Phase 2
N=28
An Open-Label Study of Oral NNZ-2591 in Pitt Hopkins Syndrome (PTHS-001)
Pitt Hopkins Syndrome
Bottom Line
View on ClinicalTrials.gov: NCT05025332 ↗Enrolled (actual)
28
Serious AEs
0.0%
Results posted
May 2025
Primary outcome: Primary: Safety and Tolerability — 15; 0; 4; 12 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
- Feb 2024
Outcome Measures
| Outcome | Result | p-value |
|---|---|---|
| PRIMARY Safety and Tolerability |
15; 0; 4; 12; 3; 0 | — |
| PRIMARY Pharmacokinetic - Mean AUC24 |
305 | — |
| PRIMARY Pharmacokinetic - t1/2 |
7.17 | — |
| SECONDARY Pitt Hopkins Syndrome-specific Clinical Global Impression Scale (CGI-I) - Overall Improvement |
2.6 | .0039 sig |
| SECONDARY Caregiver Impression of Improvement: Overall Score |
3.0 | 0.0234 sig |
| SECONDARY Pitt Hopkins Syndrome-specific Clinical Global Impression Scale - Severity (CGI-S) - Overall Score |
-0.5 | 0.0313 sig |
| SECONDARY Caregiver Top 3 Concerns |
-1.606 | 0.0039 sig |
| SECONDARY MacArthur-Bates Communicative Development Inventory (MB-CDI) |
15.9 | 0.1934 |
| SECONDARY Observer-Reported Communication Ability (ORCA) |
1.97 | 0.7480 |
| SECONDARY Aberrant Behavior Checklist-2 (ABC-2) |
-4.8 | 0.3203 |
| SECONDARY CSHQ |
0.4 | 0.3574 |
| SECONDARY GIHQ |
-6.3 | 0.4131 |
| SECONDARY Vineland Adaptive Behavior Scales-3, Interview Version |
0.0 | 0.9063 |
| SECONDARY Modified Two-minute Walk Test |
8.704 | 1.00 |
| SECONDARY QI-Disability |
-1.672 | 0.7002 |
| SECONDARY ICND |
0.5 | 0.3750 |
| SECONDARY Behavior Problems Inventory - Short Form |
3.2 | 0.7695 |
| SECONDARY Bayley Scales of Infant Development (BSID-4): Non Verbal Development Quotient (NVDQ) |
0.444 | 0.2402 |
Summary
A study of the safety, tolerability and pharmacokinetics of NNZ-2591 and measures of efficacy in children and adolescents with Pitt Hopkins Syndrome.
Eligibility Criteria
Inclusion Criteria
- Clinical diagnosis of PTHS with a documented disease-causing genetic etiology for the disorder.
- Males or females aged 3-17 years.
- Body weight of 12kg 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, 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 (NCT05025332). 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.