The goal of this clinical trial is to learn if MZ-1866 is a safe and tolerable treatment for children and adults with Pitt Hopkins Syndrome.
To evaluate the safety of MZ-1866, the following will be evaluated:
* frequency and severity of adverse events * physical exam, laboratory results and electrocardiogram findings
Participants will:
* receive a single dose of MZ-1866 by intracerebroventricular injection * be seen by the study physician and site staff periodically to assess changes to their health status * be periodically evaluated using neurodevelopmental tools
Caregivers will:
* be interviewed periodically about the health status and development of the participant * keep diaries and complete periodic questionnaires regarding participant symptoms
The participant has a TCF4 gene mutation confirmed as "pathogenic" or "likely pathogenic" by whole exome sequencing, whole genome sequencing, gene panel, single gene testing, or microarray, performed at an accredited laboratory
Clinical phenotype consistent with Pitt Hopkins Syndrome, in the opinion of the investigator
The participant, or the participant's parent or legal guardian, is willing to provide access to prior medical records for the collection of demographics and diagnostic and treatment history
A deletion that includes the TCF4 gene that is over 12 Mbp in size
Another genetic mutation or clinical comorbidity not associated with Pitt Hopkins Syndrome that could potentially confound interpretation of the study data
A central nervous system structural or vascular abnormality that is a contraindication to the ICV administration procedure, including but not limited to: signs or symptoms of increased intracranial pressure, history of a space-occupying lesion, or presence of a ventricular shunt that would preclude ICV procedures or safety assessments, or increase risk to the participant
Not able to receive prophylactic corticosteroids due to a medical contraindication or participant has a history of a condition that could worsen with corticosteroid therapy as assessed and determined by the Investigator
Mahzi Therapeutics
Lead sponsor
California Institute for Regenerative Medicine (CIRM)
Collaborator