for people ages 3-17 (full criteria)
study started
completion around



A study of the safety, tolerability and pharmacokinetics of NNZ-2591 and measures of efficacy in children and adolescents with Pitt Hopkins Syndrome.

Official Title

An Open-Label Study of the Safety, Tolerability, and Pharmacokinetics of Oral NNZ-2591 in Pitt Hopkins Syndrome (PTHS-001)


The primary purpose of this study is to investigate the safety, tolerability and pharmacokinetics of treatment with NNZ-2591 oral solution in children and adolescents with Pitt Hopkins Syndrome. The secondary purpose is to investigate measures of efficacy. Subjects will receive treatment with NNZ-2591 oral solution (50 mg/mL) doses for a total of 13 weeks.


Pitt Hopkins Syndrome, Hyperventilation, Intellectual Disability, Syndrome, Facies, NNZ-2591


You can join if…

Open to people ages 3-17

  1. Clinical diagnosis of PTHS with a documented disease-causing genetic etiology for the disorder.
  2. Males or females aged 3-17 years.
  3. Body weight of 12kg 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.

You CAN'T join if...

  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, 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



  • University of California at San Francisco accepting new patients
    San Francisco California 94143 United States
  • Children's Hospital Colorado accepting new patients
    Aurora Colorado 80045 United States


accepting new patients
Start Date
Completion Date
Neuren Pharmaceuticals Limited
Phase 2 Pitt-Hopkins Syndrome Research Study
Study Type
Expecting 20 study participants
Last Updated