A Phase II, Open Label Study to Evaluate the Safety of Triheptanoin for the Prevention of Hypoglycemia in Patients With Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD)
Jerry Vockley, MD, PhD
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.
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. Thi…
Eligibility
- Age range
- 4+ years
- Sex
- All
- Healthy volunteers
- No
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…
Interventions
- DrugTriheptanoin
Open-label design with doses of triheptanoin up to 1.0 gm/kg/day. The dose will be titrated from Day 1-24.
Location
- Children's Hospital of Pittsburgh of UPMCPittsburgh, Pennsylvania