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Hope for rare genetic disorder: new drug trial targets core symptoms

NCT ID NCT07281079

Disease control Sponsor: Neuren Pharmaceuticals Limited Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now This study
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 26, 2026 · Last updated Sep 21, 2026 · Updated 8 times

Summary

This study tests an oral drug called NNZ-2591 in 160 children aged 3 to 12 with Phelan-McDermid syndrome, a rare genetic condition. The drug is compared to a placebo to see if it improves communication and daily function. The trial is double-blind, meaning neither the families nor the doctors know who gets the real drug.

What this could mean

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

Active substance
NNZ-2591 (an oral drug taken twice daily)
What this could lead to
If it works, this could provide a treatment to improve communication and daily living skills in children with Phelan-McDermid syndrome.
What could go wrong
This is a Phase 3 trial, but it is still experimental. The drug may not work better than placebo, and side effects are possible. Results may not apply to all patients.

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 3

Large-scale testing in a bigger group. Usually the last step before a treatment can be approved.

Participants

About 160 people

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

Started

Nov 2025

Expected to finish

Nov 2027

An estimate. End dates often move.

Lead sponsor

A company

The lead sponsor is a pharmaceutical, biotech, or medical-device company.

Who can take part

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

Ages

3 to 12 years

Sex

Anyone

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: 1. Male or female pediatric participants with Phelan-McDermid syndrome ages 3 to 12 years (inclusive) at the time of signing the informed consent. 2. Clinical diagnosis of Phelan-McDermid syndrome with a documented disease-causing genetic abnormality of SHANK3. 3. Body weight ≥ 10 kg at Screening. 4. Participants with a PMSA-S overall score ≥ 3 at the Screening and Baseline visits. 5. Not actively undergoing regression or loss of skills. Exclusion Criteria: 1. Use of exclusionary medication or unstable treatment regimens of acceptable concomitant medications as required by the protocol. 2. Current treatment with more than 3 allowable psychotropic medications. 3. Participants with seizures must be controlled on no more than 2 anticonvulsant medications (not counting rescue medications). 4. Psychotropic medications or any other medication used for a chronic illness (not including antibiotics, pain relievers, anti-diarrheals, and laxatives) with doses and dosing regimen that have not been stable for at least 4 weeks before Screening. If the treatment was discontinued, the discontinuation must have occurred no fewer than 2 weeks before the start of Screening. 5. Any intercurrent seizures in the past 6 months and /or more than 1 seizure in the past 12 months. •A single febrile seizure in the 6 months prior to screening is allowable if no rescue medication was required. 6. Abnormal liver function laboratory results during the Screening period, as defined by the protocol 7. Abnormal QT interval on Screening ECG as defined by the protocol.

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Conditions

The condition(s) this trial relates to.

Phelan-McDermid syndrome

As listed by the trial registrant

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

Phelan-mcdermid syndrome

How to take part

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

  1. The places running it

    17 sites in 2 countries. The list below names each one and where it is.

  2. The official record

    ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.

    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

  • Neuren PMS-301 Site #105

    RECRUITING

    Atlanta, Georgia, 30322, United States

  • Neuren PMS-301 Site #107

    RECRUITING

    Washington D.C., District of Columbia, 20010, United States

  • Neuren PMS-301 Site #112

    RECRUITING

    Palo Alto, California, 94305, United States

  • Neuren PMS-301 Site #113

    RECRUITING

    Charlottesville, Virginia, 22903, United States

  • Neuren PMS-301 Site #116

    RECRUITING

    Birmingham, Alabama, 35233, United States

  • Neuren PMS-301 Site #117

    RECRUITING

    Ann Arbor, Michigan, 48109, United States

  • Neuren PMS-301 Site#101

    RECRUITING

    New York, New York, 10029, United States

  • Neuren PMS-301 Site#102

    RECRUITING

    Chicago, Illinois, 60612, United States

  • Neuren PMS-301 Site#103

    RECRUITING

    San Diego, California, 92123, United States

  • Neuren PMS-301 Site#104

    RECRUITING

    Lexington, Massachusetts, 02421, United States

  • Neuren PMS-301 Site#106

    RECRUITING

    Brookline, Massachusetts, 02445, United States

  • Neuren PMS-301 Site#108

    RECRUITING

    Cincinnati, Ohio, 45229, United States

  • Neuren PMS-301 Site#109

    RECRUITING

    Chevy Chase, Maryland, 20815, United States

  • Neuren PMS-301 Site#111

    RECRUITING

    San Rafael, California, 94903, United States

  • Neuren PMS-301 Site#115

    RECRUITING

    Houston, Texas, 77030, United States

  • Neuren PMS-301 Site#122

    RECRUITING

    Glendale, California, 91203, United States

  • Neuren PMS-301 Site#201

    RECRUITING

    Toronto, Ontario, M4G 1R8, Canada

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