Eligibility Module
The Eligibility Module contains detailed information about who can participate in the clinical trial. This includes eligibility criteria, age restrictions, gender requirements, healthy volunteer status, and study population descriptions, helping researchers understand who is eligible to participate in the study.
Eligibility Module path is as follows:
Study -> Protocol Section -> Eligibility Module
Eligibility Module
Ignite Creation Date:
2025-12-24 @ 4:50 PM
Ignite Modification Date:
2025-12-24 @ 4:50 PM
NCT ID:
NCT07135050
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
Healthy Volunteers:
False
Sex:
ALL
Minimum Age:
2 Years
Maximum Age:
25 Years
Study:
NCT07135050
Study Brief:
Protocol Section:
NCT07135050