Phelan-McDermid Syndrome Clinical Trial
— PMS-001Official title:
An Open-Label Study of the Safety, Tolerability, and Pharmacokinetics of Oral NNZ-2591 in Phelan-McDermid Syndrome (PMS-001)
Verified date | August 2023 |
Source | Neuren Pharmaceuticals Limited |
Contact | n/a |
Is FDA regulated | No |
Health authority | |
Study type | Interventional |
A study of the safety, tolerability and pharmacokinetics of NNZ-2591 and measures of efficacy in children and adolescents with Phelan-McDermid Syndrome.
Status | Active, not recruiting |
Enrollment | 20 |
Est. completion date | December 31, 2023 |
Est. primary completion date | December 31, 2023 |
Accepts healthy volunteers | No |
Gender | All |
Age group | 3 Years to 12 Years |
Eligibility | Inclusion Criteria: 1. Clinical diagnosis of PMS with a documented disease-causing genetic abnormality of SHANK3. 2. Males or females aged 3-12 years. 3. Body weight of 12 kg or higher at Screening. 4. Subjects with a Clinical Global Impression - Severity (CGI-S) score of 4 or greater at the Screening visit. 5. 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 6. Each subject must be able to swallow the study medication provided as a liquid solution. 7. Caregiver(s) must have sufficient English language skills. Exclusion Criteria: 1. Body weight < 12kg at screening 2. Clinically significant abnormalities in safety laboratory tests and vital signs at Screening. 3. Abnormal QTcF interval or prolongation at Screening. 4. Any other clinically significant finding on ECG at the Screening visit. 5. Positive for severe acute respiratory syndrome coronavirus 2 (SARSCoV- 2) and previous COVID 19 infection with last 12 months that required hospitalization 6. Unstable or changes Psychotropic treatment 2 weeks prior to screening . 7. Excluded concomitant treatments. 8. Actively undergoing regression or loss of skills. 9. Unstable seizure profile. 10. Current clinically significant renal conditions and abnormalities 11. Current clinically significant cardiovascular, renal, hepatic, gastrointestinal, respiratory, endocrine disease, or clinically significant organ impairment. 12. 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. 13. Has planned surgery during the study. 14. History of, or current, cerebrovascular disease or brain trauma. 15. History of, or current catatonia or catatonia-like symptoms. 16. History of, or current, malignancy. 17. Current major or persistent depressive disorder (including bipolar depression). 18. Significant, uncorrected visual or uncorrected hearing impairment. 19. Allergy to strawberry. 20. Positive pregnancy test 21. Subject is judged by the Investigator or Medical Monitor to be inappropriate for the study |
Country | Name | City | State |
---|---|---|---|
United States | Boston Children's Hospital | Boston | Massachusetts |
United States | Massachusetts General Hospital | Boston | Massachusetts |
United States | Rush University Medical Center | Chicago | Illinois |
United States | Texas Children's Hospital | Houston | Texas |
Lead Sponsor | Collaborator |
---|---|
Neuren Pharmaceuticals Limited |
United States,
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Primary | Safety and Tolerability | To examine the incidence, severity and frequency of adverse events (AEs), including serious adverse events (SAEs) during treatment with NNZ-2591. | 13 weeks | |
Primary | Pharmacokinetic - Measurement of Cmax | Maximum observed concentration (Cmax) of NNZ-2591 | 13 weeks | |
Primary | Pharmacokinetic - Measurement of AUC | Area under the concentration-time curve of NNZ-2591 | 13 weeks | |
Primary | Pharmacokinetic - Measurement of time to Cmax | Time to Cmax of NNZ-2591 | 13 weeks | |
Primary | Pharmacokinetic - Measurement of t1/2 | Apparent terminal elimination half-life of NNZ-2591 | 13 weeks | |
Secondary | Exploratory efficacy measurement | Assessed by Phelan-McDermid syndrome-specific Clinical Global Impression Scale-Overall Improvement (CGI-I) | 13 weeks | |
Secondary | Exploratory efficacy measurement | Assessed by Caregiver Impression of Improvement | 13 weeks | |
Secondary | Exploratory efficacy measurement | Assessed by Phelan-McDermid syndrome-specific Clinical Global Impression Scales-Domain Improvement | 13 weeks | |
Secondary | Exploratory efficacy measurement | Assessed by Phelan-McDermid syndrome-specific Clinical Global Impression Scale-Severity (CGI-S)-Overall and Domain | 13 weeks | |
Secondary | Exploratory efficacy measurement | Assessed by Caregiver Top 3 Concerns Likert Scale | 13 weeks | |
Secondary | Exploratory efficacy measurement | Assessed by MacArthur-Bates Communicative Development Inventory (MB-CDI) | 13 weeks | |
Secondary | Exploratory efficacy measurement | Assessed by Observer-Reported Communication Ability (ORCA) | 13 weeks | |
Secondary | Exploratory efficacy measurement | Assessed by Aberrant Behavior Checklist-2 (ABC-2) | 13 weeks | |
Secondary | Exploratory efficacy measurement | Assessed by Child Sleep Habits Questionnaire (CSHQ) | 13 weeks | |
Secondary | Exploratory efficacy measurement | Assessed by Gastrointestinal Health Questionnaire (GIHQ) | 13 weeks | |
Secondary | Exploratory efficacy measurement | Assessed by Vineland Adaptive Behavior Scales-3, Interview version | 13 weeks | |
Secondary | Exploratory efficacy measurement | Caregiver Diaries | 13 weeks | |
Secondary | Exploratory efficacy measurement | Assessed by Quality of Life Inventory-Disability (QI-Disability) | 13 weeks | |
Secondary | Exploratory efficacy measurement | Assessed by Impact of Childhood Neurological Disability (ICND)-Overall quality of life rating | 13 weeks |
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