CureGRIN Foundation

Cycle 1

Web:

Contact:

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 04/30/2026

Clinical

Disease Class

Neurological diseases

Body Systems

Digestive

Hematopoietic / Lymphatic / Immune

Muscular / Skeletal

Nervous / Sensory

Respiratory

Organs

Brain

Ears

Esophagus

Eyes

Intestines

Lungs

Muscles

Spinal cord

Stomach

Known Genetic Link

Yes, one or more genes directly cause the condition

Causative Genes

GRIA1

GRIA2

GRIA3

GRIA4

GRID1

GRID2

GRIK2

GRIK5

GRIN1

GRIN2A

GRIN2B

GRIN2C

GRIN2D

GRIN3A

Contributory Genes

None specified / unknown

Type of Inheritance

Autosomal dominant

Autosomal recessive

De novo

X-linked dominant

Newborn Screening

Disease Mechanism(s)

Glutamate pathway malfunction

Ion channel dysfunction

Age of Onset

Early childhood (age 1+-5)

Infancy (age 0-1)

Prebirth

Average Age at Diagnosis

Adolescence (12-17)

Early childhood (age 1+-5)

Infancy (age 0-1)

Middle childhood (6-11)

Life Expectancy

Adolescence (12-17)

Adulthood (age 18-64)

Early childhood (age 1+-5)

Elderly (age 65+)

Infancy (age 0-1)

Middle childhood (6-11)

Pre-Birth

Affected Sex(es)

Female

Male

National Prevalence

1001-10000

Global Prevalence

10000+

National Incidence

11-50

Global Incidence

11-50

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

Complementary and Alternative treatments

· L-serine

Off-Label Drug Use

Regulatory Agency-Approved for Symptom Relief

· Multiple anti-seizure medications for epilepsy. Gabapentin, Clonidine, Propranolol for movement disorders & dysautonomia. Multiple drugs for sleep and GI symptoms.

Therapies in Development

Antisense oligonucleotide (ASO) therapy

Gene therapy

· 6+ labs doing pre-clinical work on replacement or Prime Editing for GRIN1, GRIN2A, GRIN2B and GRIA2

RNA interference (RNAi) therapy (siRNA, etc.)

· Preclinical work for GRIK2

Repurposed drug

Small molecule therapy (novel small molecule drugs)

· Radiprodil for Gain of Function GRIN Disorders (in Phase 3 clinical trial)

Therapeutic Development Stages

In clinical trials (Phase I, II, III, or IV)

In preclinical development

In research/exploratory phase

Therapeutic Development Role

Access to registry or natural history study

Data sharing

Focus group participation or coordination

Funding

Recruitment and outreach to patients

Recruitment and outreach to trial sites / physicians

Study protocol design and/or review (includes selection of outcome measures)

Organizational & Research

Cell Lines

iPSCs

LCLs

Plasma

Cell Lines, Institution

COMBINEDBrain

Simons Foundation Autism Research Initiative (SFARI)

Cell Lines, Involvement

Consulted

Funded

Own

Cell Lines, share

Some of our cell lines are freely available

Disease Model

Mouse

Zebrafish

Disease Model, Involvement

Consulted

Disease Model, share

Unsure

Organizational Challenges

Overcoming physician / institutional barriers for N=1 trials

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

Clinical Trial Types

Phase 1

Phase 3

Biobank, Institution

Simons Foundation Autism Research Initiative (SFARI)

Van Andel Institute

Biobank, Involvement

Consulted

Funded

Center of Excellence, Institution

Colorado Children's

ENCORE Erasmus MC Sofia Children's Hospital

Center of Excellence, Involvement

Consulted

Registry

Yes, we have collaborated on a registry

Data Collected, Registry

Genetic data

Medication usage

Other

Patient contact info

Patient-reported data

Data Entered by, Registry

Patients

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

ICD Codes

We are working on obtaining an ICD-11 code

Yes, we have an ICD-10 code specific to our exact disease

Diagnostic Guidelines

Science Advisory Board Policies

Yes, willing to share SAB policies

Research Network Policies

Does not have a CRN

Patient Priority Survey

Yes

Patient Priority Survey, share

Yes, will share

Research Roadmap

Yes we have a Research Roadmap, and will share policies

North America

Europe

Middle East

North America

Oceania

South America

None