Phase 2
N=23
An Open-Label Study of Oral NNZ-2591 in Phelan-McDermid Syndrome (PMS-001)
Phelan-McDermid Syndrome
Bottom Line
View on ClinicalTrials.gov: NCT05025241 ↗Enrolled (actual)
23
Serious AEs
5.6%
Results posted
May 2025
Primary outcome: Primary: Safety and Tolerability — 17; 17; 1; 3 Participants
Study Design & Population
- Study type
- Interventional
- Phase
- Phase 2
- Interventions
- NNZ-2591 (Drug)
- Age
- Pediatric · 3+ yrs
- Sex
- All
- Sponsor
- Neuren Pharmaceuticals Limited
- Primary completion
- Nov 2023
Outcome Measures
| Outcome | Result | p-value |
|---|---|---|
| PRIMARY Safety and Tolerability |
17; 17; 1; 3; 11; 5 | — |
| PRIMARY Pharmacokinetic - Mean AUC24 |
411 | — |
| PRIMARY Pharmacokinetic - t1/2 |
8.02 | — |
| SECONDARY CGI-I |
2.4 | <0.0001 sig |
| SECONDARY CIC |
2.7 | 0.0003 sig |
| SECONDARY CGI-S |
-0.4 | 0.0156 sig |
| SECONDARY Top 3 Concerns |
-5.9 | 0.0005 sig |
| SECONDARY MB-CDI |
12.3 | 0.0647 |
| SECONDARY ORCA |
1.9 | 0.0984 |
| SECONDARY ABC-2 |
-17.2 | 0.0013 sig |
| SECONDARY CSHQ |
-3.6 | 0.0191 sig |
| SECONDARY GIHQ |
-9.6 | 0.0013 sig |
| SECONDARY VABS-3 |
2.8 | 0.1710 |
| SECONDARY QL-Disability |
6.1 | 0.0066 sig |
| SECONDARY ICND |
0.3 | 0.1094 |
| SECONDARY PMS-DSRS |
-0.9 | 0.0156 sig |
| SECONDARY Behavior Problems Inventory - Short Form |
-5.1 | 0.0326 sig |
Summary
A study of the safety, tolerability and pharmacokinetics of NNZ-2591 and measures of efficacy in children and adolescents with Phelan-McDermid Syndrome.
Eligibility Criteria
Inclusion Criteria
- Clinical diagnosis of PMS with a documented disease-causing genetic abnormality of SHANK3.
- Males or females aged 3-12 years.
- Body weight of 12 kg or higher at Screening.
- Subjects with a Clinical Global Impression - Severity (CGI-S) score of 4 or greater at the Screening visit.
- Not actively undergoing regression or loss of skills, defined as no persistent loss of previously acquired developmental skills for a period within 3 months of the Screening visit
- Each subject must be able to swallow the study medication provided as a liquid solution.
- Caregiver(s) must have sufficient English language skills.
Exclusion Criteria
- Body weight < 12kg at screening
- Clinically significant abnormalities in safety laboratory tests and vital signs at Screening.
- Abnormal QTcF interval or prolongation at Screening.
- Any other clinically significant finding on ECG at the Screening visit.
- Positive for severe acute respiratory syndrome coronavirus 2 (SARSCoV- 2) and previous COVID 19 infection with last 12 months that required hospitalization
- Unstable or changes Psychotropic treatment 2 weeks prior to screening .
- Excluded concomitant treatments.
- Actively undergoing regression or loss of skills.
- Unstable seizure profile.
- Current clinically significant renal conditions and abnormalities
- Current clinically significant cardiovascular, renal, hepatic, gastrointestinal, respiratory, endocrine disease, or clinically significant organ impairment.
- Current clinically significant hypo or hyperthyroidism, Type 1 or Type 2 diabetes mellitus requiring insulin (whether well controlled or uncontrolled), or uncontrolled Type 1 or Type 2 diabetes.
- Has planned surgery during the study.
- History of, or current, cerebrovascular disease or brain trauma.
- History of, or current catatonia or catatonia-like symptoms.
- History of, or current, malignancy.
- Current major or persistent depressive disorder (including bipolar depression).
- Significant, uncorrected visual or uncorrected hearing impairment.
- Allergy to strawberry.
- Positive pregnancy test
- Subject is judged by the Investigator or Medical Monitor to be inappropriate for the study
Data sourced from ClinicalTrials.gov (NCT05025241). Outcome figures and adverse-event rates are extracted automatically from the registry's posted results and are provided for clinician reference, not as a substitute for the primary publication.