Cell Studies of Parkinson's Disease

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00076505
Recruitment Status : Completed
First Posted : January 26, 2004
Last Update Posted : July 2, 2017
Information provided by:
National Institutes of Health Clinical Center (CC)

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)

Condition or disease
Parkinson Disease

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 Type : Observational
Enrollment : 150 participants
Official Title: Bioenergetic Function in Parkinson's Disease
Study Start Date : January 14, 2004
Study Completion Date : November 30, 2006

Resource links provided by the National Library of Medicine

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes

Individuals over the age of 18 from families in which an inherited form of parkinson's disease is apparent will be enrolled. These patients are already enrolled in the Genetic linkage analysis protocol 97-HG-0173.

The diagnosis of Parkinson's disease must be supported by accepted clinical criteria including: tremor, bradykinesia, rigidity and responsiveness to L-DOPA.

Unaffected family members found to be at risk, will also be enrolled.

The normal control group will be comprised of anonymous platelet donors from the NIH Department of Transfusion Medicine and of individuals over the age of 18 with no known neurological disorder and normal neurological examination matched by age and sex that may be actively recruited.

Individuals with Lewy Body disease (LBD) that meet current criteria for diagnosis (hallucinations, diurnal variation, and dementia associated with extrapyramidal symptoms within a one year period) will also be included in the study.


Because some medications can alter mitochondrial function, patients on MAO inhibitors, antidiabetic sulfonylureas and benzodiazepines will be excluded from the study.

No person under the age of 18 will be enrolled in this study. This is due to the fact that, except for very rare occasions, Parkinson's disease affects only adults.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT00076505

United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States, 20892
Sponsors and Collaborators
National Human Genome Research Institute (NHGRI)

Publications: Identifier: NCT00076505     History of Changes
Other Study ID Numbers: 040092
First Posted: January 26, 2004    Key Record Dates
Last Update Posted: July 2, 2017
Last Verified: November 30, 2006

Keywords provided by National Institutes of Health Clinical Center (CC):
Parkinson's Disease
Parkinson Disease
Parkinson Disease At Risk
Healthy Volunteer

Additional relevant MeSH terms:
Parkinson Disease
Parkinsonian Disorders
Basal Ganglia Diseases
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Movement Disorders
Neurodegenerative Diseases