Research

Our research page is dedicated to providing the latest and most comprehensive information on GRI gene disorders. ​

At GRI-UK, we are dedicated to supporting researchers who are working tirelessly to find cures and treatments for GRI-related disorders. Our goal is to maximize every opportunity available in the UK to advance research and deliver tangible benefits to our families. Here’s how we’re making a difference.

While fundraising is a critical component of our efforts, GRI-UK offers much more. As a patient-led organization, we bring unique insights and capabilities to the research community:

Identifying Research Gaps

We work closely with researchers to identify and address gaps in current research pathways, ensuring that crucial areas receive the attention they need.

Enhancing Patient Benefit

Our priority is to deliver better outcomes for patients. By collaborating with researchers, we help translate findings into practical benefits for those affected by GRI disorders.

Promoting Data Registries

We support the promotion of GRI patient data registries, which are vital for understanding the natural history of these disorders and for facilitating research.

Accelerating Clinical Trials

We assist in accelerating clinical trials and studies that meet our criteria, helping to bring new treatments to patients faster.
We also understand how precious our GRI people are, and how limited our time can be. So we want to make sure we are confident we are giving you the right information on research, treatments and clinical trials to help you understand what’s going on, what’s involved, so you can make informed choices.

How you can get involved

We invite you to join us in supporting research efforts. Here’s how you can contribute:

Participate in Research: 

If you or a family member is affected by a GRI disorder, consider participating in research studies or clinical trials.

Share Your Data:

Contributing to patient registries can provide valuable data that researchers need to advance their studies.

Fundraising and Awareness:

Help us raise funds and awareness for GRI research. Every contribution, no matter how small, makes a difference.

Our recommendations

The GRI(N) Patient Registry

What is it?
The GRI(N) Patient Registry is a crucial resource designed to collect, manage, and utilize health information from individuals affected by GRI-related disorders. An important initiative between the University of Leipzig in Germany and the Centre Functional Evaluation of Rare Diseases in Emory University, USA. Developed to investigate clinical and genetic findings on GRI related variants to play a vital role in advancing research, improving patient care, and accelerating the development of treatments.
Why is it relevant to the GRI community?
It is the only registry dedicated to gathering information on GRI related variants. It covers all areas of the world, providing vital information to potential collaborators on GRI related initiatives.
Who is eligible?
Anyone with a GRI related gene variant.
What will I need to do and how long will it take?
You will need to email to register, and will need your GRI variant (Can be found on your genetic report) to complete the form. You will then receive an ID and login which allows you to access and complete the questionnaire. It will take about an evening (or two, depending on how much you write), but the login allows you to start it and return to it at a later time.
Do I need to go anywhere?

No. It is done online from your home. 

What data is collected, and for what purpose?
The questionnaire covers symptoms and characteristics of the person with GRI. You can also upload documents or reports (e.g. molecular genetic findings, electroencephalography, magnetic resonance imaging, clinical reports, etc.), which are reviewed by the team and transferred anonymously into the registry. Data is anonymized and shared with researchers.
Do I get anything for participating?
No. By participating in the registry, patients and families contribute to a global effort to better understand GRI disorders, which can ultimately lead to the development of effective treatments and cures.

Find out more study information here  

Download more information about the study

Register for the GRI(N) study

UK participants should sign up via the University of Leipzig
Register into GRI registry

The GRI Global Census

What is it?
The GRI Census has been designed to collect information about GRI patients to better understand the natural history of GRI-Related Disorders and gain more insight into the symptoms, generating a database of information that can be shared with the GRI Community, to help advance the search for treatments and cures for GRI disorders.
Why is it relevant to the GRI community?
  • Each child or adult with a GRI gene and their individual variant will be counted. Bigger recorded populations and variants with known human populations could boost grants and interest from researchers and biotech, and be more likely to be studied.
  • Locations will be counted. Clinical trials are more likely to take place in countries and regions with existing patient populations.
  • Symptoms will be counted. The most common symptoms should be prioritised for treatment.
  • Caregiver priorities will be counted. The treatment priorities that matter most to patient families should be prioritised for treatment.
Who is eligible?
All parents and caregivers of an individual with a confirmed diagnosis of a GRI Disorder (GRIN1, GRIN2A, GRIN2B, GRIN2D, GRIN3A, GRIA1, GRIA2, GRIA3, GRIA4, GRIK2, GRIK5, GRID1, GRID2).
What will I need to do and how long will it take?
The survey is online. CureGRIN estimates it takes 15 minutes. As parents at GRI-UK, our experience is that it can take longer depending on how much information you can or want to include. It can take longer if for instance your child has a complex medical history that you want to expand upon.
Do I need to go anywhere?

No. It is done online from your home. 

What data is collected, and for what purpose?

The survey collects information on basic demographics, medical history, genetic report, past and current medications and their effectiveness. Contact information including for your child’s clinicians and for patients over 18, documentation to confirm the legally authorised representation of adult participants.

 

All data collected will be stored on a Health Insurance Portability and Assurance Act (HIPAA), General Data Protection Regulation (GDPR)-compliant platform and will only be shared outside the study team in a de-identified/ pseudonymized manner – which minimises the likelihood of being able to determine participant identity.

