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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

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

ArmDescriptionAssigned Intervention
Experimental
Cohort 1 (MZ-1866) 		Participants ages 12-25 years
  • Genetic: MZ-1866
    AAV-9 gene therapy delivered by intracerebroventricular injection
Experimental
Cohort 2 (MZ-1866) 		Participants aged 2-11 years
  • Genetic: MZ-1866
    AAV-9 gene therapy delivered by intracerebroventricular injection

Recruiting Locations

UCSF Benioff Children's Hospital Oakland
Oakland 5378538, California 5332921 94609
Contact:
Matt Thura
matt.thura@ucsf.edu

Children's Hospital Colorado
Aurora 5412347, Colorado 5417618 80045
Contact:
Sky Gould
750-777-1583
sky.gould@childrenscolorado.org

More Details

Status
Recruiting
Sponsor
Mahzi Therapeutics

Study Contact

Emily Radomile
1-844-446-2494
clinicaltrials@mahzi.com

Notice

Study information shown on this site is derived from ClinicalTrials.gov (a public registry operated by the National Institutes of Health). The listing of studies provided is not certain to be all studies for which you might be eligible. Furthermore, study eligibility requirements can be difficult to understand and may change over time, so it is wise to speak with your medical care provider and individual research study teams when making decisions related to participation.