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

NCT ID: NCT07097311

Last Updated: 2025-07-31

Basic Information

• Recruitment Status: RECRUITING
• Clinical Phase: PHASE2
• Total Enrollment: 24 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2025-11-30
• Study Completion Date: 2027-03-31

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.

Detailed Description

Participation in the study will require four outpatient visits 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 participation is approximately 8 weeks.

Participants will come in for a screening visit (Visit 1) to where they will undergo some lab work testing to confirm they are eligible for the study. If it's determined that they are eligible, they will undergo training on the use of a continuous glucose monitor (CGM). They will be sent home and asked to wear the CGM for the next 10 days. This 10-day period is considered the run-in period.

Following the run-in period, participants will return to the site (Visit 2) in a fasting state. Fasting labs will be drawn, then the participant will be provided with a meal and they will then be dosed with triheptanoin. Following the dose of triheptanoin, the participant will be sent home with instructions on how to titrate (increase) the dose of triheptanoin over the next 28 days.

Following the 28 day dose titration period, the participant will return to the site (Visit 3) in a fasting state. Fasting labs will be drawn, then the participant will be provided with a meal and then will then be dosed with triheptanoin Following the dose of ACER-001, the participant will be sent home with continuous glucose monitoring and will be asked to log their triheptanoin doses as well as overnight fasting times.

Triheptanoin doses will be weight-based with the maximum dose being 1.0 gm/kg daily divided into 3 or 4 doses.

Participants will be asked to return approximately 2 weeks later for Visit 4 to complete the same procedures outlined for Visit 3.

Study staff will contact the participant by phone approximately 1 week after Visit 4 to follow up on any adverse events.

All study procedures will be done at no cost to the participants.

Conditions

Medium-chain Acyl-CoA Dehydrogenase Deficiency

Keywords

Medium-chain Acyl-CoA Dehydrogenase Deficiency

Study Design

• Allocation Method: NA
• Intervention Model: SINGLE_GROUP
• Primary Study Purpose: TREATMENT
• Blinding Strategy: NONE

Study Groups

1.0 gm/kg/day triheptanoin

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

Group Type: EXPERIMENTAL

Triheptanoin

Intervention Type: DRUG

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

Interventions

Triheptanoin

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

Intervention Type: DRUG

Other Intervention Names

Dojolvi

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

• Minimum Eligible Age: 4 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Ultragenyx Pharmaceutical Inc

INDUSTRY

Sponsor Role: collaborator

Jerry Vockley, MD, PhD

OTHER

Sponsor Role: lead

Responsible Party

Jerry Vockley, MD, PhD

Professor

Responsibility Role: SPONSOR_INVESTIGATOR

Principal Investigators

Gerard Vockley

Role: PRINCIPAL_INVESTIGATOR

UPMC Children's Hospital of Pittsburgh

Locations

Children's Hospital of Pittsburgh of UPMC

Pittsburgh, Pennsylvania, United States

Site Status: RECRUITING

Countries

United States

Central Contacts

Elizabeth McCracken

Role: CONTACT

Phone: 412-692-5662

Email: elizabeth.mccracken@chp.edu

Facility Contacts

Elizabeth McCracken, MS, CGC

Role: primary

Other Identifiers

STUDY25050173

Identifier Type: -

Identifier Source: org_study_id