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

Last updated: February 5, 2025
Sponsor: Jerry Vockley, MD, PhD
Overall Status: Active - Recruiting

Phase

2

Condition

Hormone Deficiencies

Diabetes (Pediatric)

Treatment

Triheptanoin

Clinical Study ID

NCT06067802
STUDY23040121
UX007-IST237
  • Ages > 16
  • All Genders

Study 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.

Eligibility Criteria

Inclusion

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 tothe research unit at UPMC Children's Hospital Pittsburgh, placement of an IVcatheter, and all blood draws.

  • Negative pregnancy test for all female subjects of child bearing age. Females ofchildbearning potential must agree to use a highly effective method ofcontraception, and males must agree not to father a child or donate sperm. Trueabstinence for the duration of the study will also be accepted.

  • Signed informed consent for subjects ≥ 18 years, or assent by subjects age 16-17years with parental consent for underaged subjects.

Exclusion

Exclusion Criteria:

  • Use of any investigational drug within 30 days of screening.

  • Active infection (viral or bacterial) or any other intercurrent condition asreported 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 atscreening

  • Any clinical or laboratory abnormality or medical condition that, at the discretionof the investigator, may put the subject at increased risk by participating in thisstudy.

  • Pregnant, planning to become pregnant, breastfeeding or lactating females.

  • Diagnosis of pancreatic insufficiency or concomitant use of a pancreatic lipaseinhibitor (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 theirroutine care that can cause hypoglycemia

Study Design

Total Participants: 8
Treatment Group(s): 1
Primary Treatment: Triheptanoin
Phase: 2
Study Start date:
July 01, 2025
Estimated Completion Date:
July 31, 2027

Study 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.

Connect with a study center

  • UPMC Children's Hospital of Pittsburgh

    Pittsburgh, Pennsylvania 15224
    United States

    Active - Recruiting

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