Ignite Creation Date:
2024-05-05 @ 11:07 AM
Last Modification Date:
2024-10-26 @ 9:02 AM
Study NCT ID:
NCT00001640
Status:
COMPLETED
Last Update Posted:
2017-07-02
First Post:
1999-11-03
Brief Title:
Genetic Analysis of Parkinsons Disease
Sponsor:
National Human Genome Research Institute NHGRI
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
Genetic Analysis of Parkinsons Disease
Status:
COMPLETED
Status Verified Date:
2009-02-10
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:
The purposes of this study are to identify the gene or genes responsible for an inherited form of Parkinsons disease and learn more about how the disease develops
In Parkinsons disease a deficiency of a brain chemical called dopamine impairs the function of the part of the brain that controls movement As a result patients may have difficulty moving or they may have uncontrolled movements of their hands and fingers Parkinsons disease usually occurs sporadically with no known cause In a few families however the disease seems to be inherited through a gene mutation change There is a 50-50 chance that a parent with the mutated gene will pass it on to a child Children who do inherit the abnormal gene may or may not go on to actually develop Parkinsons disease-the relative chance of this happening is not known
Individuals 18 years of age and older from families in which Parkinsons disease appears to be inherited may be eligible for this study Participants will have a brief medical examination provide a personal and family medical history and have a small blood sample 2 tablespoons taken for genetic studies The total time required for the study is about 1 to 2 hours
Participants are encouraged to meet with a NIH investigator or with a genetics specialist in their local area before testing to talk about the possible implications for themselves and their families of the test results
In Parkinsons disease a deficiency of a brain chemical called dopamine impairs the function of the part of the brain that controls movement As a result patients may have difficulty moving or they may have uncontrolled movements of their hands and fingers Parkinsons disease usually occurs sporadically with no known cause In a few families however the disease seems to be inherited through a gene mutation change There is a 50-50 chance that a parent with the mutated gene will pass it on to a child Children who do inherit the abnormal gene may or may not go on to actually develop Parkinsons disease-the relative chance of this happening is not known
Individuals 18 years of age and older from families in which Parkinsons disease appears to be inherited may be eligible for this study Participants will have a brief medical examination provide a personal and family medical history and have a small blood sample 2 tablespoons taken for genetic studies The total time required for the study is about 1 to 2 hours
Participants are encouraged to meet with a NIH investigator or with a genetics specialist in their local area before testing to talk about the possible implications for themselves and their families of the test results
Detailed Description:
Individuals and where possible multiple family members from families with inherited Parkinsons disease will be enrolled We will also be enrolling people with sporadic Parkinsons disease Known disease genes will be sequenced to look for mutations In the event that no mutations are detected and there are samples from multiple family members linkage analysis will be undertaken in an effort to identify a region or regions of the genome harboring defective genes that cause inherited Parkinsons disease Candidate genes that reside in regions linked to the disease will be sequenced in effort to find mutations responsible for the disease
Genetic linkage studies will include all available informative family members while gene sequence analysis will be performed on affected individuals and spousal controls In the event that we identify a mutation of clear pathogenicity in one of the known Parkinsons genes we will contact all participating family members to notify them of the discovery of the gene that causes PD in their family and offer them individual counseling and testing in a CLIA approved lab To assess any impact caused by the offer and subsequent pursuit of genetic testing we will be administering a questionnaire assessing psychological well-being prior to and following testing
Genetic linkage studies will include all available informative family members while gene sequence analysis will be performed on affected individuals and spousal controls In the event that we identify a mutation of clear pathogenicity in one of the known Parkinsons genes we will contact all participating family members to notify them of the discovery of the gene that causes PD in their family and offer them individual counseling and testing in a CLIA approved lab To assess any impact caused by the offer and subsequent pursuit of genetic testing we will be administering a questionnaire assessing psychological well-being prior to and following testing
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 |
|---|---|---|---|
| 97-HG-0078 | None | None | None |