Huntington Disease Clinical Trial
Official title:
Huntington's Disease Young Adult Study 2.0
The goal of this observational study is to learn about the first signs of disease in young adult carriers of the gene for Huntington's disease. The main questions to answer are: - what are the earliest signs of the disease? - can we identify the best time to intervene with treatment to prevent or delay onset of symptoms? - can we identify the most reliable markers of disease for use in prevention trials? Participants will undergo the following assessments: - clinical examination - cognitive and neuropsychiatric testing - brain imaging - biofluid sampling Researchers will compare gene carriers with matched controls to see if any of these measures show evidence of early disease effects.
We will undertake follow up assessments of the HD-YAS cohort comprising far-from-onset premanifest mutation carriers (preHD) (n=64) and controls, matched for age, sex and education (n=67). These assessments will occur approximately 4.5 and 6 years after their baseline assessment. They will include - detailed clinical assessment - cognitive testing using CANTAB and the EMOTICOM - neuropsychiatric assessment - neuroimaging including 3T volumetric MRI, NODDI, resting state fMRI and multiparametric mapping. A subset of 20 gene carriers and 20 controls will undergo 7T imaging - blood and CSF sampling We will compare change over time in preHD and control groups and model disease burden influence (an early natural history proxy) within the preHD group. These analyses will incorporate previous baseline measurements (providing three timepoints). We will create a data-driven natural history of pathological changes across the pre-clinical period in HD and estimate longitudinal models of age and CAG-dependence on the outcomes, providing a critical tool to increase power. ;
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