Triheptanoin for people with medium-chain acyl-CoA dehydrogenase deficiency (MCADD)

A Phase II, 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 trial will try the medicine triheptanoin in people age 4 and older with MCADD to see if it is safe and helps their metabolism.

Quick facts

• Phase: PHASE2
• Study type: Interventional
• Enrollment: 24 (estimated)
• Ages: 4 Years and up
• Sex: All
• Sponsor: University of Pittsburgh (other)
• Drugs / interventions: methotrexate
• Locations: 1 site (Pittsburgh, Pennsylvania)
• Trial ID: NCT07097311 on ClinicalTrials.gov

What this trial studies

This Phase 2, outpatient study enrolls participants 4 years and older with genetically confirmed MCADD and uses triheptanoin given in weight-based doses. Participants complete a screening visit, a 10-day continuous glucose monitor (CGM) run-in, a fasting baseline dosing visit, a 28-day at-home dose titration, and a final fasting visit with post-dose monitoring and CGM logging, for about eight weeks total. Key procedures include fasting labs, meal challenge with dosing, CGM placement and monitoring, and regular blood draws at the Clinical and Translational Research Center at UPMC Children's Hospital of Pittsburgh. The study primarily monitors safety and metabolic response to triheptanoin during controlled dosing and real-world use at home.

Who should consider this trial

Good fit: Ideal candidates are people aged 4 years and older with molecularly confirmed MCADD who can tolerate blood draws, wear a continuous glucose monitor, and follow study dosing and contraception rules if applicable.

Not a fit: Those under age 4, without confirmed MCADD, unable or unwilling to comply with CGM or blood draws, pregnant individuals, or people using conflicting investigational drugs are unlikely to benefit from participation.

Why it matters

Potential benefit: If successful, triheptanoin could improve energy metabolism and reduce metabolic instability or crises in people with MCADD.

How similar studies have performed: Triheptanoin is already FDA-approved for long-chain fatty acid oxidation disorders and early studies and case reports suggest potential benefit in fatty acid oxidation disorders including preliminary data in MCADD, but randomized data in MCADD are limited.

Eligibility criteria

Inclusion Criteria:

1. A diagnosis of MCADD with molecular confirmation
2. ≥4 years of age
3. Able to perform and comply with study activities placement of a continuous glucose monitor, IV catheter, and all blood draws.
4. Negative pregnancy test for all female subjects of childbearing age.
5. Signed informed consent by the subject or parent/guardian of minors.
6. All females of childbearing age and all sexually active males must agree to use an acceptable method of contraception throughout the study. Appropriate contraceptive methods include hormonal contraceptives (oral, injected, implanted, or transdermal), tubal ligation, intrauterine device, hysterectomy, vasectomy, or double barrier methods. Abstinence is an acceptable form of birth control, though appropriate contraception must be used if the subject becomes sexually active.
7. Willing and able to adhere to requirements for maintaining continuous glucose monitoring.

Exclusion Criteria:

1. Use of any investigational drug within 30 days of Screening (Visit 1).
2. Active infection (viral or bacterial) or any other intercurrent condition as reported by the subject or noted on physical exam at screening.
3. 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.
4. Known hypersensitivity to triheptanoin
5. Breastfeeding or lactating females.
6. Subjects with type 1 or type 2 diabetes, or who take medications as part of their routine care that can cause hypoglycemia
7. Subjects who are taking medications in the antimetabolite drug class (e.g., hydroxyurea, 5-fluorouracil (5-FU), methotrexate) will be excluded; these medications can interfere with the DEXCOM sensor and cause inaccurate glucose readings

Where this trial is running

Pittsburgh, Pennsylvania

• Children's Hospital of Pittsburgh of UPMC — Pittsburgh, Pennsylvania, United States (RECRUITING)

Study contacts

• Principal investigator: Gerard Vockley — UPMC Children's Hospital of Pittsburgh
• Study coordinator: Elizabeth McCracken

Conditions: Medium-chain Acyl-CoA Dehydrogenase Deficiency