Pioneer study shows promising results for cognitive treatment for Down syndrome

Pioneer study shows promising results for cognitive treatment for Down syndrome

The ICOD (Improving Down Syndrome-Down Syndrome) project, a pioneering study to address the cognitive difficulties associated with Down syndrome cognitive function in these people. The study was conducted by the Del Mar Hospital Research Institute.

This phase of the study (Phase 1/2 of the project), funded by the European Union under the Horizon 2020 R+D program and Aelis Farma, was carried out with 29 people with Down syndrome between 18 and 35 years old with mild or moderate disability. The aim was to test the safety of the treatment and examine the potential to improve participants' cognition and daily functionality. Its safety had previously been validated in people without this syndrome.

To conduct the study, volunteers received the AEF0217 molecule developed by Aelis Farma or placebo for 28 days. The results now published show both the safety of the treatment and the improvement in cognitive function in people who received it compared to those who received placebo.

AEF0217 was found to significantly improve behavioral skills in the areas of communication, daily living and social interactions. These improvements were also associated with a consistent trend toward greater cognitive flexibility, which is the ability to adapt to new situations or changes.

In addition, studies using electroencephalography, which examine the brain's spontaneous electrical functions, show statistically significant changes in brain function after AEF0217 treatment, indicating that people with Down syndrome required less effort to complete working memory tasks. These results reinforce the idea that the treatment works effectively on brain, cognitive and functional levels, providing initial promising consistent data on its beneficial potential.

Dr. Rafael de la Torre, who coordinates the ICOD EN project, conducted the clinical trials at the Del Mar Research Institute hospital with Dr. Ana Aldea, explains that "the promising and impressive results of this study lead to real hope for developing a safe and effective treatment for cognitive dysfunction in people with Down syndrome ". And he adds that "the effectiveness data are particularly striking and address important areas of adaptation such as expression and writing skills, as well as daily skills and social interactions. These effects, obtained after just four weeks of treatment, are the first in the field of Down syndrome and represent an important step forward towards the development of a treatment that significantly improves the autonomy and adaptation of these people could.”

Down Catalunya, the company that represents the Down Association in Catalonia and collaborated with the Del Mar Research Institute hospital in the project, values ​​“these results very positive, due to their impact on improving the quality of life of people with Down syndrome and, in general, with intellectual and developmental disabilities”.

A new therapeutic approach

The molecule developed by Aelis Farma is based on the fact that people with Down syndrome have hyperactivity of the cannabinoid receptor CB1, according to several studies that indicate that its modulation with specific inhibitors dramatically improves cognitive performance in animal models. Treatment with AEF0217, the first drug in a new pharmacological class, CB1 receptor signaling-specific inhibitors (CB1-SSI), mimics a natural brain defense mechanism to counteract the hyperactivity of this receptor. At the same time, the function of the APOE4 genotype, which is associated with endocannabinoid physiology and which is the main genetic risk factor for Alzheimer's disease, is also being investigated.

The team of Dr. Diego Real de Asua from the Hospital de la Princesa in Madrid also took part in the work. To accomplish this required the collaboration of the participants, their families and family associations, who supported the project and helped complete this landmark clinical trial.

Next level: international studies

The results obtained reinforce the continuity of the project and allow us to move to the next stage: an international multicenter Phase 2 study that will begin in the middle of next year. This study focuses on determining the appropriate dosage of treatment to maximize its benefits. The aim will be to deepen the improvement of both functionality in daily life and specific cognitive functions in people with Down syndrome.

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