Identifying characteristics of rapid-onset dystonia-parkinsonism and related movement disorders
Clinical, Genetic, and Cellular Consequences of Mutations in the NA,K-ATPase ATP1A3
This study is looking for people with rapid-onset dystonia-parkinsonism to learn more about how it affects them and to see if there are any genetic links to the condition.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 198 (estimated) |
| Sex | All |
| Sponsor | State University of New York at Buffalo Academic / other |
| Locations | 2 sites (Miami, Florida and 1 other locations) |
| Trial ID | NCT00682513 on ClinicalTrials.gov |
What this trial studies
This observational study aims to identify individuals with rapid-onset dystonia-parkinsonism (RDP) and document the prevalence and natural history of the condition. It focuses on understanding the variable phenotypic presentations of RDP and exploring potential genetic mutations associated with the disorder. Participants will undergo neurological assessments either in-person or via telemedicine, and blood samples will be collected for genetic analysis. The study builds on previous research to enhance the understanding of RDP and its relationship with other movement disorders.
Who should consider this trial
Good fit: Ideal candidates include individuals with clinical presentations consistent with ATP1A3 disease, specifically those diagnosed with rapid-onset dystonia-parkinsonism or alternating hemiplegia of childhood.
Not a fit: Patients without a clinical presentation consistent with ATP1A3 disease or those not diagnosed with RDP or AHC may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved diagnosis and understanding of rapid-onset dystonia-parkinsonism, potentially guiding better treatment options for affected patients.
How similar studies have performed: While this study builds on previous research, the specific focus on the variable presentations of RDP and its genetic underpinnings is relatively novel and has not been extensively tested in prior studies.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * clinical presentation consistent with ATP1A3 disease (RDP, AHC) or confirmed diagnosis of RDP or AHC Exclusion Criteria: * none
Where this trial is running
Miami, Florida and 1 other locations
- University of Miami — Miami, Florida, United States (Recruiting)
- University at Buffalo — Buffalo, New York, United States (Recruiting)
Study contacts
- Principal investigator: Allison Brashear, MD — Dean, University at Buffalo Jacobs School of Medicine and Biomedical Sciences
- Study coordinator: Rebecca Firth, MHA
- Email: rsfirth@buffalo.edu
- Phone: 716-881-7461
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.