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Experimental drug targets rare brain disease in first human test

NCT ID NCT07125066

Disease control Sponsor: Jerry Vockley, MD, PhD Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only This study
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jun 24, 2026 · Last updated Jun 27, 2026 · Updated 2 times

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 brain damage and seizures. The goal is to see if the drug is safe and can lower harmful acid levels in the body. Researchers will also watch for changes in seizures and breathing support needs.

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 called Olpruva)
What this could lead to
If it works, this could point toward a treatment for combined D,L-2-hydroxyglutaric aciduria, a rare metabolic disorder.
What could go wrong
This is a very early phase 1 trial with only one patient, so results may not apply to others. The drug may cause side effects or fail to improve symptoms.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Phase

Phase 1

The first testing in people. Mainly checks safety and dose, usually in a small group.

Participants

About 1 person

The number the study aims to enrol. It can still change while the study runs.

Started

Jul 2025

Expected to finish

Dec 2027

An estimate. End dates often move.

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Ages

Children (under 18), adults (18 to 64) and older adults (65 and over)

Sex

Male participants only

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

Inclusion Criteria: * Single patient with Combined D,L-2-hydroxyglutaric aciduria * Parental permission must be given at the start of the protocol. * Parents willing to adhere to the protocol Exclusion Criteria: * Refusal or withdrawal of consent. * Drug Intolerance.

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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.

Combined D,L-2-hydroxyglutaric aciduria

How to take part

Only the study team decides who joins. These are the ways to reach them.

  1. The places running it

    1 site. The list below names each one and where it is.

  2. The official record

    The full official record for this study. This one lists no contact details, but it is the first place any would appear.

    Open the record ↗

  3. A doctor treating you

    A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.

Contacts and locations

Locations

  • Children's Hospital of Pittsburgh of UPMC

    Pittsburgh, Pennsylvania, 15224, United States