LLC Study Overview
The LRRK2 Cohort Consortium (LCC) was created to assemble and study groups of people with and without Parkinson’s disease who carry mutations in the LRRK2 gene. It comprises three closed studies: the LRRK2 Cross-sectional Study, LRRK2 Longitudinal Study, and the 23andMe Blood Collection Study. The LCC followed standardized data acquisition protocols, and clinical data and biological samples are stored in a comprehensive Parkinson’s database and biorepository, respectively.
Total Participants (Cohort records that met the AMP PD minimum clinical data criteria):
Idiopathic PD subjects, PD subjects with genetic mutation in the LRRK2 gene, unaffected subjects with genetic mutation in the LRRK2 gene, and heathy control subjects.
Male and female subjects
Additional Study Information:
LLC Goals and Objectives
The LRRK2 Cohort Consortium (LCC) is a multi-site systematic study of individuals with Parkinson’s disease (PD) and parkinsonism and their family members. The study’s focus is to characterize PD involving the LRRK2 gene and other known and yet unknown genetic contributors to PD and parkinsonism, and to identify markers of disease progression as well as risk markers for developing disease. The testing battery consists of a general screening phase in which minimal exam, medical and family history, and blood samples are obtained, and an in-depth phase consisting of neurological exam, analysis of gait, spiral drawing, neuroimaging using ultrasound (and DaTScan in a subset of unaffected family members), blood and urine sampling, neuropsychological testing, additional questionnaires about medical and family history, a phone interview about mental health, and lumbar puncture and skin biopsy in a small subset. The genetic arm of this study explored examination of environmental exposures and LRRK2 expression through genome-wide association and expression analyses, potential genetic modifiers of LRRK2, molecular expression of LRRK2 pathways, and test for additional PD variants that increase risk for PD.
Study Specific Data Contribution
All variables and associated data provided by LCC have been harmonized across the contributing cohorts.
LLC Inclusion and Exclusion Criteria
Subjects were eligible for this study if they are of Ashkenazi Jewish (AJ) descent and have PD or parkinsonism, or do not have PD, but a family member does. In addition, individuals who are not of AJ descent were eligible if they or a family member have an identified mutation in the LRRK2 gene. Individuals less than 18 years of age were not eligible to participate. To participate in the SPECT imaging addendum, subjects provided a separate signed SPECT informed consent and must have consented to participate in the main clinical trial.
Subjects were eligible to participate if they:
- Are 18 years of age or older
- Provided written informed consent
- Have a negative history of neurological or psychiatric illness based on evaluation by a research physician
- Do not have non-childbearing potential or had a negative serum pregnancy test within 5 days of DaTSCANTM injection
Subjects were excluded if they:
- Have clinically significant clinical laboratory values, and/or medical or psychiatric illness
- Have evidence of clinically significant gastrointestinal, cardiovascular, hepatic, renal, hematological, neoplastic, endocrine, neurological, immunodeficiency, pulmonary, or other disorder or disease
- Have any condition that could, in the opinion of the investigator, affect his or her response to the radiopharmaceutical and related testing procedures
- Are pregnant
LLC Study Protocol and Details
HRP-503 Protocol Template Genetics of Parkinson’s Disease Consortium Study PDF
This study is funded by The Michael J. Fox Foundation for Parkinson’s Research.