TRIAL21: A COHORT OF ADULTS WITH DOWN SYNDROME AT RISK OF DEVELOPING ALZHEIMER'S DISEASE

Abstract

AbstractBackgroundTrisomy 21, in addition to being the first cause of intellectual disability, confers a high risk of developing Alzheimer’s disease (AD). The APP (Amyloid Precursor Protein) gene is located on chromosome 21, leading to high levels of ß‐amyloid peptide. However, there is great variability in the age of onset of symptoms.The objective of this study is to identify factors influencing the age of onset of the disease by following a cohort of adults with trisomy 21MethodThis is a prospective, single‐center, open‐label study. A total of 200 patients aged at least 35 years without a diagnosis of AD at baseline will be included.Baseline visit includes a medical examination, a neuropsychological evaluation, a blood sample and a lumbar puncture (if possible). A brain MRI is performed within 3 months. A medical visit takes place at 12 months. The end‐of‐study visit at 24 months includes a medical examination, a neuropsychological evaluation and a blood sample. An annual follow‐up for 10 years in the care setting is provided.ResultBetween April 2019 and January 2023, 119 patients were included, including 55 women and 64 men. The average age was 48 years.25 lumbar punctures and 90 brain MRI could be performed, as 86 visits at 12 months and 44 visits at 24 months.ConclusionEarly changes related to AD are particularly difficult to detect in adults with Trisomy 21 because of their intellectual disability. The identification of progression factors of the disease is essential to allow an early diagnosis for an appropriate management