Study Rationale: Parkinson’s disease starts much earlier than the signs appear and people seek diagnosis. Scientists are therefore searching for changes that are relevant to the disease that could be picked up in minimally invasive sample collection such as blood. These changes (or biomarkers) could aid earlier diagnosis or targeted therapies that could slow or stop Parkinson’s disease.
Hypothesis: A protein involved in vitamin metabolism is very low in the blood and brain of some PD patients with gene mutations. We would like to know whether even small changes to this protein are relevant for people with all kinds of Parkinson’s disease and those at risk to develop the disease.
Study Design: We would like to analyze the protein in dried blood spots from a large number of PD patients from different countries. We will look at more samples from patients that have gene mutations and those that have no known disease cause. To compare, we will also look at healthy people, people that might be at risk to develop disease and people that do not have PD but other neurodegenerative disease. Then we will analyze the data and look whether the levels of the protein match with other research and clinical data side by side.
Impact on Diagnosis/Treatment of Parkinson’s disease: Donating a blood spot on a paper card either as part of a routine blood draw or with a skin prick means that people can easily provide samples for this type of assay. Finding that this protein is low could mean further testing happening much earlier than is usual and possibility for preventative therapies and/or targeted treatment.
Next Steps for Development: If successful, we will further cross-validate and develop the assay with the aim of making the measurements as simple and affordable as possible. We also hope to start clinical trials with nutraceuticals that have previously been approved as safe to monitor their effectiveness to target this pathway in PD.