Actively Recruiting

Phase 1
Phase 2
Age: 2Years - 25Years
All Genders
NCT07135050

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

Led by Mahzi Therapeutics · Updated on 2026-05-11

12

Participants Needed

4

Research Sites

184 weeks

Total Duration

On this page

Sponsors

M

Mahzi Therapeutics

Lead Sponsor

C

California Institute for Regenerative Medicine (CIRM)

Collaborating Sponsor

AI-Summary

What this Trial 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

CONDITIONS

Official Title

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

Who Can Participate

Age: 2Years - 25Years
All Genders

Eligibility Criteria

Eligible

You may qualify if you...

  • 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
Not Eligible

You will not qualify if you...

  • 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

AI-Screening

AI-Powered Screening

Complete this quick 3-step screening to check your eligibility

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Trial Site Locations

Total: 4 locations

1

UCSF Benioff Children's Hospital Oakland

Oakland, California, United States, 94609

Actively Recruiting

2

Children's Hospital Colorado

Aurora, Colorado, United States, 80045

Actively Recruiting

3

Rush University Medical Center

Chicago, Illinois, United States, 60612

Not Yet Recruiting

4

Sheba Medical Center

Tel Litwinsky, Israel

Actively Recruiting

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Research Team

E

Emily Radomile

CONTACT

How is the study designed?

Study Type

INTERVENTIONAL

Masking

NONE

Allocation

NON_RANDOMIZED

Model

SEQUENTIAL

Primary Purpose

TREATMENT

Number of Arms

2

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