Ignite Creation Date:
2024-05-05 @ 11:40 AM
Last Modification Date:
2024-10-26 @ 9:11 AM
Study NCT ID:
NCT00105131
Status:
COMPLETED
Last Update Posted:
2008-03-04
First Post:
2005-03-05
Brief Title:
Genetic Characterization of Parkinsons Disease
Sponsor:
National Institute of Neurological Disorders and Stroke NINDS
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
Genetic Characterization of Parkinsons Disease
Status:
COMPLETED
Status Verified Date:
2005-11
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief Summary:
This study will explore the risks and causes of Parkinsons disease a chronic progressive nervous system disorder Patients typically have tremors muscle weakness and a shuffling gait
Patients with Parkinsons 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 Parkinsons 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 Parkinsons 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
Patients with Parkinsons 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 Parkinsons 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 Parkinsons 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:
Parkinsons disease PD was noted to have a familial component as early as 1880 More recently the discovery of several genetic factors influencing Parkinsons disease has emphasized the importance of heredity in PD
Objective The goal of this protocol will be to contribute to the genetic understanding of Parkinsons disease Clinical data will be collected in order to document the features of Parkinsons disease in affected individuals phenotyping Genetic characterization will be undertaken for the discovery of specific genes which cause or contribute to the risk for Parkinsons 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 Parkinsons disease and their family members towards Specific Aim 1 Specific Aim 2 will involve evaluation of individuals with apparent sporadic Parkinsons disease and also healthy adult volunteers who will be recruited as control subjects
Outcome Measures
Primary Outcome Measures for Specific Aim 1 are
1 The identification of new genes causal for Parkinsons disease
2 The identification of new mutations in known genes
Primary Outcome Measures for Specific Aim 2 are
1 The discovery of gene variants which confer risk for Parkinsons disease
2 The validation of already reported polymorphisms as risk factors for PD
Secondary Outcome Measures both Specific Aims 1 and 2 Genotypephenotype correlations for specific genetic forms of Parkinsons 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
Objective The goal of this protocol will be to contribute to the genetic understanding of Parkinsons disease Clinical data will be collected in order to document the features of Parkinsons disease in affected individuals phenotyping Genetic characterization will be undertaken for the discovery of specific genes which cause or contribute to the risk for Parkinsons 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 Parkinsons disease and their family members towards Specific Aim 1 Specific Aim 2 will involve evaluation of individuals with apparent sporadic Parkinsons disease and also healthy adult volunteers who will be recruited as control subjects
Outcome Measures
Primary Outcome Measures for Specific Aim 1 are
1 The identification of new genes causal for Parkinsons disease
2 The identification of new mutations in known genes
Primary Outcome Measures for Specific Aim 2 are
1 The discovery of gene variants which confer risk for Parkinsons disease
2 The validation of already reported polymorphisms as risk factors for PD
Secondary Outcome Measures both Specific Aims 1 and 2 Genotypephenotype correlations for specific genetic forms of Parkinsons 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 Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| 05-N-0115 | None | None | None |