Sodium Phenylbutyrate for 2-Hydroxyglutaricaciduria
What You Need to Know Before You Apply
What is the purpose of this trial?
This trial aims to test sodium phenylbutyrate for a rare condition called Combined D,L-2-hydroxyglutaric aciduria (C-2HGA), which impairs the body's ability to break down certain acids. The research seeks to determine if this drug can help manage C-2HGA symptoms in a single patient. Suitable candidates for this trial include those already diagnosed with C-2HGA who have parental permission and whose parents are committed to following the trial guidelines. As a Phase 1 trial, the research focuses on understanding how the treatment works in people, offering participants the opportunity to be among the first to receive this new treatment.
Do I have to stop taking my current medications for the trial?
The trial information does not specify whether you need to stop taking your current medications. It's best to discuss this with the trial coordinators.
Is there any evidence suggesting that sodium phenylbutyrate is likely to be safe for humans?
Earlier studies have shown that sodium phenylbutyrate holds potential for treating conditions like combined D,L-2-hydroxyglutaric aciduria. Research indicates that people generally tolerate it well. No hospitalizations, deaths, or serious side effects have been linked to its use in similar treatments, suggesting it might be a safer option for patients. However, some animal studies indicate potential risks to brain development, highlighting the need to gather safety data in humans. As this trial is in an early stage, it primarily focuses on assessing safety and side effects.12345
Why do researchers think this study treatment might be promising?
Sodium phenylbutyrate is unique because it targets 2-hydroxyglutaricaciduria by potentially reducing the buildup of harmful substances in the body. Unlike other treatments that may not directly address this specific metabolic pathway, sodium phenylbutyrate works by breaking down excess chemicals that contribute to the condition. Researchers are excited about this treatment due to its novel approach and potential to improve patient outcomes by directly tackling the root cause of metabolic imbalance.
What evidence suggests that sodium phenylbutyrate might be an effective treatment for 2-hydroxyglutaricaciduria?
Research has shown that sodium phenylbutyrate might improve the body's processing of certain chemicals in individuals with conditions like combined D,L-2-hydroxyglutaric aciduria (C-2HGA). One study using Flux Balance Analysis found that phenylbutyrate treatment enhanced the function of key metabolic processes, suggesting it could help manage C-2HGA symptoms. Although this treatment remains under study in the current trial, these early results offer hope for patients with this condition.12346
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 specifically for a patient with Combined D,L-2-hydroxyglutaric aciduria (C-2HGA), a rare metabolic disorder. The study does not list specific inclusion or exclusion criteria, indicating it may be tailored to the individual's condition and medical history.Inclusion Criteria
Exclusion Criteria
Timeline for a Trial Participant
Screening
Participants are screened for eligibility to participate in the trial
Treatment
Patient receives ACER-001 at a dose of 12 g/day, with dose adjustments if weight changes
Follow-up
Participants are monitored for safety and effectiveness after treatment
What Are the Treatments Tested in This Trial?
Interventions
- Sodium phenylbutyrate
Find a Clinic Near You
Who Is Running the Clinical Trial?
Jerry Vockley, MD, PhD
Lead Sponsor
Zevra Therapeutics
Industry Sponsor