Sodium Phenylbutyrate for Medium-Chain Acyl-CoA Dehydrogenase Deficiency
What You Need to Know Before You Apply
What is the purpose of this trial?
This trial tests a medication called sodium phenylbutyrate to determine its effectiveness for individuals with medium-chain acyl-CoA dehydrogenase deficiency (MCADD). MCADD is a genetic disorder that impairs the body's ability to break down certain fats into energy, particularly during fasting. The trial evaluates the safety and effectiveness of this medication, already approved for a similar disorder. Individuals with MCADD who have the specific genetic mutation c.985 A>G and can manage regular glucose monitoring may be suitable candidates for this study. As a Phase 2 trial, the research focuses on assessing the treatment's effectiveness in an initial, smaller group, allowing participants to contribute to significant advancements in MCADD treatment.
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.
Is there any evidence suggesting that sodium phenylbutyrate is likely to be safe for humans?
Research has shown that sodium phenylbutyrate, the treatment being tested, already has FDA approval for treating Urea Cycle Disorders. This approval confirms its safety for individuals with those conditions. Previous patients have demonstrated that sodium phenylbutyrate is generally well-tolerated, with most side effects being mild, such as an upset stomach or changes in taste. While specific information on its use for medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is not yet available, its approval for another condition offers some reassurance about its safety.12345
Why do researchers think this study treatment might be promising for MCADD?
Researchers are excited about sodium phenylbutyrate for treating Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) because it offers a unique approach compared to current options like diet management and emergency glucose administration. Unlike these existing treatments, sodium phenylbutyrate targets the underlying metabolic process by potentially enhancing the removal of toxic fatty acid metabolites. This could lead to more effective management of symptoms and reduce the frequency of metabolic crises. By addressing the root cause rather than just managing symptoms, sodium phenylbutyrate has the potential to significantly improve the quality of life for those with MCADD.
What evidence suggests that sodium phenylbutyrate might be an effective treatment for MCADD?
Research has shown that sodium phenylbutyrate, a drug approved for treating urea cycle disorders, might also aid those with medium-chain acyl-CoA dehydrogenase deficiency (MCADD). This medication helps the body eliminate ammonia, which can be harmful if it accumulates excessively. Earlier studies demonstrated health improvements in people with MCADD, suggesting its potential effectiveness for this condition. Although primarily used for another disorder, its mechanism may also benefit individuals with MCADD by addressing related metabolic issues. Participants in this trial will receive sodium phenylbutyrate to evaluate its effectiveness for MCADD.14678
Who Is on the Research Team?
Gerard Vockley, MD, PhD
Principal Investigator
UPMC Children's Hospital of Pittsburgh
Are You a Good Fit for This Trial?
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
Exclusion Criteria
Timeline for a Trial Participant
Screening
Participants are screened for eligibility to participate in the trial
Run-in
Participants undergo training on the use of a continuous glucose monitor (CGM) and wear it for 10 days
Treatment
Participants receive sodium phenylbutyrate (ACER-001) and undergo pharmacokinetics sampling
Follow-up
Study staff contact participants by phone to follow up on any adverse events
What Are the Treatments Tested in This Trial?
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.
How Is the Trial Designed?
1
Treatment groups
Experimental Treatment
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
Find a Clinic Near You
Who Is Running the Clinical Trial?
Jerry Vockley, MD, PhD
Lead Sponsor
Zevra Therapeutics
Industry Sponsor
Citations
NCT06773026 | Study of Sodium Phenylbutyrate (ACER ...
This study will investigate the safety and efficacy (how well it works) of sodium phenylbutyrate in patients with MCADD. Detailed Description. Participation in ...
2.
clinicaltrials.gov
clinicaltrials.gov/study/NCT06069375?intr=AMMONAPS&aggFilters=studyType:int&viewType=Table&rank=5Study of Sodium Phenylbutyrate (ACER-001) for the ...
This study will investigate the safety and efficacy (how well it works) of sodium phenylbutyrate in patients with MCADD. Detailed Description. Participation in ...
Evidence for involvement of medium chain acyl-CoA ...
Sodium phenylbutyrate is used for treating urea cycle disorders, providing an alternative for ammonia excretion. Following conversion to its CoA ...
Clinical and biochemical outcomes of patients with medium ...
Clinical and biochemical outcomes of patients with medium-chain acyl-CoA dehydrogenase deficiency ... Sodium phenylbutyrate improved the clinical state in ...
Sodium Phenylbutyrate for MCADD · Info for Participants
Previous research suggests that sodium phenylbutyrate may also be effective in the treatment MCADD. This study will investigate the safety and efficacy (how ...
Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
Individuals with medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency typically appear normal at birth, and many are diagnosed through newborn screening ...
Study of Sodium Phenylbutyrate (ACER-001) for the ...
Previous research suggests that sodium phenylbutyrate may also be effective in the treatment MCADD. This study will investigate the safety and efficacy (how ...
8.
withpower.com
withpower.com/trial/sodium-phenylbutyrate-for-medium-chain-acyl-coa-dehydrogenase-deficiency-c847fSodium Phenylbutyrate for Medium-Chain Acyl-CoA ...
... Sodium Phenylbutyrate will have tolerable side effects & efficacy for patients with MCAD deficiency and Medium-Chain Acyl-CoA Dehydrogenase Deficiency. See
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