Phenotype/Genotype Correlations in Movement Disorders
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|ClinicalTrials.gov Identifier: NCT00018889|
Recruitment Status : Recruiting
First Posted : July 9, 2001
Last Update Posted : February 6, 2020
|Condition or disease|
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, the plan is 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.
The study 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, validation of the NIH Toolbox Odor Identification Test (NIHOIT) against the standard University of Pennsylvania Smell Identification Test (UPSIT) in patients with Parkinson's Disease will be analyzed.
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.
|Study Type :||Observational|
|Estimated Enrollment :||2500 participants|
|Official Title:||Phenotype/Genotype Correlations in Movement Disorders|
|Actual Study Start Date :||October 22, 2001|
- Correlation between the genotype and phenotype in movement disorders. [ Time Frame: 10 Years ]Characterizations to determine their eligibility for inclusion in other NIH protocols.
- Identification clinical correlations between phenotype and genotype
- Identification of new genes and /or peripheral blood biomarkers associated with movement disorders.
- Identification of new genes through newer techniques such as whole exome and whole genome to identify the genetic cause of a neurologic condition in an individual or family.
- Identification of specific peripheral blood biomarkers in plasma of patients with or without PD that would improve the diagnostic accuracy, especially in subjects at risk of developing the disorder in the future
- Identification of disease specific biomarkers in stem cells derived from patient peripheral blood mononuclear cells or fibroblast lines.
- Identification of peripheral alpha-synuclein via histology of skin biopsies
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00018889
|Contact: Mae Brooks||(301) email@example.com|
|Contact: Debra J Ehrlich, M.D.||(301) firstname.lastname@example.org|
|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 Office of Patient Recruitment (OPR) 800-411-1222 ext TTY8664111010 email@example.com|
|Principal Investigator:||Debra J Ehrlich, M.D.||National Institute of Neurological Disorders and Stroke (NINDS)|