Studies of the Variable Phenotypic Presentations of Rapid-Onset Dystonia Parkinsonism and Other Movement Disorders
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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 |
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Recruitment Status :
Recruiting
First Posted : May 22, 2008
Last Update Posted : May 27, 2022
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| Condition or disease |
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| 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.
The study involves in-person or remote (telemedicine) neurological assessments and blood samples for genetic analysis.
| Study Type : | Observational |
| Estimated Enrollment : | 198 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 : | July 31, 2027 |
| Estimated Study Completion Date : | July 31, 2027 |
| Group/Cohort |
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ATP1A3 Mutation
Those with RDP, AHC, unaffected carriers of ATP1A3 mutations, and non-carrying family members
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- RDP Severity [ Time Frame: Visit 1 (baseline) ]History of symptom onset and duration will be obtained and current degree of severity assessed.
- Presence of neuropsychiatric disease [ Time Frame: Will be assessed at Visits 1 (baseline) and 2 (24 months), approximately 2 years apart ]Psychiatric interview and cognitive assessment will be performed to examine presence or absence of symptoms.
Biospecimen Retention: Samples With DNA
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| Ages Eligible for Study: | 18 Months 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:
- none
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: Rebecca Firth, MHA | 716-898-6254 | rsfirth@buffalo.edu |
| United States, California | |
| University of California, Davis | Recruiting |
| Sacramento, California, United States, 95817 | |
| Contact: Eleonora Napoli, PhD enapoli@ucdavis.edu | |
| Principal Investigator: Vicki Wheelock, MD | |
| United States, Florida | |
| University of Miami | Recruiting |
| Miami, Florida, United States, 33136 | |
| Contact: Silvia Vargas, CCRP 305-243-3647 s.vargasparra@med.miami.edu | |
| Principal Investigator: Ihtsham Haq, MD | |
| United States, New York | |
| University at Buffalo | Not yet recruiting |
| Buffalo, New York, United States, 14203 | |
| Contact: Rebecca Firth, MHA 716-898-6254 rsfirth@buffalo.edu | |
| Principal Investigator: | Allison Brashear, MD | Dean, University at Buffalo Jacobs School of Medicine and Biomedical Sciences |
Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
| Responsible Party: | Allison Brashear, MD, MBA, Dean, Jacobs School of Medicine and Biomedical Sciences, State University of New York at Buffalo |
| ClinicalTrials.gov Identifier: | NCT00682513 |
| Other Study ID Numbers: |
1688159 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 ) 1704511 ( Other Identifier: University of California, Davis IRB ) |
| First Posted: | May 22, 2008 Key Record Dates |
| Last Update Posted: | May 27, 2022 |
| Last Verified: | May 2022 |
| Individual Participant Data (IPD) Sharing Statement: | |
| Plan to Share IPD: | No |
| Studies a U.S. FDA-regulated Drug Product: | No |
| Studies a U.S. FDA-regulated Device Product: | No |
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dystonia parkinsonism rapid-onset dystonia-parkinsonism |
RDP Alternating Hemiplegia of Childhood AHC |
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Dystonia Dystonic Disorders Parkinsonian Disorders Dyskinesias Neurologic Manifestations |
Nervous System Diseases Movement Disorders Central Nervous System Diseases Basal Ganglia Diseases Brain Diseases |