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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT00682513
Recruitment Status : Recruiting
First Posted : May 22, 2008
Last Update Posted : May 27, 2022
National Institute of Neurological Disorders and Stroke (NINDS)
Information provided by (Responsible Party):
Allison Brashear, MD, MBA, 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.

Condition or disease
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.

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Study Type : Observational
Estimated 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 : April 2008
Estimated Primary Completion Date : July 31, 2027
Estimated Study Completion Date : July 31, 2027

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

Primary Outcome Measures :
  1. RDP Severity [ Time Frame: Visit 1 (baseline) ]
    History of symptom onset and duration will be obtained and current degree of severity assessed.

Secondary Outcome Measures :
  1. Presence of neuropsychiatric disease [ Time Frame: 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.

Biospecimen Retention:   Samples With DNA
whole blood, tissue (saliva samples)

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   18 Months and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Selection will take place predominantly via primary care clinics, i.e., physician referrals when patients present with a movement disorder suspicious for RDP.

Inclusion Criteria:

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

Exclusion Criteria:

  • none

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT00682513

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Contact: Rebecca Firth, MHA 716-898-6254

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United States, California
University of California, Davis Recruiting
Sacramento, California, United States, 95817
Contact: Eleonora Napoli, PhD   
Principal Investigator: Vicki Wheelock, MD         
United States, Florida
University of Miami Recruiting
Miami, Florida, United States, 33136
Contact: Silvia Vargas, CCRP    305-243-3647   
Principal Investigator: Ihtsham Haq, MD         
United States, New York
University at Buffalo Not yet recruiting
Buffalo, New York, United States, 14203
Contact: Rebecca Firth, MHA    716-898-6254   
Sponsors and Collaborators
State University of New York at Buffalo
National Institute of Neurological Disorders and Stroke (NINDS)
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Principal Investigator: Allison Brashear, MD Dean, University at Buffalo Jacobs School of Medicine and Biomedical Sciences
Additional Information:
Publications automatically indexed to this study by Identifier (NCT Number):
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Responsible Party: Allison Brashear, MD, MBA, Dean, Jacobs School of Medicine and Biomedical Sciences, State University of New York at Buffalo Identifier: NCT00682513    
Other Study ID Numbers: 1688159
BG05-556 ( Other Identifier: Wake Forest University School of Medicine )
1R01NS058949-01A1 ( U.S. NIH Grant/Contract )
IRB00007686 ( Other Identifier: Wake Forest University School of Medicine )
1704511 ( Other Identifier: University of California, Davis IRB )
First Posted: May 22, 2008    Key Record Dates
Last Update Posted: May 27, 2022
Last Verified: May 2022
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Allison Brashear, MD, MBA, State University of New York at Buffalo:
rapid-onset dystonia-parkinsonism
Alternating Hemiplegia of Childhood
Additional relevant MeSH terms:
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Dystonic Disorders
Parkinsonian Disorders
Neurologic Manifestations
Nervous System Diseases
Movement Disorders
Central Nervous System Diseases
Basal Ganglia Diseases
Brain Diseases