Thank you for your interest in participating in the IDDRC Cellular Models Program Registry
Through new medical technologies, we can non-invasively collect biomaterials from a patient and use these to re-create any cell in their body to analyze cellular changes seen in patients with specific genetic mutations. Specifically, for these studies we are looking at differences in the development and function of cells that contribute to disorders of the central nervous system.
We are currently recruiting patients with known or suspected mutations in PIK3CA, AKT3, or mTOR who are ages 4 and up and living in the US. In order to enroll in the study, you will be asked to complete a survey via the link below which gathers information on the patient’s genetic mutation and contact information for possible future follow up for collection of biomaterials.
To begin, please download and review a copy of the informed consent for the registry. Then click the link to proceed to the registry survey.
Download Informed Consent for Megalencephaly Neuronal Cellular Models Program-Phase 1