Phase 1/2 Study of MZ-1866, an AAV-9 Gene Therapy Delivered by Intracerebroventricular Injection to Participants With Pitt Hopkins Syndrome
Purpose
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
Condition
- Pitt Hopkins Syndrome
Eligibility
- Eligible Ages
- Between 2 Years and 25 Years
- Eligible Sex
- All
- Accepts Healthy Volunteers
- No
Inclusion Criteria
- 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
Exclusion Criteria
- 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 - Not able to undergo MRI procedures - Cannot be anesthetized for the ICV injection
Study Design
- Phase
- Phase 1/Phase 2
- Study Type
- Interventional
- Allocation
- Non-Randomized
- Intervention Model
- Sequential Assignment
- Primary Purpose
- Treatment
- Masking
- None (Open Label)
Arm Groups
| Arm | Description | Assigned Intervention |
|---|---|---|
|
Experimental Cohort 1 (MZ-1866) |
Participants ages 12-25 years |
|
|
Experimental Cohort 2 (MZ-1866) |
Participants aged 2-11 years |
|
Recruiting Locations
Oakland 5378538, California 5332921 94609
Aurora 5412347, Colorado 5417618 80045
More Details
- Status
- Recruiting
- Sponsor
- Mahzi Therapeutics