NCT00001643

Brief Summary

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 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....

Trial Health

80
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
320

participants targeted

Target at P75+ for all trials

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

August 29, 1997

Completed
2.2 years until next milestone

First Submitted

Initial submission to the registry

November 3, 1999

Completed
1 day until next milestone

First Posted

Study publicly available on registry

November 4, 1999

Completed
9.8 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

August 31, 2009

Completed
Last Updated

July 2, 2017

Status Verified

August 31, 2009

Enrollment Period

12 years

First QC Date

November 3, 1999

Last Update Submit

June 30, 2017

Conditions

Parkinson's Disease

Keywords

Lewy BodyMutationHereditaryDominantSporadicParkinson's Disease

Eligibility Criteria

Age18 Years+
Sexall
Healthy VolunteersNo
Age GroupsAdult (18-64), Older Adult (65+)

You may qualify if:

  • Individuals over the age of 18 from families in which there are three or more individuals affected with Parkinson's disease (within three generations) and the proband was the only affected person available or willing to participate in the study
  • The diagnosis must be supported by accepted clinical criteria: tremor, bradykinesia, and responsiveness to L-DOPA.
  • PD may be associated with dementia. The study will lose power if individuals with mental impairment and PD are excluded. For this reason, decisionally-impaired individuals will be enrolled.

You may not qualify if:

  • No one under 18 will be enrolled because, with the exception of the rare autosomal recessive PD due to parkin mutations, PD does not affect minors. Study design does not involve testing fetuses.

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

National Institutes of Health Clinical Center, 9000 Rockville Pike

Bethesda, Maryland, 20892, United States

Location

Related Publications (3)

  • Polymeropoulos MH, Lavedan C, Leroy E, Ide SE, Dehejia A, Dutra A, Pike B, Root H, Rubenstein J, Boyer R, Stenroos ES, Chandrasekharappa S, Athanassiadou A, Papapetropoulos T, Johnson WG, Lazzarini AM, Duvoisin RC, Di Iorio G, Golbe LI, Nussbaum RL. Mutation in the alpha-synuclein gene identified in families with Parkinson's disease. Science. 1997 Jun 27;276(5321):2045-7. doi: 10.1126/science.276.5321.2045.

    PMID: 9197268BACKGROUND

  • Polymeropoulos MH, Higgins JJ, Golbe LI, Johnson WG, Ide SE, Di Iorio G, Sanges G, Stenroos ES, Pho LT, Schaffer AA, Lazzarini AM, Nussbaum RL, Duvoisin RC. Mapping of a gene for Parkinson's disease to chromosome 4q21-q23. Science. 1996 Nov 15;274(5290):1197-9. doi: 10.1126/science.274.5290.1197.

    PMID: 8895469BACKGROUND

  • Eldridge R, Ince SE. The low concordance rate for Parkinson's disease in twins: a possible explanation. Neurology. 1984 Oct;34(10):1354-6. doi: 10.1212/wnl.34.10.1354. No abstract available.

    PMID: 6541307BACKGROUND

MeSH Terms

Conditions

Parkinson Disease

Condition Hierarchy (Ancestors)

Parkinsonian DisordersBasal Ganglia DiseasesBrain DiseasesCentral Nervous System DiseasesNervous System DiseasesMovement DisordersSynucleinopathiesNeurodegenerative Diseases

Study Design

Study Type
observational
Sponsor Type
NIH

Study Record Dates

First Submitted

November 3, 1999

First Posted

November 4, 1999

Study Start

August 29, 1997

Primary Completion

August 31, 2009

Last Updated

July 2, 2017

Record last verified: 2009-08-31

Locations

US(1)