PD/Ashkenazi Jews and LRRK2 Consortium

Parkinson’s disease (PD), Ashkenazi Jews (AJ) and LRRK2 – a consortium proposal

Recruitment Information:

Seeking volunteers with following diagnosis: Only Controls Study Type: Observational
Eligible Ages: 18 - 100 Status: Completed
Time Since Diagnosis: Any may be eligible Study Focus: Anxiety, Biomarkers, Bradykinesia (slowness of movement), rigidity, Cause of PD, Cognitive Deficits, Constipation/Bladder Problems, Depression, Dyskinesia, Dysphagia (difficulty swallowing), Fatigue, Gait disturbances (e.g., freezing), Genetics, Hypotension (low blood pressure), Postural Instability (falling), Sexual Dysfunction, Sialorrhea (excessive salivation), Sleep Disturbances, Speech Difficulties, Tremors

Study Purpose:

The primary objective of this study is to collect clinical, genetic, biomarker and imaging information from Ashkenazi Jewish individuals having PD or a family member with PD. Subjects will include 300 PD patients, half of whom carry the LRRK2 G2019S mutation, as well as 300 asymptomatic family members, half of whom carry the same mutation, and 100 unrelated spouse controls. Through this study we hope to better understand the clinical genetics of LRRK2 PD, including subclinical features that may help in early detection and interverntion in the future. We also hope to identify new PD genes through GWAS and expression analyses.

More Details

This is an observational, multi-center study of clinical features, imaging and biologic markers in Ashkenazi Jewish PD patients and their family members. Study participants will be asked to complete questionnaires related to medical and psychological health, sleep, smell, autonomic dysfunction and family history. They will also be asked to have a neurological exam, transcranial ultrasound, gait analysis, and to donate blood, urine, and an optional lumbar puncture. The test battery will be done at baseline and at 15 month intervals for a total of 4 visits. Each visit will take aproximately 4 hours. A subset of 70 asymptomatic family members will also be invited to have 2 DAT scans at 24 month intervals.

Phase: Lead Sponsor: The Michael J. Fox Foundation
Trial ID: 002693 Sponsor Type: Nonprofit
Primary Country: United States Additional Collaborators or Sponsors: Karen Marder, MD and Nir Giladi, MD
Estimated Enrollment: 0 Study Start Date:
Estimated Study Completion Date: Source:
Study Website:

More Inclusion & Exclusion Criteria

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