NNZ-2591 for children with Phelan-McDermid syndrome

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This Phase 3, randomized, double-blind, parallel-group (2-arm) trial compares orally administered NNZ-2591 to matching placebo in pediatric participants with genetically confirmed Phelan-McDermid syndrome. After a 4-week screening period to confirm eligibility and baseline measures, participants are randomized 1:1 to receive NNZ-2591 or placebo for 13 weeks, followed by a 2-week safety follow-up. Key eligibility includes ages 3–12, documented SHANK3 abnormality, body weight ≥10 kg, a PMSA-S overall score ≥3, and no active regression. The study monitors efficacy and safety outcomes across multiple clinical sites in the United States.

Why it matters

Who can join: the full rules

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.

Where it's running

• Neuren PMS-301 Site #116
  Birmingham, Alabama, United States Recruiting
• Neuren PMS-301 Site#122
  Glendale, California, United States Recruiting
• Neuren PMS-301 Site #112
  Palo Alto, California, United States Recruiting
• Neuren PMS-301 Site#103
  San Diego, California, United States Recruiting
• Neuren PMS-301 Site#111
  San Rafael, California, United States Recruiting
• Neuren PMS-301 Site #107
  Washington D.C., District of Columbia, United States Recruiting

Study contacts

• Study coordinator: Medical Information Lead
• Email: medicalinformation@neurenpharma.com
• Phone: 231-203-8050

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

• NNZ-2591 in kids with Phelan-McDermid syndrome

  This study tests whether NNZ-2591 is safe and helpful for children with Phelan-McDermid syndrome over a year.

  Recruiting at 12 sites Phase 3 Neuren Pharmaceuticals Limited · Birmingham, Alabama and 11 other locations · NCT07593391

• Gene therapy for children and adults with SHANK3 haploinsufficiency

  This study is testing a new gene therapy for children and possibly adults with SHANK3 haploinsufficiency to see if it is safe and helps improve their condition.

  Recruiting at 3 sites Phase 1/2 Jaguar Gene Therapy, LLC · Chicago, Illinois and 2 other locations · NCT06662188

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.