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

Sponsor

State University of New York at Buffalo (Other)

Overall Status

Recruiting

CT.gov ID

NCT00682513

Collaborator

National Institute of Neurological Disorders and Stroke (NINDS) (NIH)

198

Enrollment

Locations

232

Duration (Months)

Patients Per Site

0.3

Patients Per Site Per Month

Study Details

Study Description

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.

Condition or Disease	Intervention/Treatment	Phase
Dystonia Parkinsonism

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 Design

Study Type:

Observational

Anticipated 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 :

Apr 1, 2008

Anticipated Primary Completion Date :

Jul 31, 2027

Anticipated Study Completion Date :

Jul 31, 2027

Arms and Interventions

Arm	Intervention/Treatment
ATP1A3 Mutation Those with RDP, AHC, unaffected carriers of ATP1A3 mutations, and non-carrying family members

Outcome Measures

Primary Outcome Measures

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

Secondary Outcome Measures

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.

Eligibility Criteria

Criteria

Ages Eligible for Study:

18 Months and Older

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

Inclusion Criteria:

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

Exclusion Criteria:

none

Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
1	University of California, Davis	Sacramento	California	United States	95817
2	University of Miami	Miami	Florida	United States	33136
3	University at Buffalo	Buffalo	New York	United States	14203