What is GRIN-related Disorder?

GRIN-related Disorder is a rare genetic condition affecting the GRIN gene that is considered to have arisen spontaneously (not inherited from a parent). There are several subtypes of GRIN gene where a mutation in one of the seven genes can cause GRIN-related Disorder. The most common symptoms associated with GRIN-related Disorder can include various degrees of intellectual disability, seizures, constipation, verbal difficulties, visual difficulties, and feeding difficulties. Every child affected by GRIN-related Disorder has unique characteristics and symptoms specific to them.

The average age for diagnosis of GRIN-related Disorder is before or around the age of two, typically after parents or caregivers notice children missing developmental milestone. Diagnosis of GRIN-related Disorder is confirmed by a genetic test known as genome sequencing. Once the diagnosis is confirmed, a treatment strategy is usually developed with the child’s physician and family.

The Honeycomb Study is studying investigational radiprodil in children who have GRIN-related Disorder. This study will only be recruiting patients with GRIN-related Disorder with a gain-of-function (GoF) variant in GRIN1, GRIN2A, GRIN2B or GRIN2D.

What kind of resources for patients and families are there?

One of the best resources for patients and their families outside of their medical team are support, community, and advocacy groups. Not one child or family’s journey with GRIN-related Disorder is the same, but many will share similar s, wins, and challenges. Joining a GRIN community or advocacy group can provide education, support, and resources that are invaluable to many patients and their families. Some advocacy groups are listed and can be explored below:

http://www.curegrin.org/
https://grin2b.com/
https://grin2b.eu/

Growth Through Research

The Honeycomb Study is dedicated to understanding more about GRIN-related Disorder and studying an investigational drug for seizures and behaviors associated with this genetic condition. By participating in clinical trials such as Honeycomb, your child and family is helping those affected by GRIN-related Disorder.

If you wish for your child to participate in the Honeycomb Study, the following criteria must be met:

  • Must have confirmed gain-of-function (GoF) variant in GRIN1, GRIN2A, GRIN2B, or GRIN2D
  • Must be between 6 months and 12 years of age
  • For patients with seizures:
    • at least 1 observable seizure per week and 4 or more observable seizures during a 4-week observation period
    • seizures did not improve after taking at least 2 anti-seizure medications
  • For patients without qualifying seizures:
    • significant behavioral symptoms

Other eligibility criteria apply. Study participants will receive study-related medical exams and active investigational radiprodil at no cost. If travel is required, a service will help arrange it for you and all reasonable related costs will be covered, to the extent allowable in your country. Children who enroll in this study will be asked to participate for approximately 5 months including both a screening period. During this time, they will be asked to visit the clinic site up to 9 times. Some in-clinic visits may be performed via telephone/home visits for certain patients. Patients may be eligible to for extended dosing in the study or they may enter a follow-up period.