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RecruitingPhase 1/Phase 2

Phase 1/2 Study of MZ-1866, an AAV-9 Gene Therapy Delivered by Intracerebroventricular Injection to Participants With Pitt Hopkins Syndrome

Mahzi Therapeutics · with California Institute for Regenerative Medicine (CIRM) · NCT07135050

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Key facts

Compensation
Not posted. Ask the study team before screening.
Who can join
Ages 2–25 · All sexes
Healthy volunteers
Not accepted (a condition is required)
Study type
Interventional · Phase 1, Phase 2
Target enrollment
12
US sites recruiting
3
Study start
December 19, 2025
Record last updated
July 31, 2026

Status re-checked against ClinicalTrials.gov within the last 12 hours.

What the study is about

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

Being studied: MZ-1866

Conditions: Pitt Hopkins Syndrome

Eligibility criteria

Copied from the official record. The study team makes the final decision at screening.

Show full criteria

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

Recruiting US locations

  • UCSF Benioff Children's Hospital Oakland

    Oakland, CA 94609

    Site contact: Neil Smith · neil.smith2@ucsf.edu

  • Children's Hospital Colorado

    Aurora, CO 80045

    Site contact: Sky Gould · sky.gould@childrenscolorado.org

  • Rush University Medical Center

    Chicago, IL 60612

    Site contact: Tara Khandelwal · Mehr_Khandelwal@rush.edu

Study contacts (from the official record)

  • Emily Radomile · 1-844-446-2494 · clinicaltrials@mahzi.com
All phase 1 studies in California →
Phase 1/2 Study of MZ-1866, an AAV-9 Gene Therapy Delivered by… (NCT07135050) | Bored Studies