CureGRIN Foundation
Cycle 1
GRI Disorders are rare single-gene disorders related to the GRIA, GRIK, GRID and GRIN genes. Many GRI patients are non-verbal, unable to walk, and many cannot feed or toilet themselves. They often experience severe and frequent seizures that are not responsive to medical therapies.
Last updated May 2024
Clinical
Disease Class
Rare genetic diseases
Rare neurological diseases
Body Systems
Digestive
Hematopoietic / Lymphatic / Immune
Muscular / Skeletal
Nervous / Sensory
Respiratory
Organs
Brain
Ears
Esophagus
Eyes
Intestines
Lungs
Muscles
Spinal cord
Stomach
Genes
GRIA1
GRIA2
GRIA3
GRIA4
GRID1
GRID2
GRIK2
GRIK5
GRIN1
GRIN2A
GRIN2B
GRIN2C
GRIN2D
GRIN3A
Type of Inheritance
Autosomal dominant
Autosomal recessive
De novo
X-linked dominant
Disease Mechanism(s)
Abnormal protein degradation
Glutamate pathway malfunction
Ion channel dysfunction
Pathogenic mutation
Protein misfolding
Age of Onset
Infancy (age 0-1)
Prebirth
Incidence
Unknown
Prevalence
1001-10000
Symptoms / Phenotypes
autism
autistic behavior
behavioral changes
breathing difficulties
constipation
feeding difficulties
hearing loss / hearing impairment
hypotonia
intellectual disability
movement disorders / ataxia / tremor
neurostorming
seizures / epilepsy
sleep disorders
speech problems / apraxia
vision problems
Biomarkers
None
Existing Therapies
Alternative treatments (eg. nutritional supplements)
· L-serine
Drugs approved for the symptoms
Drugs used off-label
· Memantine, Perampanel
Organizational & Research
Cell Lines
Fibroblasts
iPSCs
Cell Lines, location
COMBINEDBrain
Simons Foundation Autism Research Initiative (SFARI)
Cell Lines, share
Unknown
Disease Model
Mouse
Organoids
Zebrafish
Disease Model, location
Columbia University
Emory University
Institute for Basic Science
Institute of Physiology, CAS
Jackson Laboratories (JAX)
NIH
Tel Aviv University
University of Toronto
Zhejiang People's Hospital of Hangzhou
Disease Model, share
Unknown
Clinical Trial Role
Focus group
Meeting with regulators
Outcome measures, development
Recruitment and outreach, patients
Recruitment and outreach, trial sites/physicians
Study protocol design, review
Biobank
COMBINEDBrain
Simons Foundation Autism Research Initiative (SFARI)
Center of Excellence
Colorado Children's
ENCORE Erasmus MC Sofia Children's Hospital
Registry
Yes, we have collaborated on a registry
Data Collected, Registry
Clinical data
Electronic health records/electronic medical records
Genetic data
Imaging data
Longitudinal natural history data
Medication usage
Patient contact info
Patient-reported data
Data Entered by, Registry
Both
Platform, Registry
REDCap
Natural History Study
No, we do not have a natural history study, but we plan to create or collaborate on one
FDA Patient Listening Session
We have taken formal steps to schedule a meeting
FDA Patient-Focused Drug Development (PFDD) Program
We have taken formal steps to schedule a meeting
ICD Codes
We are working on obtaining an ICD-10 code
We are working on obtaining an ICD-11 code
Yes, we have an ICD-11 code specific to our exact disease
Diagnostic Guidelines
In the process of creating diagnostic guidelines
Clinical/Treatment Guidelines
In the process of creating clinical/treatment guidelines
Organizational Roles
Director of Operations/Director of Development
Executive Director
Patient Engagement Manager/Director
Research/Scientific Director
Science Advisory Board Policies
Yes, willing to share SAB policies
Research Network Policies
Has CRN but no policies
Research Roadmap
Yes we have a Research Roadmap, and will share policies
International Chapters
None
International Partners
Europe
North America
South America