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

Dystonia Clinical Trial

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT00682513
• Other study ID #: 1688159
• Secondary ID: BG05-5561R01NS05
• Status: Recruiting
• Start date: April 2008
• Est. completion date: July 31, 2027

Study information

• Verified date: April 2024
• Source: State University of New York at Buffalo
• Contact: Rebecca Firth, MHA
• Phone: 716-881-7461
• Email: rsfirth[@]buffalo.edu
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 198
• Est. completion date: July 31, 2027
• Est. primary completion date: July 31, 2027
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

Inclusion Criteria:

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

Exclusion Criteria:

• none

Related Conditions & MeSH terms

• Dystonia
• Dystonic Disorders
• Parkinsonian Disorders
• Parkinsonism

Locations

Country	Name	City	State
United States	University at Buffalo	Buffalo	New York
United States	University of Miami	Miami	Florida
United States	University of California, Davis	Sacramento	California

Sponsors (2)

Lead Sponsor	Collaborator
State University of New York at Buffalo	National Institute of Neurological Disorders and Stroke (NINDS)

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	RDP Severity	History of symptom onset and duration will be obtained and current degree of severity assessed.	Visit 1 (baseline)
Secondary	Presence of neuropsychiatric disease	Psychiatric interview and cognitive assessment will be performed to examine presence or absence of symptoms.	Will be assessed at Visits 1 (baseline) and 2 (24 months), approximately 2 years apart

External Links

•   ATP1A3 diseases study website