Terapia génica MZ-1866 para el síndrome de Pitt-Hopkins

Fecha de inicio: 1 de enero de 2026

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