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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 : November 6, 2017
Sponsor:
Collaborator:
Information provided by (Responsible Party):

Study Description
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.

Condition or disease
Dystonia Parkinsonism

Detailed Description:

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 Design

Study Type : Observational
Estimated Enrollment : 130 participants
Observational Model: Family-Based
Time Perspective: Prospective
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


Groups and Cohorts

Group/Cohort
ATP1A3 Mutation
Those with RDP, AHC, unaffected carriers of ATP1A3 mutations, and non-carrying family members


Outcome Measures

Primary Outcome Measures :
  1. 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.


Secondary Outcome Measures :
  1. Presence of neuropsychiatric disease [ Time Frame: Visit 1 ]
    Psychiatric interview and cognitive assessment will be performed to examine presence or absence of symptoms.

  2. 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
whole blood, tissue (saliva samples)

Eligibility Criteria

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
Sampling Method:   Non-Probability Sample
Study Population
Selection will take place predominantly via primary care clinics, i.e., physician referrals when patients present with a movement disorder suspicious for RDP.
Criteria

Inclusion Criteria:

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

Exclusion Criteria:

Contacts and Locations

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): NCT00682513


Contacts
Contact: Jared F Cook, MA 336-716-9007 jarcook@wakehealth.edu

Locations
United States, North Carolina
Wake Forest University Health Sciences Recruiting
Winston-Salem, North Carolina, United States, 27157-1043
Contact: Jared F Cook, MA    336-716-9007    jarcook@wakehealth.edu   
Principal Investigator: Allison Brashear, MD         
Sponsors and Collaborators
Wake Forest University Health Sciences
National Institute of Neurological Disorders and Stroke (NINDS)
Investigators
Principal Investigator: Allison Brashear, MD Professor and Chair, Department of Neurology, Wake Forest University Health Sciences
More Information

Additional Information:
Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
Responsible Party: Wake Forest University Health Sciences
ClinicalTrials.gov Identifier: NCT00682513     History of Changes
Other Study ID Numbers: 5R01NS058949-04 ( U.S. NIH Grant/Contract )
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 )
First Posted: May 22, 2008    Key Record Dates
Last Update Posted: November 6, 2017
Last Verified: October 2017
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

Keywords provided by Wake Forest University Health Sciences:
dystonia
parkinsonism
rapid-onset dystonia-parkinsonism
RDP
Alternating Hemiplegia of Childhood
AHC

Additional relevant MeSH terms:
Dystonia
Dystonic Disorders
Parkinsonian Disorders
Dyskinesias
Neurologic Manifestations
Nervous System Diseases
Signs and Symptoms
Movement Disorders
Central Nervous System Diseases
Basal Ganglia Diseases
Brain Diseases