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Cell Studies of Parkinson's Disease

This study has been completed.
Information provided by:
National Institutes of Health Clinical Center (CC) Identifier:
First received: January 23, 2004
Last updated: June 30, 2017
Last verified: November 30, 2006

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)

Parkinson Disease

Study Type: Observational
Official Title: Bioenergetic Function in Parkinson's Disease

Resource links provided by NLM:

Further study details as provided by National Institutes of Health Clinical Center (CC):

Estimated Enrollment: 150
Study Start Date: January 14, 2004
Estimated Study Completion Date: November 30, 2006
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.

Ages Eligible for Study:   18 Years and older   (Adult, Senior)
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.

  Contacts and Locations
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, see Learn About Clinical Studies.

Please refer to this study by its identifier: 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)
  More Information

Publications: Identifier: NCT00076505     History of Changes
Other Study ID Numbers: 040092
Study First Received: January 23, 2004
Last Updated: June 30, 2017

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 processed this record on August 18, 2017