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Studies of the Variable Phenotypic Presentations of Rapid-Onset Dystonia Parkinsonism and Other Movement Disorders
This study is currently recruiting participants.
Verified October 2016 by Allison Brashear, Wake Forest School of Medicine
Sponsor:
Wake Forest University Health Sciences
Collaborator:
National Institute of Neurological Disorders and Stroke (NINDS)
Information provided by (Responsible Party):
Allison Brashear, Wake Forest School of Medicine
ClinicalTrials.gov Identifier:
NCT00682513
First received: May 20, 2008
Last updated: October 31, 2016
Last verified: October 2016
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Purpose
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 |
|---|
| Dystonia Parkinsonism |
| Study Type: | Observational |
| Study Design: | Observational Model: Family-Based Time Perspective: Prospective |
| Official Title: | Clinical, Genetic, and Cellular Consequences of Mutations in the NA,K-ATPase ATP1A3 |
Resource links provided by NLM:
Genetics Home Reference related topics:
Perry syndrome
dopa-responsive dystonia
early-onset primary dystonia
rapid-onset dystonia parkinsonism
MedlinePlus related topics:
Dystonia
Genetic and Rare Diseases Information Center resources:
Hemiplegia
Alternating Hemiplegia of Childhood
Rapid-onset Dystonia-parkinsonism
U.S. FDA Resources
Further study details as provided by Allison Brashear, Wake Forest School of Medicine:
Primary Outcome Measures:
- 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:
- 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
whole blood, tissue (saliva samples)
| Estimated Enrollment: | 130 |
| Study Start Date: | April 2008 |
| Estimated Study Completion Date: | April 2020 |
| Estimated Primary Completion Date: | April 2020 (Final data collection date for primary outcome measure) |
| Groups/Cohorts |
|---|
|
ATP1A3 Mutation
Those with RDP, AHC, unaffected carriers of ATP1A3 mutations, and non-carrying family members
|
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.
Eligibility| 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
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study.
To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below.
For general information, see Learn About Clinical Studies.
Please refer to this study by its ClinicalTrials.gov identifier: NCT00682513
Please refer to this study by its ClinicalTrials.gov identifier: 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: | Allison Brashear, Principle Investigator, Professor and Chair, Wake Forest School of Medicine |
| 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 ) |
| Study First Received: | May 20, 2008 |
| Last Updated: | October 31, 2016 |
| Individual Participant Data (IPD) Sharing Statement: | |
| Plan to Share IPD: | No |
Keywords provided by Allison Brashear, Wake Forest School of Medicine:
|
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 |
ClinicalTrials.gov processed this record on August 22, 2017