A Phase 1/2 clinical trial reveals that AEF0217, a new molecule targeting brain receptor activity, safely improves communication and daily living skills in adults with Down syndrome. The results mark a significant step toward developing targeted cognitive treatments for the condition.
Published in Reports and Proceedings – IMIM (Hospital del Mar Medical Research Institute) | Estimated reading time: 5 minutes
Hope Through Science
For the millions of families affected by Down syndrome, the quest for treatments to enhance cognitive function and independence has been long and challenging. Now, researchers at the Hospital del Mar Research Institute have unveiled promising results from the ICOD (Improving Condition in Down syndrome) project, offering new possibilities for cognitive enhancement in adults with Down syndrome.
The trial, funded by the European Union’s Horizon 2020 R&D programme and Aelis Farma, involved 29 participants aged 18-35 with mild to moderate disability. Over 28 days, participants received either AEF0217 or a placebo, with researchers measuring changes in cognitive function and daily living skills.
Dr. Rafael de la Torre, coordinator of the ICOD project, emphasizes the significance of the findings: “The promising and impressive results of this study generate real hope of developing a safe and effective treatment for cognitive dysfunctions in people with Down syndrome.” He notes that “the effectiveness data are particularly striking, addressing crucial domains of adaptation, such as expression and writing skills, as well as daily living skills and social interactions.”
Understanding the Science
AEF0217 represents a novel therapeutic approach, targeting the hyperactive cannabinoid receptor CB1 found in people with Down syndrome. The drug, classified as a CB1 Receptor Signaling Specific Inhibitor (CB1-SSi), works by mimicking the brain’s natural defense mechanisms. Electroencephalography studies revealed that participants required less mental effort for memory tasks after treatment, suggesting meaningful changes in brain function.
The research team, including Dr. Ana Aldea and Dr. Diego Real de Asua from Hospital de la Princesa in Madrid, found significant improvements in three key areas: communication, daily living skills, and social interactions. Participants also showed enhanced cognitive flexibility – the ability to adapt to new situations.
Looking Ahead
Building on these positive results, researchers are preparing for an international multicenter Phase 2 study, scheduled to begin mid-next year. This expanded trial will focus on optimizing dosage and further exploring the treatment’s potential to enhance daily functionality and specific cognitive functions.
Glossary
- CB1 Receptor: A cannabinoid receptor in the brain that influences cognitive function, showing hyperactivity in people with Down syndrome
- Cognitive Flexibility: The mental ability to adapt to new situations or changes
- Electroencephalography: A method for studying brain electrical activity and function
Test Your Knowledge
How many participants were involved in the Phase 1/2 trial?
29 participants aged 18-35 with mild to moderate disability participated in the trial.
How long did the treatment period last?
The treatment period lasted 28 days.
What specific receptor does AEF0217 target in the brain?
AEF0217 targets the cannabinoid receptor CB1, which shows hyperactivity in people with Down syndrome.
What is the mechanism of action for AEF0217 in the brain?
AEF0217 acts as a CB1 Receptor Signaling Specific Inhibitor (CB1-SSi), mimicking the brain’s natural defense mechanisms to counteract CB1 receptor hyperactivity.
Enjoy this story? Subscribe to our newsletter at scienceblog.substack.com.