Do I get anything for participating?
No. By participating in the registry, patients and families contribute to a global effort to better understand GRI disorders, which can ultimately lead to the development of effective treatments and cures.

Find out more study information here  

You can participate in the census online at CureGRIN website (GRI census) section. The surveys are available in a variety of languages such as English, Spanish, German, Chinese, Dutch, Italian and Portuguese.

What else is happening?

Simons Searchlight is an international study of people who have rare genetic disorders. It gathers information to learn about how these genes cause different neurodevelopmental disorders.
It researches across genetic variants, currently including GRIA1, GRIA2, GRIA3, GRIK2, GRIN1, GRIN2A, GRIN2B, GRIN2D variants. The more people who participate, the more likely they are to help researchers make discoveries that improve the lives of those who have these conditions. People with a unique gene variant are especially encouraged to participate, to widen the range of variants in the study.
Anyone in the world with a variant in the above GRI genes.
  1. Sign up online
  2. Provide your genetic lab report
  3. Share your medical history
  4. Fill out surveys.
  5. Update Simons Searchlight every year and continue your participation.

You will need to register and complete a questionnaire on the symptoms and characteristics of the person with GRI. You will need to know their specific variant to complete it.

It is mostly done online from your home.
It collects basic information about you and your family, and genetic information from genetic lab reports that you upload when you register. They also collect medical history information on behaviour, communication, motor skills, and more through surveys assigned on your dashboard.
Yes, you can get amazon vouchers for participating.
Find out more
GENROC Logo
GenROC Study is a research project in neurodevelopmental genetic conditions led by the University of Bristol. The study hopes to improve our understanding of how rare genetic syndromes affect the way children grow, their physical health and their development. They also hope to work with parents to understand new ways we can work together to improve our knowledge.
It is based in the UK, and we want to grow engagement in GRI disorders in the UK. The more people who participate, the more likely they are to help researchers make discoveries that improve the lives of those who have these conditions.
Children older than 6 months and younger than 16 years who live in the UK, have developmental delay and/or learning difficulties and/or autism, and a confirmed genetic diagnosis of GRIK2, GRIN1, GRIN2A or GRIN 2B. Unfortunately children cannot be included in the study if they: Have more than one genetic change; Were diagnosed through the Deciphering Developmental Delay (DDD) study (because separate work is being done with the DDD study to include patients identified through this); Have a genetic variant that has been described as uncertain (VUS), or if their genetic change includes more than one gene (such as in a chromosome microdeletion or microduplication).

First the study needs your consent, at this time you can have a call with the team to find out more information if you wish. Secondly you will complete some questions online about your child, and the study will contact your child’s geneticist and ask them for medical information about your child as well.

No. It is done online from your home.
Information about your child, medical information etc. There is the option to engage in further questions about how families find out information about their condition and the study can also use your child’s NHS number to link to national datasets such as health and education (or in a combined data linkage consortium).
No
Find out more

CUREGRIN

CureGRI

The CureGRIN Foundation has done brilliant work in the last 5 years to understand and build the research landscape around GRI variants.

Check out their webpage on research to learn more about what is going on around the world in GRI research.

Find out more

 

If you want more information on specific research papers available CureGRIN have produced a handy research audit.

Clinical trials

Honeycomb Study

honeycombstudy-logo

The purpose of the Honeycomb study is to test whether investigational Radiprodil is safe and tolerable in children with GRIN-related Disorder. Radiprodil is a drug designed specifically to decrease the overactive signals being sent out by NMDA receptors caused by gain-of-function (GoF) variants.
Why is it relevant to the GRI community? It is a treatment developed specifically for GRIN related disorders.

It is a treatment developed specifically for GRIN related disorders.

Children must have a confirmed gain-of-function (GoF) variant in GRIN1, GRIN2A, GRIN2B, or GRIN2D. Must be between 6 months and 12 years of age. They must have either significant behavioural symptoms or seizures (at least 1 observable seizure per week and 4 or more observable seizures during a 4-week observation period, or seizures did not improve after taking at least 2 anti-seizure medications). Parents must have the time to fill in detailed monitoring information over an extended period of weeks. Other eligibility criteria may apply. 

 

The reason the study is limited to individuals with gain-of-function (GoF) variants is because this drug is designed specifically to decrease the overactive signals being sent out by NMDA receptors caused by gain-of-function (GoF) variants.

Children who enrol in this study will be asked to participate for approximately 5 months including a screening period. During this time, they will be asked to visit the clinic site up to 9 times. Clinic sites are in London Great Ormond Street and Royal Hospital for Children, Glasgow, as well as elsewhere in Europe and USA. Expenses to get to either London or Glasgow are covered by the study. Some in-clinic visits may be performed via telephone/home visits for certain patients.

Yes you will need to travel to either London or Glasgow for clinic visits. If it is more convenient for the study team to come to you, this can be arranged (in Scotland at least)
Through clinic visits and careful documentation, data is collected on the effect of Radiprodil on children with GRI disorders.
No, but study participants will receive study-related medical exams and active investigational Radiprodil at no cost to themselves.
Check if your child pre-qualities​

New and targeted treatments

Come back here soon to find updated news and information