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Trial record 38 of 66 for:    Recruiting, Not yet recruiting, Available Studies | "Dystonia"

Studies of the Variable Phenotypic Presentations of Rapid-Onset Dystonia Parkinsonism and Other Movement Disorders

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ClinicalTrials.gov Identifier: NCT00682513
Recruitment Status : Recruiting
First Posted : May 22, 2008
Last Update Posted : July 16, 2018
Sponsor:
Collaborator:
National Institute of Neurological Disorders and Stroke (NINDS)
Information provided by (Responsible Party):
Wake Forest University Health Sciences

May 20, 2008
May 22, 2008
July 16, 2018
April 2008
April 2020   (Final data collection date for primary outcome measure)
RDP Severity [ Time Frame: Visit 1 ]
Only one study visit required. History of symptom onset and duration will be obtained and current degree of severity assessed.
RDP phenotype [ Time Frame: any length of time to onset of dystonic symptoms ]
Complete list of historical versions of study NCT00682513 on ClinicalTrials.gov Archive Site
  • Presence of neuropsychiatric disease [ Time Frame: Visit 1 ]
    Psychiatric interview and cognitive assessment will be performed to examine presence or absence of symptoms.
  • Magnetic Resonance Imaging (MRI) [ Time Frame: Visit 1 ]
    Structural and functional MRI will be performed to characterize components of hypothesized ATP1A3 pathway (cortico-stiato-pallidothalamocortical and cerebello-thalamo-cortical pathways and additional dentatorubral-pallidal and dentate-olivary pathways).
Not Provided
Not Provided
Not Provided
 
Studies of the Variable Phenotypic Presentations of Rapid-Onset Dystonia Parkinsonism and Other Movement Disorders
Clinical, Genetic, and Cellular Consequences of Mutations in the NA,K-ATPase ATP1A3
The purposes of this study are to identify persons with rapid-onset dystonia-parkinsonism (RDP) or mutations of the RDP gene, document prevalence of the disease, and map its natural history.

Rapid-onset dystonia-parkinsonism (RDP) is a rare, movement disorder with variable characteristics ranging from sudden onset (hours to days) of severe dystonic spasms to gradual onset of writer's cramp. RDP has elements of both dystonia and Parkinson's disease—two neurological diseases with motor and neuropsychological symptoms that hinder the quality of life. An internal trigger associated with extreme physiological stress has been reported prior to abrupt symptom onset of RDP.

This study, which is a continuation of an earlier study begun by Dr. Allison Brashear, aims to more clearly identify the characteristics associated with RDP and to explore whether mutations in the RDP gene are associated with atypical dystonias, Parkinson's disease, and other movement disorders.

Physicians from around the world who suspect their patients may have RDP or other movement disorders will send videotaped neurological assessments of their patients and blood samples for genetic analysis.

Observational
Observational Model: Family-Based
Time Perspective: Prospective
Not Provided
Retention:   Samples With DNA
Description:
whole blood, tissue (saliva samples)
Non-Probability Sample
Selection will take place predominantly via primary care clinics, i.e., physician referrals when patients present with a movement disorder suspicious for RDP.
  • Dystonia
  • Parkinsonism
Not Provided
ATP1A3 Mutation
Those with RDP, AHC, unaffected carriers of ATP1A3 mutations, and non-carrying family members

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruiting
130
100
April 2020
April 2020   (Final data collection date for primary outcome measure)

Inclusion Criteria:

  • clinical presentation consistent with ATP1A3 disease (RDP, AHC) or confirmed diagnosis of RDP or AHC

Exclusion Criteria:

Sexes Eligible for Study: All
2 Years and older   (Child, Adult, Older Adult)
No
Contact: Jared F Cook, MA 336-716-9007 jarcook@wakehealth.edu
United States
 
 
NCT00682513
IRB00007686
BG05-556 ( Other Identifier: Wake Forest University School of Medicine )
1R01NS058949-01A1 ( U.S. NIH Grant/Contract )
IRB00007686 ( Other Identifier: Wake Forest University School of Medicine )
No
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Plan to Share IPD: No
Wake Forest University Health Sciences
Wake Forest University Health Sciences
National Institute of Neurological Disorders and Stroke (NINDS)
Principal Investigator: Allison Brashear, MD Professor and Chair, Department of Neurology, Wake Forest University Health Sciences
Wake Forest University Health Sciences
July 2018