NCT07135050 Phase 1/2 Study of MZ-1866, an AAV-9 Gene Therapy Delivered by Intracerebroventricular Injection to Participants With Pitt Hopkins Syndrome
| NCT ID | NCT07135050 |
| Status | Recruiting |
| Phase | Phase 1, Phase 2 |
| Sponsor | Mahzi Therapeutics |
| Condition | Pitt Hopkins Syndrome |
| Study Type | INTERVENTIONAL |
| Enrollment | 12 participants |
| Start Date | 2025-12-19 |
| Primary Completion | 2029-03 |
Eligibility & Interventions
Eligibility Fast-Check
Enter your details for a quick preliminary check. This does not replace medical advice.
What to Expect as a Participant
You will actively receive the study intervention — which may be a drug, biologic, device, or procedure.
Phase 1 is the earliest stage of human testing — safety and dosage are the primary focus. Visits are frequent and medical supervision is intensive. You will be among the first people to receive this treatment.
This trial targets 12 participants in total. It began in 2025-12-19 with a primary completion date of 2029-03.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
Brief Summary
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
Eligibility 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
Contact & Investigator
Frequently Asked Questions
Who can join the NCT07135050 clinical trial?
This trial is open to participants of all sexes, aged 2 Years or older, up to 25 Years, studying Pitt Hopkins Syndrome. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
What phase is the NCT07135050 trial and what does that mean for participants?
Phase 1 trials are the first stage of human testing. The primary goal is to assess safety and determine appropriate dosage levels. Participants are closely monitored. These trials typically involve a small number of volunteers.
Is NCT07135050 currently recruiting?
Yes, NCT07135050 is actively recruiting participants. Contact the research team at clinicaltrials@mahzi.com for enrollment information.
Where is the NCT07135050 trial being conducted?
This trial is being conducted at Oakland, United States, Aurora, United States, Chicago, United States, Tel HaShomer, Israel.
Who is sponsoring the NCT07135050 clinical trial?
NCT07135050 is sponsored by Mahzi Therapeutics. The trial plans to enroll 12 participants.