Genetic Characterization of Parkinson's Disease
Tracking Information | |
---|---|
First Received Date ICMJE | March 5, 2005 |
Last Updated Date | March 3, 2008 |
Start Date ICMJE | March 2005 |
Primary Completion Date | |
Current Primary Outcome Measures ICMJE | |
Original Primary Outcome Measures ICMJE | |
Change History | Complete list of historical versions of study NCT00105131 on ClinicalTrials.gov Archive Site |
Current Secondary Outcome Measures ICMJE | |
Original Secondary Outcome Measures ICMJE | |
Current Other Outcome Measures ICMJE | |
Original Other Outcome Measures ICMJE | |
Descriptive Information | |
Brief Title ICMJE | Genetic Characterization of Parkinson's Disease |
Official Title ICMJE | Genetic Characterization of Parkinson's Disease |
Brief Summary | This study will explore the risks and causes of Parkinson's disease, a chronic progressive nervous system disorder. Patients typically have tremors, muscle weakness and a shuffling gait. Patients with Parkinson's disease, their relatives and healthy volunteers may be eligible for this study. Candidates must be 18 years of age or older. Patients whose parkinsonism is due to a secondary cause, such as infection or injury, and healthy volunteers who have a first degree family member (parent, grandparent, child, sibling) with Parkinson's disease are excluded from enrollment. Participants are asked about possible symptoms they may have and about their general health. They provide a blood sample to obtain DNA for genetic analysis to look for genetic differences that might be related to risks for Parkinson's disease. White blood cells may be treated in the laboratory to grow a cell line, which provides a source of substances in the blood without having to draw samples repeatedly. |
Detailed Description | Parkinson's disease (PD) was noted to have a familial component as early as 1880. More recently, the discovery of several genetic factors influencing Parkinson's disease has emphasized the importance of heredity in PD. Objective: The goal of this protocol will be to contribute to the genetic understanding of Parkinson's disease. Clinical data will be collected in order to document the features of Parkinson's disease in affected individuals (phenotyping). Genetic characterization will be undertaken for the discovery of specific genes which cause or contribute to the risk for Parkinson's disease (genotyping). Design: The study design has two components. The first (aim 1) involves positional cloning for gene discovery in families with apparent Mendelian inheritance. The second (aim 2) will utilize an association study design, using genetic case-control methods for assessment of genetic risk factors. We will examine individuals affected by Parkinson's disease and their family members towards Specific Aim 1. Specific Aim 2 will involve evaluation of individuals with apparent sporadic Parkinson's disease, and also, healthy adult volunteers who will be recruited as control subjects. Outcome Measures: Primary Outcome Measures for Specific Aim 1 are:
Primary Outcome Measures for Specific Aim 2 are:
Secondary Outcome Measures (both Specific Aims 1 and 2): Genotype/phenotype correlations for specific genetic forms of Parkinson's disease. For example, we will assess if a particular age of onset, cardinal or secondary feature of PD or associated clinical course is associated with a given genotype. Future Direction: Because 1) the larger sample base the greater the likelihood of the discovery of genes of minor effect and 2) discoveries of genetic risk factors require validation in additional sample series, it is likely that renewal of this protocol will be sought after five years. Study Population: We aim to enroll a total of 2500 subjects over five years. These will include approximately 500 samples for the Mendelian studies (Specific Aim 1), and 2000 for association studies (Specific Aim 2). These estimates are based both on feasibility and on statistical power. Subjects will be evaluated at the NIH Clinical Center. |
Study Type ICMJE | Observational |
Study Design ICMJE | |
Biospecimen | |
Sampling Method | |
Study Population | |
Condition ICMJE |
|
Intervention ICMJE | |
Study Group/Cohort (s) | |
Publications * |
|
* Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline. |
|
Recruitment Information | |
Recruitment Status ICMJE | Completed |
Enrollment ICMJE | 2500 |
Completion Date | November 2005 |
Primary Completion Date | |
Eligibility Criteria ICMJE | INCLUSION CRITERIA: Individuals with Parkinson's disease OR Family members of an individual diagnosed with Parkinson's disease OR Healthy adult controls obtained through the NIH Clinical Research Volunteers Program (CVRP) or other healthy control volunteers who come forward. EXCLUSION CRITERIA: Under the age of 18 years of age OR Individuals with Parkinsonism secondary to a specific cause such as toxin exposure, birth injury, head injury, or brain infection such as encephalitis. Healthy volunteers with a medical history or first degree family history of Parkinson's disease. |
Gender | Both |
Ages | |
Accepts Healthy Volunteers | Yes |
Contacts ICMJE | Contact information is only displayed when the study is recruiting subjects |
Location Countries ICMJE | United States |
Administrative Information | |
NCT Number ICMJE | NCT00105131 |
Other Study ID Numbers ICMJE | 050115, 05-N-0115 |
Has Data Monitoring Committee | |
Responsible Party | |
Study Sponsor ICMJE | National Institute of Neurological Disorders and Stroke (NINDS) |
Collaborators ICMJE | |
Investigators ICMJE | |
Information Provided By | National Institutes of Health Clinical Center (CC) |
Verification Date | November 2005 |
ICMJE Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP |