Using triheptanoin to prevent low blood sugar in patients with MCADD

A Phase II, Escalating Dose, Open Label Study to Evaluate the Safety of Triheptanoin for the Prevention of Hypoglycemia in Patients With Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD)

This study is testing if the medication triheptanoin can help adults with medium-chain acyl-CoA dehydrogenase deficiency (MCADD) prevent low blood sugar during fasting.

Quick facts

• Phase: PHASE2
• Study type: Interventional
• Enrollment: 8 (estimated)
• Ages: 16 Years and up
• Sex: All
• Sponsor: University of Pittsburgh (other)
• Locations: 1 site (Pittsburgh, Pennsylvania)
• Trial ID: NCT06067802 on ClinicalTrials.gov

What this trial studies

This study tests the medication triheptanoin in adult patients diagnosed with medium-chain acyl-CoA dehydrogenase deficiency (MCADD). Participants will undergo three overnight admissions at the Clinical and Translational Research Center at UPMC Children's Hospital of Pittsburgh over a total study duration of 10 weeks. During these admissions, subjects will fast for up to 24 hours, followed by a meal and administration of triheptanoin, with careful monitoring of safety and efficacy throughout the study. Blood work will be conducted to assess the medication's effects and tolerability.

Who should consider this trial

Good fit: Ideal candidates are adults aged 16 years and older with a confirmed diagnosis of MCADD.

Not a fit: Patients with active infections or liver disease may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could provide a new treatment option to prevent hypoglycemia in patients with MCADD.

How similar studies have performed: Previous studies have shown promise in using triheptanoin for similar metabolic disorders, suggesting potential efficacy in MCADD.

Eligibility 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

Where this trial is running

Pittsburgh, Pennsylvania

• UPMC Children's Hospital of Pittsburgh — Pittsburgh, Pennsylvania, United States (RECRUITING)

Study contacts

• Principal investigator: Gerard Vockley, MD, PhD — UPMC Children's Hospital of Pittsburgh
• Study coordinator: Elizabeth McCracken, MS, CGC

Conditions: Medium-chain Acyl-CoA Dehydrogenase Deficiency