Study Rationale: To study the pathogenic processes underlying Parkinson’s disease (PD), we have recruited a cohort of several hundred people, including those with hereditary PD, those that carry PD mutations but do not yet show signs of disease and those who have PD for which the cause is unknown. We have carefully characterized this cohort, obtaining clinical data, collected plasma and cerebrospinal fluid (CSF) samples and, in some cases, conducted brain imaging. We will now assess whether integrating the results of alpha-synuclein seeding experiments would enrich our understanding of the disease and help us to understand its subtypes and its biological foundations.
Hypothesis: We hypothesize that integration of results from Amprion’s seeded aggregation amplification assay (SAA) would significantly enrich or Biopark’s existing dataset and help us to understand subtypes of PD and strengthen biological foundations for diagnosis.
Study Design: A strength of Biopark is the availability of idiopathic cases and GBA mutation carriers with and without PD, accompanied by major sets of clinical data, bio-banked plasma and CSF. For comparison, the cohort also contains patients with atypical parkinsonism(s). The Biopark is a real-world single-center cohort and is very actively recruiting. We will add SAA data to the Biopark cohort to help us to identify biomarkers useful for PD diagnosis and drug development.
Impact on Diagnosis/Treatment of Parkinson’s disease: Successful completion of this project would yield novel molecular data enabling the development of combinatorial biomarkers useful for PD diagnosis, prognosis and demonstration of target engagement in upcoming clinical PD trials.
Next Steps for Development: In the future, Biopark could potentially join or harmonize with the PPMI cohort initiative to support development of biological foundations for diagnosis and staging of various forms of PD.