Recruiting soon

MZ-1866 Gene Therapy for Pitt Hopkins Syndrome

What is being tested

MZ-1866

Genetic

Who is being recruted

From 2 to 25 Years

+9 Eligibility Criteria

See all eligibility criteria

How is the trial designed

Treatment Study

Phase 1 & 2

Interventional

Study Start: January 2026

See protocol details

Summary

Principal SponsorMahzi Therapeutics

Study ContactEmily Radomile

Last updated: January 12, 2026

Sourced from a government-validated database.Claim as a partner

Study start date: January 1, 2026

Actual date on which the first participant was enrolled.

This clinical trial is focused on testing a new treatment called MZ-1866, specifically designed for children and adults diagnosed with Pitt Hopkins Syndrome. The main aim is to determine if this treatment is safe and well-tolerated. Pitt Hopkins Syndrome is a rare genetic disorder that affects development, and finding effective treatments is crucial for improving the quality of life for those affected. This study is important as it could potentially lead to a breakthrough treatment option, addressing a significant unmet need for individuals with this condition. In this study, participants will receive a single dose of MZ-1866 through an injection directly into the brain area, known as intracerebroventricular injection. Throughout the study, doctors will monitor participants' health through regular check-ups, lab tests, and heart examinations. The study will also assess any side effects and monitor changes in development and health using specialized tools. Caregivers will play a crucial role by providing information through interviews, keeping diaries, and filling out questionnaires about the participant's symptoms and development.

Official TitlePhase 1/2 First-in-Human Study to Evaluate the Safety, Tolerability, and Efficacy of MZ-1866, an AAV-9 Gene Therapy Delivered by Intracerebroventricular Injection to Participants With Pitt Hopkins Syndrome

NCT07135050

Principal SponsorMahzi Therapeutics

Study ContactEmily Radomile

Last updated: January 12, 2026

Sourced from a government-validated database.Claim as a partner

Protocol

This section provides details of the study plan, including how the study is designed and what the study is measuring.

Design Details

12 patients to be enrolled

Total number of participants that the clinical trial aims to recruit.

Treatment Study

These studies test new ways to treat a disease, condition, or health issue. The goal is to see if a new drug, therapy, or approach works better or has fewer side effects than existing options.

Eligibility

Researchers look for people who fit a certain description, called eligibility criteria: person's general health condition or prior treatments.

Criteria

Any sex

Biological sex of participants that are eligible to enroll.

From 2 to 25 Years

Range of ages for which participants are eligible to join.

Healthy volunteers not allowed

If individuals who are healthy and do not have the condition being studied can participate.

Criteria

3 inclusion criteria required to participate

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

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

Clinical phenotype consistent with Pitt Hopkins Syndrome, in the opinion of the investigator

6 exclusion criteria prevent from participating

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

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

Cannot be anesthetized for the ICV injection

Another genetic mutation or clinical comorbidity not associated with Pitt Hopkins Syndrome that could potentially confound interpretation of the study data

Show More Criteria

Study Plan

Find out more about all the medication administered in this study, their detailed description and what they involve.

Treatment Groups

Study Objectives

2 intervention groups are designated in this study

This study does not include a placebo group

Treatment Groups

Group I

Experimental

Participants ages 12-25 years

Group II

Experimental

Participants aged 2-11 years

Study Objectives

Primary Objectives

Secondary Objectives

Study Centers

These are the hospitals, clinics, or research facilities where the trial is being conducted. You can find the location closest to you and its status.

This study has 2 locations

Suspended

UCSF Benioff Children's Hospital Oakland

Oakland, United StatesSee the location

Suspended

Rush University Medical Center

Chicago, United States

Recruiting soon2 Study Centers