 2023

First Posted (Actual)

First Posted

The date on which the study record was first available on ClinicalTrials.gov after National Library of Medicine (NLM) quality control (QC) review has concluded. There is typically a delay of a few days between the date the study sponsor or investigator submitted the study record and the first posted date.
October 5, 2023

Study Record Updates

Last Update Posted (Actual)

Last Update Posted

The most recent date on which changes to a study record were made available on ClinicalTrials.gov. There may be a delay between when the changes were submitted to ClinicalTrials.gov by the study's sponsor or investigator (the last update submitted date) and the last update posted date.
July 2, 2026

Last Update Submitted That Met QC Criteria

Last Update Submitted That Met QC Criteria

The most recent date on which the study sponsor or investigator submitted changes to a study record that are consistent with National Library of Medicine (NLM) quality control (QC) review criteria. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
June 30, 2026

Last Verified

Last Verified

The most recent date on which the study sponsor or investigator confirmed the information about a clinical study on ClinicalTrials.gov as accurate and current. If a study with a recruitment status of recruiting; not yet recruiting; or active, not recruiting has not been confirmed within the past 2 years, the study's recruitment status is shown as unknown.
June 1, 2026

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

Other Study ID Numbers

Identifiers or ID numbers other than the NCT number that are assigned to a clinical study by the study's sponsor, funders, or others. These numbers may include unique identifiers from other trial registries and National Institutes of Health grant numbers.
  • STUDY23040121
  • UX007-IST237 (Other Grant/Funding Number: Ultragenyx Pharmaceutical Inc.)

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

Yes

Studies a U.S. FDA-regulated device product

No

product manufactured in and exported from the U.S.

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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