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

NCT06067802 | Suspended Phase 2 DMC FDA Drug

• 2 other identifiers: STUDY23040121UX007-IST237
• Study Type: interventional
• Target: 8
• Locations: 1 country
• Sites: 1

Brief 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. 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.

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

  10 weeks

Secondary Outcomes (22)

• Normalization of biochemical markers of disease (plasma acylcarnitine)

  10 weeks

• Normalization of biochemical markers of disease (plasma acylcarnitine)

  10 weeks

• Normalization of biochemical markers of disease (plasma acylcarnitine)

  10 weeks

• Normalization of biochemical markers of disease (plasma acylcarnitine)

  10 weeks

• Normalization of biochemical markers of disease (plasma acylcarnitine)

  10 weeks

Study Arms (1)

Triheptanoin

EXPERIMENTAL

Open label study

Drug: Triheptanoin

Interventions

Triheptanoin DRUG

Open-label design with doses of triheptanoin up to 1.0 gm/kg triheptanoin

Also known as: Dojolvi

Triheptanoin

Eligibility Criteria

• Age: 16 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• 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.

You may not qualify if:

• 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

Sponsors & Collaborators

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

Study Sites (1)

UPMC Children's Hospital of Pittsburgh

Pittsburgh, Pennsylvania, 15224, United States

Location

MeSH Terms

Conditions

Medium chain acyl CoA dehydrogenase deficiency

Interventions

triheptanoin

Study Officials

• Gerard Vockley, MD, PhD

  UPMC Children's Hospital of Pittsburgh

  PRINCIPAL INVESTIGATOR

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: Chief, Division of Genetic and Genomic Medicine

Study Record Dates

• First Submitted: August 10, 2023
• First Posted: October 5, 2023
• Study Start (Estimated): August 1, 2026
• Primary Completion (Estimated): August 1, 2028
• Study Completion (Estimated): March 1, 2029
• Last Updated: April 21, 2026

Record last verified: 2025-09

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)