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DROGHEDA, Ireland – David Clarke, 44, exemplifies the progress made in Down syndrome care. Juggling two jobs, one at a local supermarket recycling waste and another in Dublin at a gift hamper warehouse, Clarke leads a fulfilling life. His father, Pat Clarke, a volunteer with the European Down Syndrome Association (EDSA), recalls a starkly different reality when David was born in 1981. “Life expectancy then was in the mid-20s. Now, it’s 60 to 70,” he said.
While life expectancy has dramatically improved, researchers are now focusing on enhancing the quality of those extended years. People with Down syndrome face increased risks of health complications, including early-onset Alzheimer’s, obesity, and other serious conditions.
Dr. Yann Hérault, a geneticist leading the GO-DS21 research initiative, is working to understand these health risks. “We need to know when and how these comorbidities appear to understand the syndrome as a whole,” he explained.
The GO-DS21 team, comprised of experts from across Europe, has already uncovered crucial insights. For instance, they found a significantly higher risk of diabetes in individuals with Down syndrome, but also discovered that diabetes is not the main driver of obesity in this population, suggesting other genetic and biological factors are at play. The team has also identified higher risks of dementia, hypothyroidism, epilepsy, and leukemia, alongside lower risks of asthma, certain cancers, and high blood pressure.
These findings are crucial for developing targeted treatments and lifestyle recommendations. The team has launched a survey to gather more information from families and is working with organizations like EDSA to provide evidence-based guidance on diet and exercise.
In Barcelona, Dr. Rafael de la Torre and his ICOD research team are exploring a pharmacological approach to improve cognitive impairment. They are working with Aelis Farma on an experimental drug, AEF0217, that targets the CB1 receptor in the brain. This receptor is overactive in individuals with Down syndrome, contributing to cognitive challenges.
Early clinical trials of AEF0217 have shown promising results. Participants experienced improvements in communication, daily living skills, and social interactions within just four weeks. “This is the first time we have a treatment with the potential to really improve intellectual disability in people with Down syndrome,” said de la Torre.
If successful, AEF0217 could be the first approved treatment to enhance cognitive function in individuals with Down syndrome. A larger trial is underway, and de la Torre believes the drug could be available within three years if fast-tracked.
These research efforts are vital as the prevalence of Down syndrome appears to be increasing. By understanding the underlying mechanisms and developing effective treatments, researchers aim to significantly improve the lives of individuals with Down syndrome and their families.
Disclaimer: This article is based on information provided by Horizon: The EU Research & Innovation Magazine. While every effort has been made to ensure accuracy, readers should consult with medical professionals for personalized advice. Research in this field is ongoing, and future findings may alter current understandings. The information provided about experimental drugs and treatments should not be considered medical advice.(Horizon: The EU Research & Innovation Magazine )
