Den här översättningen är inte klar ännu. Den här sidan är just nu på engelska.

Gå till den engelska sidan

Experimental drug targets rare brain acid disorder in first human test

NCT ID NCT07125066

First seen Jun 24, 2026 · Last updated Jun 24, 2026

Summary

This study tests a drug called ACER-001 (sodium phenylbutyrate) in a single patient with combined D,L-2-hydroxyglutaric aciduria, a rare genetic disorder that causes harmful acid buildup in the body. The goal is to see if the drug is safe and can reduce acid levels, seizures, and the need for breathing support. Because this is a very early, one-person trial, the results will be very limited.

Disclaimer Read more

This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.

Get updates

Get notified about this study

Sign up to get updates when this study changes or when new studies for COMBINED D,L-2-HYDROXYGLUTARIC ACIDURIA are added.

Vår säkerhetsrekommendation!

Genom att skicka in godkänner du våra Användarvillkor

Contacts and locations

Locations

  • Children's Hospital of Pittsburgh of UPMC

    Pittsburgh, Pennsylvania, 15224, United States

What this could mean

Our plain-language read of the trial. This is informational only — not medical advice or a prediction.

Active substance

Sodium phenylbutyrate (also known as Olpruva)

What this could lead to

If it works, this could point toward a treatment for combined D,L-2-hydroxyglutaric aciduria by lowering harmful acid levels and reducing seizures.

What could go wrong

This is a very early, single-patient study, so results may not apply to others. The drug may cause side effects or not improve symptoms.

Conditions

The condition(s) this trial relates to.

D,L-2-hydroxyglutaric aciduria

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.