NCT00682513

Studies of the Variable Phenotypic Presentations of Rapid-Onset Dystonia Parkinsonism and Other Movement Disorders

Clinical, Genetic, and Cellular Consequences of Mutations in the NA,K-ATPase ATP1A3

• Status: Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 198 (estimated)
• Sponsor: State University of New York at Buffalo · Academic / Other
• Sex: All
• Age: —
• Healthy volunteers: Not accepted

Summary

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.

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. The study involves in-person or remote (telemedicine) neurological assessments and blood samples for genetic analysis.

Conditions

• Dystonia
• Parkinsonism

Timeline

• Start date: 2008-04-01
• Primary completion: 2027-07-31
• Completion: 2027-07-31
• First posted: 2008-05-22
• Last updated: 2025-05-01

Locations

2 sites across 1 country: United States