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 : Active, not recruiting
First Posted : May 22, 2008
Last Update Posted : February 12, 2020
|Condition or disease|
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.
|Study Type :||Observational|
|Estimated Enrollment :||198 participants|
|Official Title:||Clinical, Genetic, and Cellular Consequences of Mutations in the NA,K-ATPase ATP1A3|
|Study Start Date :||April 2008|
|Estimated Primary Completion Date :||April 2020|
|Estimated Study Completion Date :||April 2020|
Those with RDP, AHC, CP, unaffected carriers of ATP1A3 mutations, and non-carrying family members
- 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.
- 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).
Biospecimen Retention: Samples With DNA
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): NCT00682513
|United States, North Carolina|
|Wake Forest University Health Sciences|
|Winston-Salem, North Carolina, United States, 27157-1043|
|Principal Investigator:||Allison Brashear, MD||Professor and Chair, Department of Neurology, Wake Forest University Health Sciences|