GRIN1-Related Neurodevelopmental Disorder (GRIN1-NDD)

What is GRIN1-Related Neurodevelopmental Disorder (GRIN1-NDD)?
GRIN1-NDD is characterized by mild-to-profound developmental delay and intellectual disability. Other common features are epilepsy, movement disorders and feeding difficulties. More information about GRIN1-NDD may be found on the NIH’s website: https://www.ncbi.nlm.nih.gov/books/NBK542807/

What is the prevalence of GRIN1-NDD?
To date, 72 individuals with GRIN1-NDD have been reported.

How is GRIN1-NDD diagnosed?
GRIN1-NDD is diagnosed via genetic testing. Individuals will have a mutation or variation on the GRIN1 gene.

Is there any specific gene/pathway in GRIN1-NDD that has been identified?
GRIN1-NDD is defined by differences in the GRIN1 gene.

How is GRIN1-NDD treated?
There is no specific treatment for GRIN1-NDD. Treatment is focused on the comfort of the patient. More information on treatment may be found here: https://rarediseases.org/gard-rare-disease/grin1-associated-disorders/

Are there any clinical trials underway for GRIN1-NDD?
The National Institutes of Health (NIH) has completed 0 clinical trials for GRIN1-NDD. Currently, there is 1 clinical trial underway for the condition. More information on future studies and patient recruitment can be found here: https://clinicaltrials.gov/ct2/results?cond=GRIN1&term=&cntry=&state=&city=&dist=

How can RareShare be helpful to GRIN1-NDD patients and families?
The GRIN1-NDD community has 0 members. There are currently 0 active discussions underway. New discussions can help to connect patients, health workers, caregivers and families interested in GRIN1-NDD and provide them continual access to community resources.