Registry

GRI Registry

The GRI Registry was created to collect and organize GRI patient information.

Data from this registry will help researchers gain a better understanding of GRI Disorder, as well as contribute to the development of future treatments and/or cures.

Your participation makes a difference!

Welcome to the GRIN Portal

The GRIN Portal is an interactive website for families, clinicians and researchers dedicated to comprehend GRI-related disorders. Data collected from registries are consolidated into this portal.

GRI Patient Registry

North America, South America, and Australia

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 disorder. 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.

Our goal is to enroll at least 50 subjects in each group to begin to make generalizations about functional links between symptoms and disorders.

GRIN2B Foundation and CureGRIN Foundation fund the ongoing Registry and functional characterization of GRIN variants respectively.

In order to enroll, contact the study coordinator:

GRINresearch@cuanschutz.edu

GRI Patient Registry and Study

Europe, Asia, and Africa

The goal of this study is to establish a registry on GRIN-related disorders in order to better understand genotype-phenotype correlations. We hope this information will lead to improved patient care in the future.

The GRIN Registry and Study will investigate clinical and genetic findings of GRIN-related disorders and collect patient data in a local registry at the Institute of Human Genetics at the University of Leipzig.

After registering, you can start entering data, pause it at any time and continue later on by using a login and ID. You can enter data directly, and upload documents or reports (e.g. molecular genetic findings, electroencephalography, magnetic resonance imaging, clinical reports, etc.), which will be reviewed by a member of our team and transferred pseudonymously into the registry.

The study has been approved by the Ethics Committee of the University of Leipzig, Germany.
This online registry is a collaborative effort with our close collaborators Dr. Stephen Traynelis (Emory University, Atlanta), Dr. Tim Benke (University of Colorado) and CureGRIN.

Click here for Study Information

Enroll online here.