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

Официальное название

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

Обзор

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

Вмешательства

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

Первичные конечные точки

• To evaluate the safety and tolerability of MZ-1866 in participants with Pitt Hopkins Syndrome [Срок оценки: Week 104]

Вторичные конечные точки (2)

• To evaluate the safety and tolerability of MZ-1866 in participants with Pitt Hopkins Syndrome [Срок оценки: Week 104]
• To further assess the safety and tolerability of MZ-1866 in participants with Pitt Hopkins Syndrome [Срок оценки: Week 104]

Критерии участия

Критерии включения

• 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

Критерии исключения

• 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

Критерии приведены из реестра в оригинале (на английском). Окончательную оценку соответствия проводит исследовательский центр.

Здоровые добровольцы: Нет

Дизайн исследования

Распределение

Нерандомизированное

Модель

Последовательный дизайн

Маскирование

Открытое

Основная цель

Лечение

Центры проведения

США · 3 центра

• UCSF Benioff Children's Hospital Oakland — Oakland
• Children's Hospital Colorado — Aurora
• Rush University Medical Center — Chicago

Израиль · 1 центр

• Sheba Medical Center — Tel Litwinsky

Идентификаторы

NCT: NCT07135050 · MZ1866-CL101

Первоисточники (государственные реестры)

• ClinicalTrials.gov (NIH, США)

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