Study to investigate mutations in the GBA1 and LRRK2 genes in Parkinson’s Disease patients.

For a upcoming Phase I B study (CHDR1 710), investigating a possible first-in-class disease modifying drug, 28 Parkinson's disease patients with a GBAI mutation (PD-GBA+) are needed. This is a mutation that occurs in approximately 5-10% of PD patients. There is no way to phenotypically differentiate between PD patients with and without a GBAI mutation. ln order to identify these patients, a large-scale screening is needed. Another gene which is known to be involved in the Parkinson's disease process is the LRRK2 gene. This gene is also a possible target for novel treatments, currently being investigated. ln order to perform proof-of-concept or efficacy studies of such treatments, a database of genotyped PD patients is important in order to be able to efficiently enroll a relevant subject population. The patients will be recruited in the Netherlands.

Genotyping of the full GBAI gene in people with Parkinson's Disease, assessed as wildtype (GBA-) or containing a mutation (GBA+); the specific mutation will be recorded as well. Assessing the presence of 7 known PD-causing mutations in the LRRK2 gene in people with Parkinson's Disease, assessed as wildtype (LRRK2-) or containing a mutation (LRRK2+); the specific mutation will be recorded as well. Storage of DNA, obtained through saliva, for possible further assessments of genes related to Parkinson's Disease in the future.

• 1x (at home) saliva kit.

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