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

• Status: Recruiting
• Trial end date: 2025-04-01
• Target enrollment: 0
• Participant gender: All

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.

• Phase: Phase 2
• Accepts Healthy Volunteers?: No

Details

• Lead Sponsor: Jerry Vockley, MD, PhD
• Collaborator: Ultragenyx Pharmaceutical Inc

Criteria

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 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.

Exclusion Criteria:

• 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