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Cell Studies of Parkinson's Disease

Primary Purpose

Parkinson Disease

Status
Completed
Phase
Locations
United States
Study Type
Observational
Intervention
Sponsored by
National Human Genome Research Institute (NHGRI)
About
Eligibility
Locations
Outcomes
Full info

About this trial

This is an observational trial for Parkinson Disease focused on measuring Mitochondria, Proteasome, Lipid, Polymorphism, Genetic, Parkinson's Disease, Parkinson Disease, PD, Heredity, Parkinson Disease At Risk, Healthy Volunteer, HV

Eligibility Criteria

18 Years - undefined (Adult, Older Adult)All SexesAccepts Healthy Volunteers

INCLUSION CRITERIA: 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. EXCLUSION CRITERIA: 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.

Sites / Locations

  • National Institutes of Health Clinical Center, 9000 Rockville Pike

Outcomes

Primary Outcome Measures

Secondary Outcome Measures

Full Information

First Posted
January 23, 2004
Last Updated
June 30, 2017
Sponsor
National Human Genome Research Institute (NHGRI)
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1. Study Identification

Unique Protocol Identification Number
NCT00076505
Brief Title
Cell Studies of Parkinson's Disease
Official Title
Bioenergetic Function in Parkinson's Disease
Study Type
Observational

2. Study Status

Record Verification Date
November 30, 2006
Overall Recruitment Status
Completed
Study Start Date
January 14, 2004 (undefined)
Primary Completion Date
undefined (undefined)
Study Completion Date
November 30, 2006 (undefined)

3. Sponsor/Collaborators

Name of the Sponsor
National Human Genome Research Institute (NHGRI)

4. Oversight

5. Study Description

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.

6. Conditions and Keywords

Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Parkinson Disease
Keywords
Mitochondria, Proteasome, Lipid, Polymorphism, Genetic, Parkinson's Disease, Parkinson Disease, PD, Heredity, Parkinson Disease At Risk, Healthy Volunteer, HV

7. Study Design

Enrollment
150 (false)

10. Eligibility

Sex
All
Minimum Age & Unit of Time
18 Years
Accepts Healthy Volunteers
Accepts Healthy Volunteers
Eligibility Criteria
INCLUSION CRITERIA: 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. EXCLUSION CRITERIA: 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.
Facility Information:
Facility Name
National Institutes of Health Clinical Center, 9000 Rockville Pike
City
Bethesda
State/Province
Maryland
ZIP/Postal Code
20892
Country
United States

12. IPD Sharing Statement

Citations:
PubMed Identifier
9774100
Citation
Leroy E, Boyer R, Auburger G, Leube B, Ulm G, Mezey E, Harta G, Brownstein MJ, Jonnalagada S, Chernova T, Dehejia A, Lavedan C, Gasser T, Steinbach PJ, Wilkinson KD, Polymeropoulos MH. The ubiquitin pathway in Parkinson's disease. Nature. 1998 Oct 1;395(6701):451-2. doi: 10.1038/26652. No abstract available.
Results Reference
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Cell Studies of Parkinson's Disease

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