Bethesda, Maryland 20892


Purpose:

The goal of this protocol is to identify families with inherited movement disorders and evaluate disease manifestations to establish an accurate clinical diagnosis by using newest technological advances and investigate the underlying molecular mechanisms. Studies of inherited movement disorders in large families with good genealogical records are especially valuable. 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 responsible for a specific disorder.


Study summary:

Objective: 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. Study population: 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. Design: 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. Outcome measures: 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.


Criteria:

- INCLUSION CRITERIA: Individuals with known or suspected inherited movement disorders. Family members of movement disorders patients EXCLUSION CRITERIA: Pregnant women will be excluded from MRI or X-ray studies Children less than 2 years of age Those who cannot provide their own consent or appoint a Durable Power of Attorney (DPA). Exclusion criteria for MRI - Presence of metal in subject's body which would make having an MRI scan unsafe, such as pacemakers, stimulators, pumps, aneurysm clips, metallic prostheses, artificial heart valves, cochlear implants, shrapnel fragments, or if subject was a welder or metal worker (since small metal fragments in the eye may be present). - Subject is uncomfortable in small closed spaces (have claustrophobia) so that they would feel uncomfortable in the MRI machine. - Unable to lie comfortably on back for up to 1 hour. - Are pregnant - Under 12 years of age


NCT ID:

NCT00018889


Primary Contact:

Principal Investigator
Mark Hallett, M.D.
National Institute of Neurological Disorders and Stroke (NINDS)

Elaine P Considine, R.N.
Phone: (301) 435-8518
Email: considinee@ninds.nih.gov


Backup Contact:

Email: hallettm@ninds.nih.gov
Mark Hallett, M.D.
Phone: (301) 496-9526


Location Contact:

Bethesda, Maryland 20892
United States

For more information at the NIH Clinical Center contact Patient Recruitment and Public Liaison Office (PRPL)
Phone: 800-411-1222
Email: prpl@mail.cc.nih.gov

Site Status: Recruiting


Data Source: ClinicalTrials.gov

Date Processed: September 24, 2017

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