Cell Studies of Parkinson's Disease

Completed

• Conditions: Parkinson Disease

• Registration Number: NCT00076505
• Lead Sponsor: National Human Genome Research Institute (NHGRI)

Brief Summary

This study will examine and compare blood samples from healthy volunteers and patients with Parkinson's disease to identify abnormalities associated with Parkinson's disease. Disease symptoms include slowness of movement, hand or leg shaking, and stiffness. Some patients have difficulty with balance. Information from this study may provide information on how Parkinson's disease affects the brain and body, and may help lead to a test for earlier diagnosis.

Healthy volunteers and patients with Parkinson's disease who are 18 years of age or older may enroll in this study. Participants will undergo the following procedures:

* Physical examination, including evaluation of strength, feeling, coordination, and balance

* Blood drawing: 150 milliliters (about 10 tablespoons) of blood will be drawn

* Personal and family medical history

* Consent to access medical records for research purposes

Blood samples will be examined for:

* Genetic analysis

* Study of specific proteins and lipids

* Study of mitochondria (parts of cells that make energy)

Detailed Description

This study wants to focus on mitochondrial defects associated with Parkinson's disease (PD) and how they relate to alpha-synuclein (SNCA) expression and function. Individuals from families with inherited Parkinson's disease (affected and at risk members), as well as normal individuals, will be enrolled. All subjects will be asked to provide blood samples in order to study bioenergetic function in mitochondria from their platelets. These studies will include genotyping and determination of polymorphisms in the subjects' mitochondrial DNA (mtDNA) in order to delineate any significant abnormality that may be associated with a particular group. Cardiolipin levels will be obtained fee for service at Lipomics. Basic respirometry, enzyme activity, and somatic cell hybridization will be performed in the PI's lab. Protein analysis will be performed in the proteomics facility at NIMH.

Study Timeline

• Study Start: 2004-01-14
• Study First Submitted: 2004-01-23
• Study First Submitted QC: 2004-01-23
• Study First Posted: 2004-01-26
• Status Verified: 2006-11-30
• Study Completion: 2006-11-30
• Last Update Submitted: 2017-06-30
• Last Update Posted: 2017-07-02

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 150

Inclusion Criteria

Not provided

Exclusion Criteria

Not provided

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Trial Locations

Locations (1)

National Institutes of Health Clinical Center, 9000 Rockville Pike; 🇺🇸 Bethesda, Maryland, United States