From IMIM and CRG, we’ve been working for a few years developing clinical surveys in order to study intellectual development disorders and specifically Down Syndrome. Nowadays we are working in two surveys and we need volunteers to collaborate with us. This article is about the need of these surveys.

Dr. Rafael de la Torre (4th on the left) and Dra Mara Dierssen (3rd on the right) together with the IMIM and the CRG researchers are involved in the study of Down Syndrome.

First of all, let me introduce myself to those who don’t know me. I’m doctor Rafael de la Torre and I am in charge of the IMIM-Hospital del Mar Integrated Pharmacology and Systems Neuroscience research group. A few years ago, in collaboration with doctor Mara Dierssen from the Center of Genomic Regulation (CRG) we initiated a a line of study aimed to improve the cognitive functions of the indivuals with Down Syndrome. The most popular part of this work is known as the green tea study. I’ll explain what we are working on at the moment.

BORMATE study

We are working in an observational study on the Down Syndrome (DS) in which volunteers don’t take any kind of substance or medicine. The purpose of this study is to validate a new test which allows us to assess memories and executive functions of the people with Down Syndrome. Why? Because during the last few years many pre-clinical studies in animal models with DS (trisomic mice)  have been carried out around the world in order to improve their cognitive performance. The results are hopeful but when these investigations are done with humans the results are not so good. We think that the different results between pre-clinical and clinical studies are due to the fact that the tools we have to mesure this improvement in the clinical studies are not suitable enough.

The study I’m talking about is called “Clinical validation of the Bordeaux Maze Test (BORMATE)”, as the University of Bordeaux developed a memory test which is carried out in a similiar way to mice and humans. This instrument allows us to study the memory and executive functions (work memory), both very important in the congitive functions of the individuals with DS. Thanks to this survey we’ll have a tool for the future clinical studies dedicated to the people with DS, without which we couldn’t get good results.

We are doing this survey in collaboration with the group of investigation Pathophysiologie de la Mémoire Déclarative (Neurocentre Magendie, Bordeaux) and the company Aelis Farma (Neurocentre Magendie, Bordeaux).  During the first quarter of 2020 we will carry out neuropsychological tests to 25 people  with Down syndrome with ages between 16 and 35 years old of both sexes. The survey will mean a total of three visits to the IMIM. The first includes a medical avaluation and a blood test aswell as neuropsychological exploration while the second and the third visit will consist in a neuropsychological avaluation. The stury does not carry any risk and, as I said before, there is no need to take any kind of medicine.

GO-DS21 Study

The second study, which will start on February, is an international project aimed to know better the comorbidities, that is to say, the disorders associated to the Down Syndrome (DS). In this case the study focuses specially in obesity. What we try to discover is which genetic, epigenetic and ambient mechanisms contribute to the main risk of developing obesity for the people with DS. Once we know this we will be able to create new therapeutic interventions to prevent or minimise the negative consequences of obesity in people with DS. And of course, we expect that the discoveries of this project will be also beneficial for the entire population.

The name of this study is “Gene overdosage and comorbidities during the early lifetime in Down syndrome (GO-DS21)”. It is a project financed by the H2020 European Union program with the participation of thirteen investigaation centers: Centre Européen de Recherche en Biologie et Médecine; Institut du Cerveau et de la Moelle Epiniere; Fundació Centre de Regulació Genòmica; King’s College London; Queen Mary University of London; Helmholtz Zentrum Muenchen Deutsches Forschungszentrum fuer Gesundheit und Umwelt; Manros Therapeutics; Institut Jerome Lejeune; Concentris Research Management Gmbh; Fundació Institut Mar d’Investigacions Mèdiques IMIM; The Chancellor Masters and Scholars of the University of Cambridge; European Down Syndrome Association; Trisomy 21 Research Society.

We need to recruit a total of 100 people with Down Syndrome with ages between 12 and 45 years old from both sexes in order to study their life habits and to evaluate them neuropsychologically. That means a one day visit to the IMIM to carry out the explorations. From the 100 participants we will choose 30 individuals with extreme weight who will be followed-up during 18 months, with no intervention. In the meantime, the Center of Genomic Regulation (CGR) will analyse biological samples of these groups of volunteers aswell as two other groups from France and United Kingdom.

The increase in life expentancy for the people with DS is a great new, thanks to the combination of medical advances and the tasks that these entities have done for their social inclusion. But it also implies that we (administrations, professionals, entities and famílies) are all bound to work so that they have the best possible quality of life. From science we work to develop effective treatments to improve their cognitive capacity, which can be deteriorated due to comorbidities as obesity and requires reliable avaluation systems of these capacities. That’s why we need collaboration from famílies. We know we are asking for a big effort from you as the scientific rhythms are not the ones that families would like to be but most of what we discover now will be useful for future generations, as well as we are now receiving the benefits of past research. The only thing I can say to you is that we work for the community, for a cause, and we need you.

If your child wants to paryicipate as a volunteer at one of these surveys, please contact

Maria Gomis: mgomis@imim.es

Free parking for all the visits.

Participants at the BORMATE survey will receive a gratification 150€.