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Recruiting NCT07135050

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

Phase I / Phase II Interventional Pitt Hopkins Syndrome

For patients and families

In plain language

An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.

What is being studied
The protocol lists: MZ-1866.
Who it may be relevant to
Registry conditions: Pitt Hopkins Syndrome. Basic parameters: 2 years — 25 years · All.
What needs checking
Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
Where it takes place
United States, Israel
Next step
Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →

Unsure about the terms? Read our patient guide →

Official title

Phase 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

Overview

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

Interventions

  • Genetic MZ-1866
    AAV-9 gene therapy delivered by intracerebroventricular injection

Primary outcome measures

  • To evaluate the safety and tolerability of MZ-1866 in participants with Pitt Hopkins Syndrome [Time frame: Week 104]
Secondary outcome measures (2)
  • To evaluate the safety and tolerability of MZ-1866 in participants with Pitt Hopkins Syndrome [Time frame: Week 104]
  • To further assess the safety and tolerability of MZ-1866 in participants with Pitt Hopkins Syndrome [Time frame: Week 104]

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

Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.

Healthy volunteers: No

Study design

Allocation
Non-randomized
Model
Sequential
Masking
Open label
Primary purpose
Treatment

Study locations

United States · 3 centers
  • UCSF Benioff Children's Hospital Oakland — Oakland
  • Children's Hospital Colorado — Aurora
  • Rush University Medical Center — Chicago
Israel · 1 center
  • Sheba Medical Center — Tel Litwinsky

Identifiers

NCT: NCT07135050 · MZ1866-CL101

Primary sources (government registries)

View this study on ClinicalTrials.gov ↗