Study to Evaluate the Use of Triheptanoin in Patients With Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD)

NCT07097311 | Recruiting Phase 2 FDA Drug

• 1 other identifier: STUDY25050173
• Study Type: interventional
• Target: 24
• Locations: 1 country
• Sites: 1

Brief Summary

This is a medical research study to test a medication in patients 4 years of age and older 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 (FAODs). 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 patients with MCADD.

Conditions

Medium-chain Acyl-CoA Dehydrogenase Deficiency

Keywords

Medium-chain Acyl-CoA Dehydrogenase Deficiency

Outcome Measures

Primary Outcomes (1)

• Number of participants with treatment related adverse events as assessed by CTCAE v5.0

  8 weeks

Secondary Outcomes (2)

• Length of time before glucose falls below 60 mg/dL

  8 weeks

• Length of time before glucose falls below 70 mg/dL

  8 weeks

Other Outcomes (1)

• Length of time before glucose falls below 80 mg/dL

  8 weeks

Study Arms (1)

1.0 gm/kg/day triheptanoin

EXPERIMENTAL

Up to 24 subjects (8: 4-9 years of age, 8: 10-15 years of age; 8: 16 years of age or older) will take 1.0 gm/kg/day divided into 3 or 4 doses

Drug: Triheptanoin

Interventions

Triheptanoin DRUG

Open-label design with doses of triheptanoin up to 1.0 gm/kg/day. The dose will be titrated from Day 1-24.

Also known as: Dojolvi

1.0 gm/kg/day triheptanoin

Eligibility Criteria

• Age: 4 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• A diagnosis of MCADD with molecular confirmation
• ≥4 years of age
• Able to perform and comply with study activities placement of a continuous glucose monitor, IV catheter, and all blood draws.
• Negative pregnancy test for all female subjects of childbearing age.
• Signed informed consent by the subject or parent/guardian of minors.
• 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.
• Willing and able to adhere to requirements for maintaining continuous glucose monitoring.

You may not qualify if:

• Use of any investigational drug within 30 days of Screening (Visit 1).
• Active infection (viral or bacterial) or any other intercurrent condition as reported by the subject or noted on physical exam 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.
• Known hypersensitivity to triheptanoin
• Breastfeeding or lactating females.
• Subjects with type 1 or type 2 diabetes, or who take medications as part of their routine care that can cause hypoglycemia
• 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

Sponsors & Collaborators

• Ultragenyx Pharmaceutical Inc: collaborator
• Jerry Vockley, MD, PhD: lead

Study Sites (1)

Children's Hospital of Pittsburgh of UPMC

Pittsburgh, Pennsylvania, 15224, United States

RECRUITING

MeSH Terms

Conditions

Medium chain acyl CoA dehydrogenase deficiency

Interventions

triheptanoin

Study Officials

• Gerard Vockley

  UPMC Children's Hospital of Pittsburgh

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Elizabeth McCracken

CONTACT

412-692-5662; elizabeth.mccracken@chp.edu

Study Design

• Study Type: interventional
• Phase: phase 2
• Allocation: NA
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR INVESTIGATOR
• PI Title: Professor

Model Details: The study will include 3 cohorts with up to 8 participants enrolled in each cohort. Cohort 1: ≥ 16 years of age; Cohort 2: 10-15 years of age; Cohort 3: 4-9 years of age. At least 2 participants will be enrolled in Cohort 1 to assess for any safety signals. If no safety issues are identified, enrollment in Cohort 2 will begin. At least 2 participants will be enrolled in Cohort 2 to assess for any safety signals before opening enrollment in Cohort 3.

Study Record Dates

• First Submitted: July 24, 2025
• First Posted: July 31, 2025
• Study Start (Estimated): July 1, 2026
• Primary Completion (Estimated): December 1, 2027
• Study Completion (Estimated): April 1, 2028
• Last Updated: March 5, 2026

Record last verified: 2026-03

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)