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The GRINscale Project:

The team of Dr. Angeles Garcia Cazorla, pediatric Neurologist and metabolic disease specialist at the Sant Joan de Déu Hospital in Barcelona, is currently working on developing the GRINscale. The GRINscale project arose from the need to understand the major changes that happen in patients with GRIN disorders.

The wide variety and diversity of symptoms that this group of diseases represents shows the need for an appropriate scale that measures all the relative complex changes each particular individual may undergo when facing any kind of treatment.

The scales currently used for the assessment of children with GRIN disorders, like the Bayley´s scale and the Vineland, are unfortunately not suited to capture the complex pathology and the many facets of the various GRIN disorders. This became very clear to the team while working on the L-Serine trial. Many improvements that were reported by parents were not being captured by these traditional tests.

The team therefore decided to start working on the development of a GRIN specific functional scale for the whole of GRIN disorders. To validate this scale Dr. Garcia Cazorla will collaborate with doctors from Spain and with other European partners, to share and validate these findings.

Through funding from the Spanish GRIN association, GRINpatias, Dr. Garcia has been able to hire a full time Neuropediatrician for 3 years to collect and coordinate the data and verify potential developmental changes that could define the outcomes associated with response to treatment. The development of these specific clinical markers is essential for future clinical trials.

By the end of this year, the GRINscale will enter its last phase in which doctors from other European Hospitals will be asked to test and further refine the GRINscale, by applying it to their local GRIN patients. This phase will however require further funding.

GRIN Europe recognizes the importance of the GRINscale project and would like to help with its continuous funding. For that reason, our association has decided to donate 1,000 euros, raised by our board members through private FB fundraising campaigns, to this project. We hope other GRIN families and communities will join this initiative too. 

If you want to learn more about the GRINscale project, please check the videos below. One is a short presentation of the project done to promote the GRINscale and the second video is the talk Dr. Garcia Cazorla did on the GRIN scale at our recent (5th) European GRIN Conference in Barcelona in October of last year.

We are sure you will agree that the further development and the subsequent implementation of the GRIN scale is of great importance for our GRIN children. We therefore encourage you to join in our efforts to further fund this project via a donation to our bank account (FR76 1548 9048 0000 0928 1560 156) or via Paypal.

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Gene therapies for GRIN disorder

This project, led by Amy Ramsey, brings together NMDA receptor neuroscientists with pediatric neurologists (including Dr. A. García Cazorla, who led the Serine clinical trial for GRIN disorder) and biotech researchers who specialize in gene therapy. The goal is to test the efficacy and tolerability of gene replacement as a strategy to treat GRIN disorder.

SFARI | Gene therapies for GRIN disorder

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