Young Onset Parkinson's disease Subtypes and Pathogenic Mechanisms (YOPD Study)

Brief description of study

Young Onset Parkinson's disease (YOPD) occurs in patients before the age of 50 years. Our current knowledge about the mechanisms that cause YOPD is lacking. Understanding these causes is crucial for the successful design of therapeutic strategies and clinical trials. We know that different factors contribute to cause Parkinson’s disease, including the buildup of a protein (alpha-synuclein) in different areas of the brain, inflammation, and genetics. The clinical presentation, progression, and severity of the symptoms can be different across subjects with YOPD. These differences may be due to different underlying mechanisms or due to a combination of different factors described before (protein accumulation, inflammation and genetics).

The purpose of this study will be to collect clinical and genetic information as well as to characterize the inflammation and alpha-synuclein aggregation profiles in a large group of subjects with YOPD in order to define disease clinical and mechanistic subtypes. The identification of different YOPD sub-types from a clinical as well as a mechanistic point of view (including different disease rate of progression of the symptoms, genetic mutations and biomarker profiles) is crucial to better inform patients about possible disease outcomes and implications for them and their family members in addition for the designing of therapeutic approaches that may be able to delay or stop disease progression.

Clinical Study Identifier: s23-00652
Principal Investigator: Giulietta Maria Riboldi.
Other Investigator: Un Kang.

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