Studies of the Variable Phenotypic Presentations of Rapid-Onset Dystonia Parkinsonism and Other Movement Disorders
|
The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. |
| ClinicalTrials.gov Identifier: NCT00682513 |
|
Recruitment Status :
Recruiting
First Posted : May 22, 2008
Last Update Posted : November 6, 2017
|
- Study Details
- Tabular View
- No Results Posted
- Disclaimer
- How to Read a Study Record
| Condition or disease |
|---|
| Dystonia Parkinsonism |
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 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 |
| Group/Cohort |
|---|
|
ATP1A3 Mutation
Those with RDP, AHC, unaffected carriers of ATP1A3 mutations, and non-carrying family members
|
- 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.
- 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
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, Learn About Clinical Studies.
| Ages Eligible for Study: | 2 Years and older (Child, Adult, Older Adult) |
| Sexes Eligible for Study: | All |
| Accepts Healthy Volunteers: | No |
| Sampling Method: | Non-Probability Sample |
Inclusion Criteria:
- clinical presentation consistent with ATP1A3 disease (RDP, AHC) or confirmed diagnosis of RDP or AHC
Exclusion Criteria:
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
| 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 |
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 |