Identification, Prevalence, and Lifespan of Rapid-Onset Dystonia-Parkinsonism
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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 |
- RDP Severity [ Time Frame: Visit 1 ] [ Designated as safety issue: No ]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 2 ] [ Designated as safety issue: No ]Psychiatric interview and cognitive assessment will be performed to examine presence or absence of symptoms.
Biospecimen Retention: Samples With DNA
whole blood, tissue (saliva samples)
| Estimated Enrollment: | 130 |
| Study Start Date: | April 2008 |
| Estimated Study Completion Date: | March 2020 |
| Estimated Primary Completion Date: | March 2020 (Final data collection date for primary outcome measure) |
| Groups/Cohorts |
|---|
|
RDP
Those with RDP, unaffected gene carriers, 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 |
| Genders Eligible for Study: | Both |
| Accepts Healthy Volunteers: | No |
| Sampling Method: | Non-Probability Sample |
Selection will take place predominantly via primary care clinics, i.e., physician referrals when patients present with a movement disorder suspicious for RDP.
Inclusion Criteria:
- clinical presentation consistent with RDP or confirmed diagnosis of RDP
Contacts and LocationsPlease refer to this study by its ClinicalTrials.gov identifier: NCT00682513
| Contact: Jared F Cook, MA | 336-716-9007 | jarcook@wakehealth.edu |
| 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 | |
| Principal Investigator: | Allison Brashear, MD | Professor and Chair, Department of Neurology, Wake Forest University Health Sciences |
More Information
Additional Information:
No publications provided by Wake Forest School of Medicine
Additional 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: | 5 R01NS058949-04, BG05-556, 1R01NS058949-01A1, IRB00007686 |
| Study First Received: | May 20, 2008 |
| Last Updated: | December 8, 2014 |
| Health Authority: | United States: Federal Government United States: Institutional Review Board |
Keywords provided by Wake Forest School of Medicine:
|
dystonia parkinsonism rapid-onset dystonia-parkinsonism RDP |
Additional relevant MeSH terms:
|
Dystonia Parkinsonian Disorders Basal Ganglia Diseases Brain Diseases Central Nervous System Diseases |
Dyskinesias Movement Disorders Nervous System Diseases Neurologic Manifestations Signs and Symptoms |
ClinicalTrials.gov processed this record on February 27, 2015