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The GRIN Variant Patient Registry (GVPR) was created to link functional analyses of GRIN variants obtained through the Center for Functional Evaluation of Rare Variants (CFERV) with
standardized patient/family reported clinical information. The main goal of this registry to create a platform that will facilitate determining better treatments and cures for GRIN disorders. Initially, we are using the registry to create a database of clinical features, medication usage, and assessments (MRI and EEG results) associated with GRIN variants. Features include epilepsy, developmental delay, movement disorders, and vision impairment. The next step is to link clinical information with
functional information from laboratory experiments. By linking clinical and functional information, we hope to inform future clinical trials that incorporate treatments specific to GRIN functional changes. The current registry will inform the selection of data collection instruments to be used to shift the registry from its current retrospective data collection to a prospective natural history study that includes both parent and clinician reported information. Natural history data is crucial to
determining the effectiveness of future interventions; we need to know if particular symptoms worsen or improve on their own over time to understand if interventions were actually helping or not. In order to enroll, families contact the study coordinator (Jenifer.Sargent@childrenscolorado.org). Families then send a copy of their genetic report for review to determine if the variant appears to be pathogenic. After passing review, the families then sign and review a consent form. The study coordinator will then email The GRIN Questionnaire (TGQ) to be completed by the family; clinicians who know the family can help complete TGQ. The family can ask the study coordinator to engage
one of the Study Doctors (Benke, Marsh, or Poduri) to assist the family to complete TGQ. The family then emails TGQ to the study coordinator. TGQ information is entered into a secure RedCAP database. If there are new medications or other health updates, the family can fill in and return an updated TGQ. Every effort is performed to ensure data security and privacy. To date, we have enrolled families whose children have variants in GRIN1 (23), GRIN2A (8), GRIN2B (14), and GRIN2D (1). Our goal is to enroll at least 50 subjects in each group to begin to make generalizations about functional links between symptoms and disorders. Our goal is to provide an opportunity for all interested families to enroll, with an estimated total of 500.