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MZ-1866 Gene Therapy for Pitt Hopkins Syndrome

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What is being tested

MZ-1866

Genetic
Who is being recruted

Pitt Hopkins Syndrome

From 2 to 25 Years
+9 Eligibility Criteria

See all eligibility criteria

How is the trial designed

Treatment Study

Phase 1
Interventional
Study Start: January 2026

See protocol details

Summary

Principal SponsorMahzi Therapeutics
Study ContactEmily Radomile
Last updated: August 21, 2025
Sourced from a government-validated database.Claim as a partner
Study start date: January 1, 2026Actual 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 
Principal SponsorMahzi Therapeutics
Study ContactEmily Radomile
Last updated: August 21, 2025
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 enrolledTotal 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.

How participants are assigned to different groups/arms
In this clinical study, participants are assigned to groups based on specific criteria, such as their medical history or a doctor's recommendation. This approach ensures that treatments are given to those who may benefit the most, based on known factors.

Other Ways to Assign Participants
Randomized allocation: Participants are assigned randomly, like flipping a coin, to ensure fairness and reduce bias.
None (Single-arm trial): If the study has only one group, all participants receive the same treatment, and no allocation is needed.

How treatments are given to participants
Participants receive treatments one after another in a pre-planned sequence. The next treatment may depend on how the participant responds to the previous one.

Other Ways to Assign Treatments
Single-group assignment: Everyone gets the same treatment.
Parallel assignment: Participants are split into separate groups, each receiving a different treatment.
Cross-over assignment: Participants switch between treatments during the study.
Factorial assignment: Participants receive different combinations of treatments.
Other assignment: Treatment assignment does not follow a standard or predefined design.

How the effectiveness of the treatment is controlled
In a non placebo-controlled study, no participants receive an inert substance (placebo) to compare outcomes. Instead, all participants receive either the experimental treatment or an alternative treatment (often the Standard of Care). This method allows researchers to compare the effects of the experimental treatment with those of a different active intervention, rather than a placebo.

Other Options
Placebo-Controlled: A placebo is used to compare the effects of the experimental treatment with those of an inert substance, isolating the true treatment effect.

How the interventions assigned to participants is kept confidential
Everyone involved in the study knows which treatment is being given. This is typically used when it's not possible or necessary to hide the treatment details from participants or researchers.

Other Ways to Mask Information
Single-blind: Participants do not know which treatment they are receiving, but researchers do.
Double-blind: Neither participants nor researchers know which treatment is given.
Triple-blind: Participants, researchers, and outcome assessors do not know which treatment is given.
Quadruple-blind: Participants, researchers, outcome assessors, and care providers all do not know which treatment is given.

Eligibility

Researchers look for people who fit a certain description, called eligibility criteria: person's general health condition or prior treatments.
Conditions
Criteria
Any sexBiological sex of participants that are eligible to enroll.
From 2 to 25 YearsRange of ages for which participants are eligible to join.
Healthy volunteers not allowedIf individuals who are healthy and do not have the condition being studied can participate.
Conditions
Pathology
Pitt Hopkins Syndrome
Criteria
3 inclusion criteria required to participate
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
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
6 exclusion criteria prevent from participating
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
A deletion that includes the TCF4 gene that is over 12 Mbp in size
Not able to undergo MRI procedures

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

Frequency and severity of adverse events of special interest
Secondary Objectives

Frequency and severity of adverse events

Frequency of clinically significant physical examination findings, vital signs, laboratory tests and electrocardiograms that are considered outside normal range.

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 no location dataSave this study to your profile to know when the location data is available. 
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