Sodium Phenylbutyrate for Medium-Chain Acyl-CoA Dehydrogenase Deficiency

Overseen By Elizabeth McCracken

Age: Any Age

Sex: Any

Trial Phase: Phase 2

Sponsor: Jerry Vockley, MD, PhD

Must not be taking: Corticosteroids, Valproic acid, Antimetabolites, others

Disqualifiers: Renal insufficiency, Diabetes, Active infection, others

No Placebo Group All trial participants will receive the active study treatment (no placebo)

Prior Safety Data This treatment has passed at least one previous human trial

Compensation: Varies

Number of Visits: 4

Duration: 4 weeks

24 Participants Needed

Trial Summary

What is the purpose of this trial?

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.

Will I have to stop taking my current medications?

The trial requires that you stop taking certain medications, such as those affecting kidney function, increasing protein breakdown, or raising ammonia levels, within 48 hours before starting and throughout the study. You also need to stop using sodium benzoate one week before starting. If you are on medications that can cause low potassium or affect glucose readings, you may not be eligible to participate.

Research Team

Gerard Vockley, MD, PhD

Principal Investigator

UPMC Children's Hospital of Pittsburgh

Eligibility Criteria

This trial is for pediatric and adult patients aged 4 years or older with Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) due to a specific genetic mutation. Participants must have the common ACADM c.985 A>G (K304E) mutation.

Inclusion Criteria

I have MCADD with at least one common mutation confirmed.

I am 4 years old or older.

Able to perform and comply with study activities including placement of a continuous glucose monitor, IV catheter, and all blood draws

Exclusion Criteria

I have diabetes or take medication that can lower my blood sugar.

My kidney function is reduced.

I do not have any active infections or other ongoing health issues.

Timeline

Screening

Participants are screened for eligibility to participate in the trial

1 week

1 visit (in-person)

Run-in

Participants undergo training on the use of a continuous glucose monitor (CGM) and wear it for 10 days

10 days

Home-based

Treatment

Participants receive sodium phenylbutyrate (ACER-001) and undergo pharmacokinetics sampling

4 weeks

2 visits (in-person)

Follow-up

Study staff contact participants by phone to follow up on any adverse events

1 week

1 call (virtual)

Treatment Details

Interventions

• Sodium Phenylbutyrate

Trial Overview The study tests Sodium Phenylbutyrate (ACER-001), already approved for Urea Cycle Disorders, on its safety and effectiveness in treating MCADD in individuals with the specified genetic mutation.

Participant Groups

Group I: 4.0 g/m2/day BID sodium phenylbutyrate Experimental Treatment 1 Intervention

Up to 24 subjects (12: ages 4-9 years old; 12:10 years of age and older) will be randomized to take 4.0 g/m2/day divided into two daily doses

Who Is Running the Clinical Trial?

Jerry Vockley, MD, PhD

Lead Sponsor

Trials

6

Recruited

460+

Zevra Therapeutics

Industry Sponsor

Trials

4

Recruited

510+