GRIN Variant Patient Registry

The GRIN Variant Patient Registry led by Dr. Tim Benke at the University of Colorado and Dr. Johannes Lemke at the University of Leipzig continues to collect data from the entire family of GRIN variants:

GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D, GRIN3A and GRIN3B.

GRIN2B Foundation and CureGrin Foundation has previously funded the on-going Registry and functional characterization of GRIN variants respectively.

The team works with Dr. Steve Traynelis and Emory University to functionally characterize GRIN variants. Their combined efforts are necessary as we plan for future clinical trials. See his CFERV website for characterization of known variants.

If you have medical questions, please send them to GRINResearch@cuanschutz.edu or GRIN@medizin.uni-leipzig.de in order to get advice from neurologists and geneticists with expertise in GRIN-related disorders. They will not make treatment recommendations to you, but may communicate recommendations to your doctors; please let them know how to contact your neurologist. While many off-label GRIN drugs have been used, they do not endorse their use outside of a clinical trial to ensure safety and that this data and information can be accurately collected.

The data from the registry is needed in order to inform the broader community, especially industry and the FDA, in order to design and implement successful clinical trials in the years to come.

Click here to enroll in the GRIN Variant Patient Registry.

The goals of this study are to learn more about the symptoms of patients with GRIN variants. Specifically:

  1. To understand the relationship of different GRIN variants to current and past clinical features (i.e., epilepsy, delays, movements, vision, etc). Typical questions we want to answer:  If you have a GRIN2B variant, are you more likely to have epilepsy compared to GRIN2A variant? If you have a GRIN2B variant, will you develop epilepsy if you have a “gain” or “loss” of function change?
  2. To understand all of the features of different GRIN variants, such as sleep issues, gastrointestinal issues, etc. To understand how all of the features of GRIN variants change with time.
  3. To understand the relationship between GRIN variants and the effectiveness of all therapies. Typical questions we want to answer: If you were prescribed a GRIN drug, was it helpful or not? If you were prescribed a particular antiseizure medicine, was it helpful or not?
  4. To use this data to obtain funding for prospective placebo-controlled clinical trials and long-term natural history studies. Typical questions we want to answer:  Does your epilepsy, vision, etc get better or worse as you get older? Do you develop new symptoms as you get older?

Frequently Asked Questions

  1. I registered over a year ago. Should I update my data? Yes, please! Please contact the registry you enrolled (Benke/Colorado or Lemke/Leipzig; see links above).
  2. Is this registry different from the Simons Searchlight registry? Do I need to enroll in both? Yes, please. The GRIN registry and Simons Searchlight are collecting different types of data. A data sharing agreement is planned between both institutions so they can share data with each other. For Researchers to get a full picture of the scope of GRIN disorders, it is VERY important to complete both studies.
  3. Is the questionnaire for this study available in languages other than English? The questionnaire is currently only available in English. The Colorado consent form can be translated into different languages as needed. The Leipzig online registry is planned to be translated into further languages in the near future. The data of both chapters of the GRIN registry will be merged. You do not need to register in both places.
  4. Is this registry data shared with other researchers in the GRIN community? Data can be shared according to subject (patient) data protection policies of the investigational review boards and standard research ethics and practices. For Colorado and Leipzig, data is only shared with researchers that have data sharing agreements in place with Dr. Benke or Dr. Lemke, respectively; details of this are specified on the consent form that families sign to join the registry. Data (de-identified) will otherwise be shared with the broader community by frequent publications in academic journals.
  5. Is this Human Subjects Research (HSR)?  Yes, according to 45 CFR 46, this is. Any study that collects this type of data qualifies as HSR. For this type of HSR, there are additional protections too, especially in the European Union. This means that your data is only obtained and used after you sign a consent for us to use it. It also means that if at any time you wish to withdraw your consent, you can do that too. It means there are a lot of rules and regulations with regard to protecting your data and only using it in the way outlined in the consent is permitted. All studies of this type have to follow these rules. If they do not, then the host institution or the investigator could have severe penalties, including fines and prison. Any data from HSR cannot be published in scientific journals unless the approval and consent process is adequately described.