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

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational

Official Title: Clinical, Genetic, and Cellular Consequences of Mutations in the NA,K-ATPase ATP1A3

Brief Summary: 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.

Detailed Summary:

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.


Sponsor: Wake Forest University Health Sciences

Current Primary Outcome: 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.


Original Primary Outcome: RDP phenotype [ Time Frame: any length of time to onset of dystonic symptoms ]

Current Secondary Outcome:

  • 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).


Original Secondary Outcome:

Information By: Wake Forest University Health Sciences

Dates:
Date Received: May 20, 2008
Date Started: April 2008
Date Completion: April 2020
Last Updated: October 31, 2016
Last Verified: October 2016