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

Recruiting

• Conditions: Dystonia; Parkinsonism

• Registration Number: NCT00682513
• Lead Sponsor: State University of New York at Buffalo

Brief 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.

Study Timeline

• Study Start: 2008-04
• Study First Submitted: 2008-05-20
• Study First Submitted QC: 2008-05-21
• Study First Posted: 2008-05-22
• Status Verified: 2024-04
• Last Update Submitted: 2025-04-28
• Last Update Posted: 2025-05-01
• Primary Completion: 2027-07-31
• Study Completion: 2027-07-31

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 198

Inclusion Criteria

• clinical presentation consistent with ATP1A3 disease (RDP, AHC) or confirmed diagnosis of RDP or AHC

Exclusion Criteria

• none

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
RDP Severity	Visit 1 (baseline)	History of symptom onset and duration will be obtained and current degree of severity assessed.

Secondary Outcome Measures

Name	Time	Method
Presence of neuropsychiatric disease	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.

Trial Locations

Locations (2)

University of Miami; 🇺🇸 Miami, Florida, United States

University at Buffalo; 🇺🇸 Buffalo, New York, United States