GRIN2B Disorders are rare changes in the GRIN2B gene, some causing gain of function, some loss of function, and others unusual neurotransmissions, but all resulting in a variety, and a spectrum of neurological problems such as developmental delay, muscle weakness, epilepsy, and problems with movement and speech. There is still much to be learned about GRIN disorders with some believing that fewer than 200 individuals have been identified with these rare, and primarily de novo mutations. With the advent of better and less expensive genetic testing, more cases may be identified. There are currently three patient registries for those with mutations in the GRIN genes. Joining these registries is the very first step to getting ready for research which may help find treatments and cures.
GRIN2B Foundation Contact Registry: grin2b.com/register
GRIN Variant Registry: grin-portal.broadinstitute.org
Simons Searchlight GRIN2B Registry: www.simonssearchlight.org
The value of having a supportive community for families cannot be over-estimated. Patient advocacy groups such as GRIN2B Foundation are a very real help in trouble.
Grin Therapeutics is currently enrolling patients with “gain of function” mutations in GRIN2B gene is a clinical trial. In this trial all the enrolled children will receive a medication called radiprodil, and there will not be a placebo group. For many parents, struggling with a special needs child and perhaps having other children to care for as well, knowing that their child ill receive the medication can make the effort of participation worthwhile. We have provided the link to the trial site and a brief description below.
https://clinicaltrials.gov/study/NCT05818943
Brief Summary
Study RAD-GRIN-101 is a phase 1B trial to assess safety, tolerability, PK, and potential efficacy of radiprodil for the treatment of GRIN-related disorder in children with a Gain-of-Function (GoF) genetic variant. Subjects’ participation in the study is expected to last up to six months.
To see if your child pre-qualifies for the study got to this site: Honeycomb | Home (thehoneycombstudy.com)
https://clinicaltrials.gov/study/NCT05818943
The study is open-label, so all participants will be treated with radiprodil. After the end of this study, all participants who are still eligible can choose to continue to receive radiprodil as part of an open-label extension period.
It would be remiss to not mention also the work of Combined Brain – Combinedbrain.org that brings together the efforts of many groups with rare neurological disorders including GRIN disorders to conduct research together on biomarkers, and other basic science to help hasten the understanding of these conditions.
More information can be found at: Home – CureGRIN Foundation
