Phenotype/Genotype Correlations in Movement Disorders
|Study Design:||Observational Model: Family-Based
Time Perspective: Prospective
|Official Title:||Phenotype/Genotype Correlations in Movement Disorders|
- Correlation between the genotype and phenotype in movement disorders. [ Time Frame: 10 Years ]
|Study Start Date:||July 6, 2001|
The goal of this protocol is to identify families with inherited movement disorders and evaluate disease manifestations to establish an accurate clinical diagnosis, and to investigate the underlying molecular mechanisms. Studies of inherited movement disorders in large families with good genealogical records are especially valuable.
Additionally, we plan to screen subjects with and without Parkinson's disease for the presence of revelant antibodies, such as antibodies targeting tobacco mosaic virus antigens which may have a protective role against the development of the disease or may be related to other pathophysiologic mechanisms.
We will also assess a series of exploratory peripheral blood biomarkers, including, but not limited to, those delineated by DNA, RNA, protein, and/or metabolite alterations in an effort to more accurately predict those with, or at risk of having, the specific neurological disease. Finally, we will seek to validate the NIH Toolbox Odor Identification Test (NIHOIT) against the standard University of Pennsylvania Smell Identification Test (UPSIT) in patients with Parkinson's Disease.
Subjects older than 2 years old with movement disorders and their family members will be enrolled. Patients with diseases of known molecular basis will be genotyped in order to investigate phenotype/genotype correlation. Patients with disease of unknown or incomplete genetic characterization will be studied with a hope of contributing to the identification of specific disease causing genes and genetic mechanisms and/or peripheral biosignatures involved in a particular disorder.
Eligible participants will have an initial medical and/or neurological evaluation at the Clinical Center or in the field, including blood draw for genetic and other biomarker testing.
Determination of phenotype/genotype correlations in specific movement disorders, gene identification if not known, gene expression and protein and metabolite levels, and presence of antibodies in Parkinson's disease and establishment of a clinical diagnosis when possible.
Please refer to this study by its ClinicalTrials.gov identifier: NCT00018889
|Contact: Elaine P Considine, R.N.||(301) firstname.lastname@example.org|
|Contact: Mark Hallett, M.D.||(301) email@example.com|
|United States, Maryland|
|National Institutes of Health Clinical Center, 9000 Rockville Pike||Recruiting|
|Bethesda, Maryland, United States, 20892|
|Contact: For more information at the NIH Clinical Center contact Patient Recruitment and Public Liaison Office (PRPL) 800-411-1222 ext TTY8664111010 firstname.lastname@example.org|
|Principal Investigator:||Mark Hallett, M.D.||National Institute of Neurological Disorders and Stroke (NINDS)|