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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 : January 31, 2018
Sponsor:
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Institute of Neurological Disorders and Stroke (NINDS) )

Brief Summary:
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.

Condition or disease
Movement Disorder

Detailed Description:

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.


Study Type : Observational
Estimated Enrollment : 1500 participants
Observational Model: Family-Based
Time Perspective: Prospective
Official Title: Phenotype/Genotype Correlations in Movement Disorders
Study Start Date : July 6, 2001

Resource links provided by the National Library of Medicine

U.S. FDA Resources




Primary Outcome Measures :
  1. Correlation between the genotype and phenotype in movement disorders. [ Time Frame: 10 Years ]


Information from the National Library of Medicine

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Ages Eligible for Study:   2 Years and older   (Child, Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
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

Information from the National Library of Medicine

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


Contacts
Contact: Elaine P Considine, R.N. (301) 435-8518 considinee@ninds.nih.gov
Contact: Mark Hallett, M.D. (301) 496-9526 hallettm@ninds.nih.gov

Locations
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    prpl@mail.cc.nih.gov   
Sponsors and Collaborators
National Institute of Neurological Disorders and Stroke (NINDS)
Investigators
Principal Investigator: Mark Hallett, M.D. National Institute of Neurological Disorders and Stroke (NINDS)

Additional Information:
Publications:
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Lander ES, Linton LM, Birren B, Nusbaum C, Zody MC, Baldwin J, Devon K, Dewar K, Doyle M, FitzHugh W, Funke R, Gage D, Harris K, Heaford A, Howland J, Kann L, Lehoczky J, LeVine R, McEwan P, McKernan K, Meldrim J, Mesirov JP, Miranda C, Morris W, Naylor J, Raymond C, Rosetti M, Santos R, Sheridan A, Sougnez C, Stange-Thomann Y, Stojanovic N, Subramanian A, Wyman D, Rogers J, Sulston J, Ainscough R, Beck S, Bentley D, Burton J, Clee C, Carter N, Coulson A, Deadman R, Deloukas P, Dunham A, Dunham I, Durbin R, French L, Grafham D, Gregory S, Hubbard T, Humphray S, Hunt A, Jones M, Lloyd C, McMurray A, Matthews L, Mercer S, Milne S, Mullikin JC, Mungall A, Plumb R, Ross M, Shownkeen R, Sims S, Waterston RH, Wilson RK, Hillier LW, McPherson JD, Marra MA, Mardis ER, Fulton LA, Chinwalla AT, Pepin KH, Gish WR, Chissoe SL, Wendl MC, Delehaunty KD, Miner TL, Delehaunty A, Kramer JB, Cook LL, Fulton RS, Johnson DL, Minx PJ, Clifton SW, Hawkins T, Branscomb E, Predki P, Richardson P, Wenning S, Slezak T, Doggett N, Cheng JF, Olsen A, Lucas S, Elkin C, Uberbacher E, Frazier M, Gibbs RA, Muzny DM, Scherer SE, Bouck JB, Sodergren EJ, Worley KC, Rives CM, Gorrell JH, Metzker ML, Naylor SL, Kucherlapati RS, Nelson DL, Weinstock GM, Sakaki Y, Fujiyama A, Hattori M, Yada T, Toyoda A, Itoh T, Kawagoe C, Watanabe H, Totoki Y, Taylor T, Weissenbach J, Heilig R, Saurin W, Artiguenave F, Brottier P, Bruls T, Pelletier E, Robert C, Wincker P, Smith DR, Doucette-Stamm L, Rubenfield M, Weinstock K, Lee HM, Dubois J, Rosenthal A, Platzer M, Nyakatura G, Taudien S, Rump A, Yang H, Yu J, Wang J, Huang G, Gu J, Hood L, Rowen L, Madan A, Qin S, Davis RW, Federspiel NA, Abola AP, Proctor MJ, Myers RM, Schmutz J, Dickson M, Grimwood J, Cox DR, Olson MV, Kaul R, Raymond C, Shimizu N, Kawasaki K, Minoshima S, Evans GA, Athanasiou M, Schultz R, Roe BA, Chen F, Pan H, Ramser J, Lehrach H, Reinhardt R, McCombie WR, de la Bastide M, Dedhia N, Blöcker H, Hornischer K, Nordsiek G, Agarwala R, Aravind L, Bailey JA, Bateman A, Batzoglou S, Birney E, Bork P, Brown DG, Burge CB, Cerutti L, Chen HC, Church D, Clamp M, Copley RR, Doerks T, Eddy SR, Eichler EE, Furey TS, Galagan J, Gilbert JG, Harmon C, Hayashizaki Y, Haussler D, Hermjakob H, Hokamp K, Jang W, Johnson LS, Jones TA, Kasif S, Kaspryzk A, Kennedy S, Kent WJ, Kitts P, Koonin EV, Korf I, Kulp D, Lancet D, Lowe TM, McLysaght A, Mikkelsen T, Moran JV, Mulder N, Pollara VJ, Ponting CP, Schuler G, Schultz J, Slater G, Smit AF, Stupka E, Szustakowki J, Thierry-Mieg D, Thierry-Mieg J, Wagner L, Wallis J, Wheeler R, Williams A, Wolf YI, Wolfe KH, Yang SP, Yeh RF, Collins F, Guyer MS, Peterson J, Felsenfeld A, Wetterstrand KA, Patrinos A, Morgan MJ, de Jong P, Catanese JJ, Osoegawa K, Shizuya H, Choi S, Chen YJ, Szustakowki J; International Human Genome Sequencing Consortium. Initial sequencing and analysis of the human genome. Nature. 2001 Feb 15;409(6822):860-921. Erratum in: Nature 2001 Jun 7;411(6838):720. Szustakowki, J [corrected to Szustakowski, J]. Nature 2001 Aug 2;412(6846):565.

Responsible Party: National Institute of Neurological Disorders and Stroke (NINDS)
ClinicalTrials.gov Identifier: NCT00018889     History of Changes
Other Study ID Numbers: 010206
01-N-0206
First Posted: July 9, 2001    Key Record Dates
Last Update Posted: January 31, 2018
Last Verified: January 29, 2018

Keywords provided by National Institutes of Health Clinical Center (CC) ( National Institute of Neurological Disorders and Stroke (NINDS) ):
Clinical Evaluation
Genetic Study
Essential Tremor
Familial Myoclonus
Hereditary Ataxia
Movement Disorder
Inherited Movement Disorder

Additional relevant MeSH terms:
Disease
Movement Disorders
Pathologic Processes
Central Nervous System Diseases
Nervous System Diseases