Genetic Characterization of Parkinson's Disease - Full Text View

Purpose

This study will explore the risks and causes of Parkinson's disease, a chronic progressive nervous system disorder. Patients typically have tremors, muscle weakness and a shuffling gait.

Patients with Parkinson's 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 Parkinson's 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 Parkinson's 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.

Condition
Parkinson Disease PD Movement Disorder Healthy Volunteer HV

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

Resource links provided by NLM:

Genetics Home Reference related topics: Parkinson disease Perry syndrome

MedlinePlus related topics: Movement Disorders Neurologic Diseases Parkinson's Disease Tremor

U.S. FDA Resources

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

Estimated Enrollment:	2500
Study Start Date:	March 2005
Estimated Study Completion Date:	November 2005

Detailed Description:

Parkinson's disease (PD) was noted to have a familial component as early as 1880. More recently, the discovery of several genetic factors influencing Parkinson's disease has emphasized the importance of heredity in PD.

Objective: The goal of this protocol will be to contribute to the genetic understanding of Parkinson's disease. Clinical data will be collected in order to document the features of Parkinson's disease in affected individuals (phenotyping). Genetic characterization will be undertaken for the discovery of specific genes which cause or contribute to the risk for Parkinson's 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 Parkinson's disease and their family members towards Specific Aim 1. Specific Aim 2 will involve evaluation of individuals with apparent sporadic Parkinson's disease, and also, healthy adult volunteers who will be recruited as control subjects.

Outcome Measures:

Primary Outcome Measures for Specific Aim 1 are:

The identification of new genes causal for Parkinson's disease.
The identification of new mutations in known genes.

Primary Outcome Measures for Specific Aim 2 are:

The discovery of gene variants which confer risk for Parkinson's disease.
The validation of already reported polymorphisms as risk factors for PD.

Secondary Outcome Measures (both Specific Aims 1 and 2): Genotype/phenotype correlations for specific genetic forms of Parkinson's 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.

Eligibility

Genders Eligible for Study:	Both
Accepts Healthy Volunteers:	Yes

Criteria

INCLUSION CRITERIA:

Individuals with Parkinson's disease OR

Family members of an individual diagnosed with Parkinson's disease OR

Healthy adult controls obtained through the NIH Clinical Research Volunteers Program (CVRP) or other healthy control volunteers who come forward.

EXCLUSION CRITERIA:

Under the age of 18 years of age OR

Individuals with Parkinsonism secondary to a specific cause such as toxin exposure, birth injury, head injury, or brain infection such as encephalitis.

Healthy volunteers with a medical history or first degree family history of Parkinson's disease.

Contacts and Locations

Please refer to this study by its ClinicalTrials.gov identifier: NCT00105131

Locations

United States, Maryland
National Institute of Neurological Disorders and Stroke (NINDS)
Bethesda, Maryland, United States, 20892

Sponsors and Collaborators

National Institute of Neurological Disorders and Stroke (NINDS)

More Information

Publications:

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.

Kitada T, Asakawa S, Hattori N, Matsumine H, Yamamura Y, Minoshima S, Yokochi M, Mizuno Y, Shimizu N. Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. Nature. 1998 Apr 9;392(6676):605-8.

Bonifati V, Rizzu P, van Baren MJ, Schaap O, Breedveld GJ, Krieger E, Dekker MC, Squitieri F, Ibanez P, Joosse M, van Dongen JW, Vanacore N, van Swieten JC, Brice A, Meco G, van Duijn CM, Oostra BA, Heutink P. Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism. Science. 2003 Jan 10;299(5604):256-9. Epub 2002 Nov 21.

ClinicalTrials.gov Identifier:	NCT00105131 History of Changes
Other Study ID Numbers:	050115, 05-N-0115
Study First Received:	March 5, 2005
Last Updated:	March 3, 2008
Health Authority:	United States: Federal Government

Keywords provided by National Institutes of Health Clinical Center (CC):

Parkinson's Disease
Movement Disorders
Tremor
Alpha-Synuclein
Lewy Bodies

Parkinson Disease
PD
Movement Disorder
Healthy Volunteer
HV

Additional relevant MeSH terms:

Movement Disorders
Parkinson Disease
Central Nervous System Diseases
Nervous System Diseases

Parkinsonian Disorders
Basal Ganglia Diseases
Brain Diseases
Neurodegenerative Diseases

ClinicalTrials.gov processed this record on May 23, 2013