Sodium Phenylbutyrate for Medium-Chain Acyl-CoA Dehydrogenase Deficiency

Recruiting in Palo Alto (17 mi)

Overseen ByGerard Vockley, MD, PhD

Age: Any Age

Sex: Any

Travel: May be covered

Time Reimbursement: Varies

Trial Phase: Phase 2

Recruiting

Sponsor: Jerry Vockley, MD, PhD

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

Disqualifiers: Renal insufficiency, Diabetes, Active infection, others

No Placebo Group

Prior Safety Data

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.

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.

I am not pregnant.

Exclusion Criteria

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

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

My kidney function is reduced.

I am currently taking medication that affects cell growth.

Participant Groups

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.

1Treatment groups

Experimental Treatment

Group I: 4.0 g/m2/day BID sodium phenylbutyrateExperimental Treatment1 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