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MZ-1866 Gene Therapy for Pitt Hopkins Syndrome

This study is testing a gene therapy called MZ-1866 for people with Pitt Hopkins Syndrome. Researchers want to find out if MZ-1866 is safe and well-tolerated. This treatment is given as a single injection into the fluid surrounding the brain (intracerebroventricular injection). The study is open to individuals aged 2 to 25 years who have a confirmed TCF4 gene mutation and symptoms consistent with Pitt Hopkins Syndrome. The main goal is to track any side effects and how well people tolerate the treatment over 104 weeks (about two years). The current recruitment status is unclear, and the study plans to enroll 12 participants.

Study design
This is an interventional study with a planned enrollment of 12 participants. It is a Phase 1/2 study, meaning it will assess both safety and early effectiveness.
What's involved
Participants will receive a single dose of MZ-1866 and will have periodic visits with study staff for health assessments and neurodevelopmental evaluations. Caregivers will also be interviewed and complete diaries and questionnaires.
Compensation
Not stated in the trial record.
Follow-up
Participants will be followed for 104 weeks (about two years) to evaluate the safety and tolerability of MZ-1866.

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NCT07135050

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

Recruiting
PHASE1Ages 2–25InterventionalTreatment
Mahzi Therapeutics
~12 participants
Updated 2026-07-31 on ClinicalTrials.gov
What's tested:MZ-1866

At a glance

Recruiting sites
4 of 4 listed sites are recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
To evaluate the safety and tolerability of MZ-1866 in participants with Pitt Hopkins Syndrome
Measured over Week 104

Conditions

Pitt Hopkins Syndrome

Explore related trials

Pitt-Hopkins SyndromeTranscription Factor 7-Like 2

Where it's being run

4 sites across 4 states
California1
Colorado1
Illinois1
Israel1

Who to contact

Emily Radomile
[email protected]
1-844-446-2494
Email the study team

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Do you actually qualify for this trial?

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Eligibility criteria

Inclusion

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

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

What this trial measures

  • To evaluate the safety and tolerability of MZ-1866 in participants with Pitt Hopkins SyndromeWeek 104

    Frequency and severity of adverse events of special interest