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 23, 2021
|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.
The study involves in-person or remote (telemedicine) neurological assessments 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 :||March 31, 2021|
|Estimated Study Completion Date :||March 31, 2021|
Those with RDP, AHC, unaffected carriers of ATP1A3 mutations, and non-carrying family members
- RDP Severity [ Time Frame: Visit 1 (baseline) ]History of symptom onset and duration will be obtained and current degree of severity assessed.
- Presence of neuropsychiatric disease [ Time Frame: Will be assessed at Visits 1 (baseline) and 2 (24 months), approximately 2 years apart ]Psychiatric interview and cognitive assessment will be performed to examine presence or absence of symptoms.
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, California|
|University of Californioa, Davis|
|Sacramento, California, United States, 95817|
|United States, Florida|
|University of Miami|
|Miami, Florida, United States, 33136|
|Principal Investigator:||Allison Brashear, MD||Dean, University of California, Davis School of Medicine|