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Sodium Phenylbutyrate for MCADD

Phase 2

Recruiting

Led By Gerard L Vockley, MD, PhD

Research Sponsored by Jerry Vockley, MD, PhD

Eligibility Criteria Checklist

Specific guidelines that determine who can or cannot participate in a clinical trial

Must have

A diagnosis of MCADD and molecular confirmation of at least one copy of the common c.985A>G mutation.

Able to perform and comply with study activities including overnight admission to the PCTRC, placement of an IV catheter, and all blood draws.

Must not have

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), aspartate aminotransferase (AST/SGOT), or gamma glutamyl transpeptidase (GGT) in a clinically stable subject.

Timeline

Screening 3 weeks

Treatment Varies

Follow Up 4 weeks

Awards & highlights

No Placebo-Only Group

Summary

This trial will study if a medication (sodium phenylbutyrate) can safely and effectively treat a disease (MCADD) caused by a common mutation in 10+ year olds.

Who is the study for?

This trial is for people aged 10 and older with MCADD, a genetic disorder affecting fat metabolism. Participants must have the ACADM c.985 A>G mutation, be able to undergo study procedures like IV placement, and use contraception if of childbearing age. Those under certain medications or with conditions that increase risk are excluded.

What is being tested?

The study tests Sodium Phenylbutyrate (ACER-001), an FDA-approved drug for Urea Cycle Disorders, now being investigated for treating MCADD in patients with a specific genetic mutation. The focus is on its safety and effectiveness in this new application.

What are the potential side effects?

While not explicitly listed here, potential side effects may include those known from current uses of Sodium Phenylbutyrate such as digestive issues (nausea, vomiting), headaches, fatigue, skin rash or changes in blood chemistry.

Eligibility Criteria

Inclusion Criteria

You may be eligible if you check “Yes” for the criteria below

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I have MCADD with at least one common mutation confirmed.

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I can stay overnight for the study, have an IV placed, and get blood drawn.

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I am not pregnant or have confirmed it with a test.

Exclusion Criteria

You may be eligible for the trial if you check “No” for criteria below:

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

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I do not have severe health issues or very high liver enzyme levels.

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My kidney function is normal, with an eGFR of 60 mL/min/1.73m2 or higher.

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I haven't used sodium benzoate in the last week.

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I haven't taken any medication that affects kidney function or increases ammonia levels in the last 48 hours.

Timeline

Screening ~ 3 weeks3 visits

Treatment ~ Varies

Follow Up ~ 4 weeks

Screening ~ 3 weeks

Treatment ~ Varies

Follow Up ~4 weeks

This trial's timeline: 3 weeks for screening, Varies for treatment, and 4 weeks for reporting.

Treatment Details

Study Objectives

Study objectives can provide a clearer picture of what you can expect from a treatment.

Secondary study objectives

Length of fast before hypoglycemia develops

Awards & Highlights

No Placebo-Only Group

All patients enrolled in this study will receive some form of active treatment.

Trial Design

3Treatment groups

Experimental Treatment

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

Up to 8 subjects (4 - ages 10-15 years old and 4 - 16 years of age and older) will be randomized to take 4.0 g/m2/day divided into two daily doses taken 12 hours apart

Group II: 3.0 g/m2/day QD sodium phenylbutyrateExperimental Treatment1 Intervention

Up to 8 subjects (4 - ages 10-15 years old and 4 - 16 years of age and older) will be randomized to take 3.0 g/m2/day in one daily dose

Group III: 3.0 g/m2/day BID sodium phenylbutyrateExperimental Treatment1 Intervention

Up to 8 subjects (4 - ages 10-15 years old and 4 - 16 years of age and older) will be randomized to take 3.0 g/m2/day divided into two daily doses taken 12 hours apart

0 / 8Eligibility criteria met