Trial record 10 of 19 for:    genetics AND Parkinson's disease

Genetic Analysis of Parkinson's Disease

This study has been completed.
Sponsor:
Information provided by:
National Institutes of Health Clinical Center (CC)
ClinicalTrials.gov Identifier:
NCT00001640
First received: November 3, 1999
Last updated: February 12, 2009
Last verified: February 2009
  Purpose

The purposes of this study are to identify the gene or genes responsible for an inherited form of Parkinson's disease and learn more about how the disease develops.

In Parkinson's 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. Parkinson's 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 Parkinson's disease-the relative chance of this happening is not known.

Individuals 18 years of age and older from families in which Parkinson's 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....


Condition
Parkinson's Disease

Study Type: Observational
Official Title: Genetic Analysis of Parkinson's Disease

Resource links provided by NLM:


Further study details as provided by National Institutes of Health Clinical Center (CC):

Estimated Enrollment: 500
Study Start Date: February 1997
Estimated Study Completion Date: February 2009
Detailed Description:

Individuals, and where possible multiple family members, from families with inherited Parkinson's disease will be enrolled. We will also be enrolling people with sporadic Parkinson's 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 Parkinson's 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 Parkinson's 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.

  Eligibility

Ages Eligible for Study:   18 Years and older
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Criteria
  • INCLUSION CRITERIA:

Individuals age 18 or over from families in which an autosomal dominant form of Parkinson's disease is apparently being inherited.

The diagnosis must be supported by accepted clinical criteria: tremor, bradykinesia, and responsiveness to L-DOPA.

Unaffected family members will also be enrolled.

Subjects must give consent.

Parkinson's disease may be associated with dementia.

Decisionally-impaired individuals will be enrolled.

  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT00001640

Locations
United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States, 20892
Sponsors and Collaborators
  More Information

Publications:
ClinicalTrials.gov Identifier: NCT00001640     History of Changes
Other Study ID Numbers: 970078, 97-HG-0078
Study First Received: November 3, 1999
Last Updated: February 12, 2009
Health Authority: United States: Federal Government

Keywords provided by National Institutes of Health Clinical Center (CC):
Parkinson's Disease

Additional relevant MeSH terms:
Parkinson Disease
Parkinsonian Disorders
Basal Ganglia Diseases
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Movement Disorders
Neurodegenerative Diseases

ClinicalTrials.gov processed this record on August 21, 2014