Ignite Creation Date:
2024-05-05 @ 11:19 AM
Last Modification Date:
2024-10-26 @ 9:02 AM
Study NCT ID:
NCT00001643
Status:
COMPLETED
Last Update Posted:
2017-07-02
First Post:
1999-11-03
Brief Title:
Gene Analysis of Parkinsons Disease
Sponsor:
National Human Genome Research Institute NHGRI
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
Gene Analysis in Parkinsons Disease
Status:
COMPLETED
Status Verified Date:
2009-08-31
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 their medical records reviewed provide a personal and family medical history by telephone or in person 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 their medical records reviewed provide a personal and family medical history by telephone or in person 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:
Mutational analysis in patients with Parkinsons disease and a positive family history will be undertaken in an effort to identify and better understand the function of defective genes that cause Parkinsons disease in these individuals DNA from these individuals is an important resource for screening candidate genes for mutations for confirming that genes identified by other approaches are altered in patients and for defining the mutational spectrum in these genes genotypephenotype correlation
Unrelated anonymous normal individuals will serve as controls for sequence comparisons Information about genotypes will not be communicated back to the individuals as part of this study While mutational analysis will continue no further participants will be recruited to this study
Unrelated anonymous normal individuals will serve as controls for sequence comparisons Information about genotypes will not be communicated back to the individuals as part of this study While mutational analysis will continue no further participants will be recruited to this study
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-0173 | None | None | None |