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Measurement of Phosphorylated Alpha-synuclein in Skin Biopsies as a Prospective Biomarker for Parkinson’s Disease

Study Rationale: Parkinson’s disease (PD) is associated with an accumulation of phosphorylated alpha-synuclein, and the amount of the protein increases as PD progresses. We have found that we can detect phosphorylated alpha-synuclein in the skin biopsies of 93% of people with PD. In this study, we will examine people with a range of PD severity over the course of two years and measure the change in the phosphorylated alpha-synuclein protein in the skin, a critical first step in the development of a cure. 

Hypothesis: We hypothesize that phosphorylated alpha-synuclein can be measured from simple skin biopsies in people with PD and that the level of the protein increases with time and with disease severity.

Study Design: We will recruit 100 people in different stages of PD, from minimal early symptoms to advanced disease. All participants in the study will undergo simple skin biopsies at six-month intervals to measure the change in phosphorylated alpha-synuclein over time. To track disease progression, participants will also complete PD examinations and questionnaires at each visit.

Impact on Diagnosis/Treatment of Parkinson’s disease: At present, phosphorylated alpha-synuclein protein can be detected — but not accurately measured — via lumbar puncture. The ability to measure phosphorylated alpha-synuclein through a simple skin biopsy will dramatically change how new PD drugs are developed by allowing direct visualization of the change in protein levels with successful treatment.

Next Steps for Development: A commercially available skin biopsy test (SYN-One) only provides a yes/no answer with regards to detecting phosphorylated alpha-synuclein. This project will allow us to directly measure phosphorylated alpha-synuclein, translating the results into clinical practice and supporting biopharmaceutical drug development of novel PD therapies.   


Researchers

  • Roy Freeman, MD

    Boston, MA United States


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