Clinical trial NCT04668898: LRRK2, GBA and Other Genetic Biomarkers in Eastern European (Ashkenazi) Jews With and Without Parkinson's Disease
Official title: Dissecting Oligogenic Biomarkers in Ashkenazi Jews With Parkinson's Disease
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Parkinson Disease
LRRK2
GBA Gene Mutation
Keywords: Parkinson's disease
Parkinsonian Disorders
LRRK2
GBA
Movement Disorders
Neurodegenerative Diseases
Lead sponsor: Icahn School of Medicine at Mount Sinai
Sponsor class: OTHER
Collaborators: name: Massachusetts General Hospital
name: National Institute of Neurological Disorders and Stroke (NINDS)
First posted: 2020-12-16
Enrollment: 203
Sex: ALL
Minimum age (years): 30
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: CASE_CONTROL
Time perspective: OTHER
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Parkinson disease patients and their family members who are of Ashkenazi (Eastern European) Jewish descent who either have a GBA or LRRK2 mutations or who have 3 or more family members with PD.

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.

Eligibility criteria: 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.

Primary outcomes:
measure: Elucidate blood-based genetic biomarkers in Parkinson's disease
timeFrame: five years
Secondary outcomes:
Other outcomes:
Locations:
city: New York
country: United States
facility: Mount Sinai-- Downtown Union Square
state: New York
Study officials:
affiliation: Icahn School of Medicine at Mount Sinai
name: Rachel Saunders-Pullman, MD, MPH
role: PRINCIPAL_INVESTIGATOR
affiliation: Massachusetts General Hospital
name: Laurie Ozelius, PhD
role: PRINCIPAL_INVESTIGATOR
References: