for people ages 3-17 (full criteria)
at San Francisco, California and other locations
study started
estimated completion



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) at weight-banded 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. Subjects with a Clinical Global Impression- Severity (CGI-S) score of 4 or greater at the Screening visit.
  4. Each subject must be able to swallow the study medication provided as a liquid solution.
  5. Caregiver(s) must have sufficient English language skills.

You CAN'T join if...

  1. Clinically significant abnormalities in safety laboratory tests at Screening.
  2. Abnormal QTcF interval or prolongation at Screening.
  3. Any other clinically significant finding (as determined by the Investigator) on ECG at the Screening visit.
  4. Excluded concomitant treatments.
  5. Actively undergoing regression or loss of skills.
  6. Unstable seizure profile.
  7. Current clinically significant cardiovascular, renal, hepatic, gastrointestinal, respiratory, endocrine disease, or clinically significant organ impairment. This is determined by the Investigator at Screening.
  8. 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.
  9. Has planned surgery during the study.
  10. . History of, or current, cerebrovascular disease or brain trauma.
  11. . History of, or current catatonia or catatonia-like symptoms.
  12. . History of, or current, malignancy.
  13. . Current major or persistent depressive disorder (including bipolar depression).
  14. . Significant, uncorrected visual or uncorrected hearing impairment.
  15. . Allergy to strawberry.


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


not yet accepting patients
Start Date
Completion Date
Neuren Pharmaceuticals Limited
Phase 2
Study Type
Last Updated