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Parkinson's disease (PD) is heritable and due to specific mutations in a minority of patients. However, identifying such mutations is becoming increasingly important, as there are now clinical trials either ongoing or planned that are testing new therapeutics specifically targeting genetic forms of PD, and knowledge of their genetic status will provide such patients with the opportunity to consider whether they wish to participate in such trials.
Our study therefore aims to provide genetic testing for one such important set of mutations, in the glucocerebrosidase (GBA), in patients with PD. The study will test 100 subjects recruited over 6 months. All will have a diagnosis of PD, but 50 will have at least one first-degree relative with a diagnosis of PD, and 50 will not have this requirement. The rationale is to test people both with and without a significant family history of PD, as those with such a history have a higher probability of harboring a genetic mutation that causes or increases risk for PD. Each subject will have a blood sample taken via pinprick, and transferred to a "CentoCard". This Centocard will be provided to Centogene for genetic testing of the GBA gene.
Subjects will be contacted via telephone (telephone encounter) to provide results. If no mutation has been found in the GBA gene, the results will be provided by the research coordinator. If a genetic mutation in the GBA is identified, the results will be provided by the study Genetic Counselor, with the opportunity for the subject to have their questions answered, and to be provided with an appointment for genetic counseling if they so wish. The main question being asked and hopefully answered is to identify individuals with GBA mutations or risk alleles such that they may use this information to participate in future clinical trials if they desire.
Cohort 1
Inclusion Criteria
1. Between 40 and 75 years of age
2. Diagnosis of Parkinson's Disease (PD) confirmed by a movement disorders neurologist
3. Willing to provide a blood sample for GBA1 genotyping.
4. Ambulatory, not dependent on walker or wheelchair.
Exclusion Criteria
1. Diagnosis of a significant neurological disease other than PD, e.g., epilepsy; stroke; amyotrophic lateral sclerosis, and others
2. Other known potential causes for PD (other than Gaucher Disease), e.g., other common mutations such as LRRK2
4. Concomitant disease or condition within 6 months of screening likely to pose an unacceptable risk to the patient or interfere with the patient’s ability to comply with future clinical
5. History of placement of deep brain stimulation or surgery for PD.
6. Any type of prior gene or cell therapy.
Cohort 2 (n=50):
Identical criteria to Cohort 1 but must have at least one first-degree relative with diagnosis of PD, by subject’s own report.
Cohort 3 (n-100):
Identical criteria to Cohort 1 with no requirement to have at least one first-degree relative (ie who may or may not have a first-degree relative) with diagnosis of PD.
Upper East Side - Manhattan
Open to Enrollment
