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| Sponsors and Collaborators: |
Wake Forest University National Institute of Neurological Disorders and Stroke (NINDS) |
|---|---|
| Information provided by: | Wake Forest University |
| ClinicalTrials.gov Identifier: | NCT00682513 |
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: | Family-Based, Prospective |
| Official Title: | Longitudinal Studies of the Identification, Prevalence and the Lifespan of Rapid-Onset Dystonia-Parkinsonism and Other Movement Disorders |
whole blood, tissue (saliva samples)
| Estimated Enrollment: | 100 |
| Study Start Date: | April 2008 |
| Estimated Study Completion Date: | March 2012 |
| Estimated Primary Completion Date: | March 2012 (Final data collection date for primary outcome measure) |
| Groups/Cohorts |
|---|
|
RDP
Those with RDP, unaffected gene carriers, and non-carrying family members
|
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: | 6 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:
Exclusion Criteria:
Contacts and Locations| Contact: Deborah F. Hill, MA | 336-716-5418 | dfhill@wfubmc.edu |
| Contact: Allison Brashear, MD | abrashea@wfubmc.edu |
| United States, North Carolina | |
| Wake Forest University Health Sciences | Recruiting |
| Winston-Salem, North Carolina, United States, 27157-1043 | |
| Contact: Deborah F. Hill, MA 336-716-5418 dfhill@wfubmc.edu | |
| Principal Investigator: Allison Brashear, MD | |
| Principal Investigator: | Allison Brashear, MD | Professor and Chair, Department of Neurology, Wake Forest University Health Sciences |
More Information
| Responsible Party: | Wake Forest University Health Sciences ( Allison Brashear, Professor and Chair, Department of Neurology ) |
| Study ID Numbers: | R01NS058949, BG05-556, 1R01NS058949-01A1, IRB00007686 |
| Study First Received: | May 20, 2008 |
| Last Updated: | June 8, 2009 |
| ClinicalTrials.gov Identifier: | NCT00682513 History of Changes |
| Health Authority: | United States: Federal Government; United States: Institutional Review Board |
|
dystonia parkinsonism rapid-onset dystonia-parkinsonism RDP |
|
Dystonic Disorders Signs and Symptoms Ganglion Cysts Dystonia 12 Movement Disorders Basal Ganglia Diseases |
Central Nervous System Diseases Neurologic Manifestations Dystonia Parkinsonian Disorders Brain Diseases Dyskinesias |
|
Dystonic Disorders Signs and Symptoms Movement Disorders Basal Ganglia Diseases Nervous System Diseases Central Nervous System Diseases |
Neurologic Manifestations Dystonia Parkinsonian Disorders Brain Diseases Dyskinesias |
