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) caused by the common ACADM c.985 A\>G (K304E) mutation. The medication is sodium phenylbutyrate (ACER-001), which is currently FDA approved for the treatment of Urea Cyle Disorders. Previous research suggests that sodium phenylbutyrate may also be effective in the treatment MCADD. This study will investigate the safety and efficacy (how well it works) of sodium phenylbutyrate in patients with MCADD.
A diagnosis of MCADD and molecular confirmation of at least one copy of the common c.985A>G mutation.
≥4 years of age
Able to perform and comply with study activities placement of a continuous glucose monitor, IV catheter, and all blood draws.
Negative pregnancy test for all female subjects of childbearing age.
Use of any investigational drug within 30 days of Day 1.
Active infection (viral or bacterial) or any other intercurrent condition as reported by the subject or noted on physical exam at screening.
Any clinical or laboratory abnormality of Grade 3 or greater severity according to the CTCAE v5.0, or Grade 3 elevations in liver enzymes, defined as levels 5-20 times ULN in alanine aminotransferase (ALT/SGPT), or aspartate aminotransferase (AST/SGOT) in a clinically stable subject.
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.
Single group
Sodium phenylbutyrate
DrugOpen-label design with doses of sodium phenylbutyrate at 4.0 g/m2/day
Number of participants with treatment related adverse events as assessed by CTCAE v5.0
Length of time before glucose falls below 60 mg/dL
Comparison of the length of time each participant's glucose level stays above 60 mg/dL, comparing their values from the run-in period to the results obtained between Visits 2 and 3
Length of time before glucose falls below 70 mg/dL
Comparison of the length of time each participant's glucose level stays above 70 mg/dL, comparing their values from the run-in period to the results obtained between Visits 2 and 3
Length of time before glucose falls below 80 mg/dL
Comparison of the length of time each participant's glucose level stays above 80 mg/dL, comparing their values from the run-in period to the results obtained between Visits 2 and 3
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Jerry Vockley, MD, PhD
Lead sponsor
University of Pittsburgh
Sponsor institution
Zevra Therapeutics
Collaborator
