GBA Gene Mutation, LRRK2, Parkinson Disease
Conditions
Keywords
Parkinson's disease, Parkinsonian Disorders, LRRK2, GBA, Movement Disorders, Neurodegenerative Diseases
Brief summary
Single site observational study focused on elucidating the genes and biochemical pathways involved in causing Parkinson disease.
Detailed description
This single site study, is enrolling Parkinson disease (PD) patients and their family members and is limited to participants of Ashkenazi (Eastern European) Jewish descent with GBA and LRRK2 mutations, or with 3 or more family members with PD. Follow-up will be for three years. Participants must be in the New York City area yearly and willing to come to Mount Sinai Downtown for yearly 2 hour study visits which include obtaining personal medical and family history information, blood, urine and spinal fluid samples, neurological exam and neuropsychiatric testing. De-identified data and samples will be securely stored at a central NIH-run repository for access by other researchers. Spinal fluid collection is encouraged but optional.
Interventions
None listed
Sponsors
Massachusetts General Hospital
National Institute of Neurological Disorders and Stroke (NINDS)
Icahn School of Medicine at Mount Sinai
Study design
Observational model
CASE_CONTROL
Time perspective
OTHER
Eligibility
Sex/Gender
ALL
Age
30 Years to No maximum
Healthy volunteers
Yes
Inclusion criteria
* Parkinson disease patients and their family members and is limited to participants of Ashkenazi (Eastern European) Jewish descent with GBA and LRRK2 mutations, or with 3 or more family members with PD * Participants must be local to the New York City area and willing to come to Mount Sinai Downtown for annual 2 hour study visits which include obtaining personal medical and family history information, blood, urine and spinal fluid samples, neurological exam and neuropsychiatric testing. Spinal fluid collection is encouraged but optional.
Exclusion criteria
-Patients who do not have Parkinson disease or family members of Ashkenazi (Eastern European) Jewish descent who either has a GBA or LRRK2 mutations OR who has 3 or more family members with PD.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Elucidate blood-based genetic biomarkers in Parkinson's disease | five years | Discovery and validation of new blood-based genetic biomarkers (both DNA and expression-based) for Parkinson's disease |
Countries
United States
Outcome results
None listed